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DMD dystrophin [ Homo sapiens (human) ]

Gene ID: 1756, updated on 26-Nov-2016
Official Symbol
DMDprovided by HGNC
Official Full Name
dystrophinprovided by HGNC
Primary source
HGNC:HGNC:2928
See related
Ensembl:ENSG00000198947 HPRD:02303; MIM:300377; Vega:OTTHUMG00000021336
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
Summary
The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
Orthologs
Location:
Xp21.2-p21.1
Exon count:
89
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (31119219..33339609, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (31137345..33357726, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TGF-beta activated kinase 1/MAP3K7 binding protein 3 Neighboring gene ferritin heavy chain like 17 Neighboring gene RNA, U6 small nuclear 894, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 501 Neighboring gene nucleophosmin 1 pseudogene 8 Neighboring gene microRNA 3915 Neighboring gene microRNA 548f-5 Neighboring gene tubulin folding cofactor A pseudogene 1 Neighboring gene lysosomal associated membrane protein 1 pseudogene Neighboring gene uncharacterized LOC105373153

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-10-04)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-10-04)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genome-wide association study of co-occurring anxiety in major depression.
NHGRI GWA Catalog
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
NHGRI GWA Catalog
  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Non-integrin membrane-ECM interactions, organism-specific biosystem (from REACTOME)
    Non-integrin membrane-ECM interactions, organism-specific biosystemSeveral non-integrin membrane proteins interact with extracellular matrix proteins. Transmembrane proteoglycans may associate with integrins and growth factor receptors to influence their function, o...
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Viral myocarditis, organism-specific biosystem (from KEGG)
    Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
actin binding TAS
Traceable Author Statement
more info
PubMed 
dystroglycan binding IPI
Inferred from Physical Interaction
more info
PubMed 
myosin binding IDA
Inferred from Direct Assay
more info
PubMed 
nitric-oxide synthase binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
structural constituent of muscle IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of muscle TAS
Traceable Author Statement
more info
PubMed 
vinculin binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac muscle cell action potential ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular protein complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cellular protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
muscle attachment IEA
Inferred from Electronic Annotation
more info
 
muscle cell cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
muscle filament sliding TAS
Traceable Author Statement
more info
 
muscle organ development NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of peptidyl-cysteine S-nitrosylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of sodium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of skeletal muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
response to muscle stretch ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cell-substrate junction ISS
Inferred from Sequence or Structural Similarity
more info
 
costamere IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
dystrophin-associated glycoprotein complex NAS
Non-traceable Author Statement
more info
PubMed 
dystrophin-associated glycoprotein complex TAS
Traceable Author Statement
more info
PubMed 
filopodium IDA
Inferred from Direct Assay
more info
PubMed 
filopodium membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with lateral plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
syntrophin complex TAS
Traceable Author Statement
more info
PubMed 

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012232.1 RefSeqGene

    Range
    5001..2225382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_199

mRNA and Protein(s)

  1. NM_000109.3NP_000100.2  dystrophin Dp427c isoform

    See identical proteins and their annotated locations for NP_000100.2

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427c is expressed predominantly in neurons of the cortex and the CA regions of the hippocampus. It uses a unique promoter/exon 1 located about 130 kb upstream of the Dp427m transcript promoter. The transcript includes the common exon 2 of transcript Dp427m and has a similar length of 14 kb. The Dp427c isoform contains a unique N-terminal MED sequence, instead of the MLWWEEVEDCY sequence of isoform Dp427m. The remainder of isoform Dp427c is identical to isoform Dp427m.
    Source sequence(s)
    AL050305, AL109609, BC028720, BC036103, M18533
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    Q4G0X0
    Conserved Domains (11) summary
    COG1340
    Location:16961966
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:127232
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:333550
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30513080
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33033351
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29263032
    Spectrin; Spectrin repeat
    pfam01442
    Location:28863032
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30813199
    EF-hand_2; EF hand
    pfam09069
    Location:32033294
    EF-hand_3; EF-hand
    pfam16769
    Location:34803663
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14591668
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. NM_004006.2NP_003997.1  dystrophin Dp427m isoform

    See identical proteins and their annotated locations for NP_003997.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427m encodes the main dystrophin protein found in muscle. As a result of alternative promoter use, exon 1 encodes a unique N-terminal MLWWEEVEDCY aa sequence.
    Source sequence(s)
    AL031643, AL109609, BC028720, M18533
    Consensus CDS
    CCDS14233.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000354923, OTTHUMP00000023117, ENST00000357033, OTTHUMT00000056182
    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34883671
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  3. NM_004009.3NP_004000.1  dystrophin Dp427p1 isoform

    See identical proteins and their annotated locations for NP_004000.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427p1 initiates from a unique promoter/exon 1 located in what corresponds to the first intron of transcript Dp427m. The transcript adds the common exon 2 of Dp427m and has a similar length (14 kb). The Dp427p1 isoform replaces the MLWWEEVEDCY-start of Dp427m with a unique N-terminal MSEVSSD aa sequence.
    Source sequence(s)
    AL049643, AL109609, BC028720, M18533, S64152
    Consensus CDS
    CCDS55395.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000367948, OTTHUMP00000023121, ENST00000378677, OTTHUMT00000056187
    Conserved Domains (11) summary
    COG1340
    Location:17001970
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:131236
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:337554
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30553084
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33073355
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29303036
    Spectrin; Spectrin repeat
    pfam01442
    Location:28903036
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30853203
    EF-hand_2; EF hand
    pfam09069
    Location:32073298
    EF-hand_3; EF-hand
    pfam16769
    Location:34843667
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14631672
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  4. NM_004010.3NP_004001.1  dystrophin Dp427p2 isoform

    See identical proteins and their annotated locations for NP_004001.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp427p2 has an additional 82 nt directly after exon 1 which introduces a translational stop codon 24 bp downstream of the same ATG codon included in the Dp427p1 transcript. This transcript has unknown coding capacity.
    Source sequence(s)
    AL049643, AL109609, BC028720, M18533, S64152
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (11) summary
    COG1340
    Location:15811851
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:12117
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:218435
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:29362965
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:31883236
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:28112917
    Spectrin; Spectrin repeat
    pfam01442
    Location:27712917
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:29663084
    EF-hand_2; EF hand
    pfam09069
    Location:30883179
    EF-hand_3; EF-hand
    pfam16769
    Location:33653548
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:13441553
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  5. NM_004011.3NP_004002.2  dystrophin Dp260-1 isoform

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp260-1 uses exons 30-79, and originates from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene. As a result, Dp260-1 contains a 95 bp exon 1 encoding a unique N-terminal 16 aa MTEIILLIFFPAYFLN-sequence that replaces amino acids 1-1357 of the full-length dystrophin product (Dp427m isoform).
    Source sequence(s)
    AL109609, BC028720, M18533
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (10) summary
    COG1340
    Location:363633
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00176
    Location:764979
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:17181747
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:19702018
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:15931699
    Spectrin; Spectrin repeat
    pfam01442
    Location:15531699
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:17481866
    EF-hand_2; EF hand
    pfam09069
    Location:18701961
    EF-hand_3; EF-hand
    pfam16769
    Location:21472330
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:126335
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  6. NM_004012.3NP_004003.1  dystrophin Dp260-2 isoform

    See identical proteins and their annotated locations for NP_004003.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence.
    Source sequence(s)
    AL109609, BC028720, M18533
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (10) summary
    COG1340
    Location:360630
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00176
    Location:761976
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:17151744
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:19672015
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:15901696
    Spectrin; Spectrin repeat
    pfam01442
    Location:15501696
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:17451863
    EF-hand_2; EF hand
    pfam09069
    Location:18671958
    EF-hand_3; EF-hand
    pfam16769
    Location:21442327
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:123332
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  7. NM_004013.2NP_004004.1  dystrophin Dp140 isoform

    See identical proteins and their annotated locations for NP_004004.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140) contains all of the exons.
    Source sequence(s)
    BC028720, DA804849, M18533
    Consensus CDS
    CCDS48091.1
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    A1L0U9
    Related
    ENSP00000367979, ENST00000378707
    Conserved Domains (7) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
    pfam09068
    Location:629747
    EF-hand_2; EF hand
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam16769
    Location:10281211
    MCM3AP_GANP; MCM3AP domain of GANP
  8. NM_004014.2NP_004005.1  dystrophin Dp116 isoform

    See identical proteins and their annotated locations for NP_004005.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp116 uses exons 56-79, starting from a promoter/exon 1 within intron 55. As a result, the Dp116 isoform contains a unique N-terminal MLHRKTYHVK aa sequence, instead of aa 1-2739 of dystrophin. Differential splicing produces several Dp116-subtypes. The Dp116 isoform is also known as S-dystrophin or apo-dystrophin-2. This variant was curated in collaboration with Johann den Dunnen.
    Source sequence(s)
    AC079175, BC028720, M18533
    Consensus CDS
    CCDS75965.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000340057, ENST00000343523
    Conserved Domains (8) summary
    cd00176
    Location:10204
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:330359
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:582630
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:205311
    Spectrin; Spectrin repeat
    pfam01442
    Location:165311
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:360478
    EF-hand_2; EF hand
    pfam09069
    Location:482573
    EF-hand_3; EF-hand
    pfam16769
    Location:759942
    MCM3AP_GANP; MCM3AP domain of GANP
  9. NM_004015.2NP_004006.1  dystrophin Dp71 isoform

    See identical proteins and their annotated locations for NP_004006.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71) includes both exons 71 and 78.
    Source sequence(s)
    BC028720, BC070078, BC094758
    Consensus CDS
    CCDS14234.1
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    A0A0S2Z3B5
    Related
    ENSP00000367974, OTTHUMP00000023126, ENST00000378702, OTTHUMT00000056196
    Conserved Domains (4) summary
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam09068
    Location:21139
    EF-hand_2; EF hand
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    pfam16769
    Location:420603
    MCM3AP_GANP; MCM3AP domain of GANP
  10. NM_004016.2NP_004007.1  dystrophin Dp71b isoform

    See identical proteins and their annotated locations for NP_004007.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71b) lacks exon 78 and encodes a protein with a different C-terminus than Dp71 and Dp71a isoforms.
    Source sequence(s)
    BC028720, BC094758
    Consensus CDS
    CCDS14231.1
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    A0A0S2Z3J7
    Related
    ENSP00000367997, OTTHUMP00000023124, ENST00000378723, OTTHUMT00000056194
    Conserved Domains (4) summary
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam09068
    Location:21139
    EF-hand_2; EF hand
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    pfam16769
    Location:420613
    MCM3AP_GANP; MCM3AP domain of GANP
  11. NM_004017.2NP_004008.1  dystrophin Dp71a isoform

    See identical proteins and their annotated locations for NP_004008.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71a) lacks exon 71.
    Source sequence(s)
    BC028720, BC070078, M92650
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (4) summary
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam09068
    Location:21139
    EF-hand_2; EF hand
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    pfam16769
    Location:407590
    MCM3AP_GANP; MCM3AP domain of GANP
  12. NM_004018.2NP_004009.1  dystrophin Dp71ab isoform

    See identical proteins and their annotated locations for NP_004009.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp71 transcripts use exons 63-79 with a novel 80- to 100-nt exon containing an ATG start site for a new coding sequence of 17 nt. The short coding sequence is in-frame with the consecutive dystrophin sequence from exon 63. Differential splicing of exons 71 and 78 produces at least four Dp71 isoforms. Of these, this transcript (Dp71ab) lacks both exons 71 and 78 and encodes a protein with a C-terminus like isoform Dp71b.
    Source sequence(s)
    BC028720, DB233002, M92650
    Consensus CDS
    CCDS14232.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000354464, OTTHUMP00000023125, ENST00000361471, OTTHUMT00000056195
    Conserved Domains (4) summary
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam09068
    Location:21139
    EF-hand_2; EF hand
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
    pfam16769
    Location:407600
    MCM3AP_GANP; MCM3AP domain of GANP
  13. NM_004019.2NP_004010.1  dystrophin Dp40 isoform

    See identical proteins and their annotated locations for NP_004010.1

    Status: REVIEWED

    Description
    Transcript Variant: transcript Dp40 uses exons 63-70. The 5' UTR and encoded first 7 aa are identical to that in transcript Dp71, but the stop codon lies at the splice junction of the exon/intron 70. The 3' UTR includes nt from intron 70 which includes an alternative polyadenylation site. The Dp40 isoform lacks the normal C-terminal end of full-length dystrophin (aa 3409-3685).
    Source sequence(s)
    AC078958, M18533, S42206
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    Q16484
    Conserved Domains (3) summary
    cd02334
    Location:243291
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam09068
    Location:21139
    EF-hand_2; EF hand
    pfam09069
    Location:143234
    EF-hand_3; EF-hand
  14. NM_004020.3NP_004011.2  dystrophin Dp140c isoform

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140c) lacks exons 71-74.
    Source sequence(s)
    AC078958, BC028720, DA804849, M18533
    Consensus CDS
    CCDS55394.1
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000444119, ENST00000541735
    Conserved Domains (7) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
    pfam09068
    Location:629747
    EF-hand_2; EF hand
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam16769
    Location:9661101
    MCM3AP_GANP; MCM3AP domain of GANP
  15. NM_004021.2NP_004012.1  dystrophin Dp140b isoform

    See identical proteins and their annotated locations for NP_004012.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140b) lacks exon 78 and encodes a protein with a unique C-terminus.
    Source sequence(s)
    BC028720, DA804849, M18533
    UniProtKB/Swiss-Prot
    P11532
    UniProtKB/TrEMBL
    A7E212
    Related
    ENSP00000417123, OTTHUMP00000215846, ENST00000474231, OTTHUMT00000356267
    Conserved Domains (7) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
    pfam09068
    Location:629747
    EF-hand_2; EF hand
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam16769
    Location:10281221
    MCM3AP_GANP; MCM3AP domain of GANP
  16. NM_004022.2NP_004013.1  dystrophin Dp140ab isoform

    See identical proteins and their annotated locations for NP_004013.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140ab) lacks exons 71 and 78 and encodes a protein with a unique C-terminus.
    Source sequence(s)
    BC028720, DA804849, M18533, M92650
    UniProtKB/Swiss-Prot
    P11532
    Related
    ENSP00000352894, ENST00000359836
    Conserved Domains (7) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
    pfam09068
    Location:629747
    EF-hand_2; EF hand
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam16769
    Location:10151208
    MCM3AP_GANP; MCM3AP domain of GANP
  17. NM_004023.2NP_004014.1  dystrophin Dp140bc isoform

    See identical proteins and their annotated locations for NP_004014.1

    Status: REVIEWED

    Description
    Transcript Variant: Dp140 transcripts use exons 45-79, starting at a promoter/exon 1 located in intron 44. Dp140 transcripts have a long (1 kb) 5' UTR since translation is initiated in exon 51 (corresponding to aa 2461 of dystrophin). In addition to the alternative promoter and exon 1, differential splicing of exons 71-74 and 78 produces at least five Dp140 isoforms. Of these, this transcript (Dp140bc) lacks exons 71-74 and 78 and encodes a protein with a unique C-terminus.
    Source sequence(s)
    BC028720, DA804849, M18533, M92650
    UniProtKB/Swiss-Prot
    P11532
    Conserved Domains (7) summary
    cd00176
    Location:230473
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:599628
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:851899
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:474580
    Spectrin; Spectrin repeat
    pfam09068
    Location:629747
    EF-hand_2; EF hand
    pfam09069
    Location:751842
    EF-hand_3; EF-hand
    pfam16769
    Location:9661111
    MCM3AP_GANP; MCM3AP domain of GANP

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

    Range
    31119219..33339609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724469.3XP_006724532.1  

    Conserved Domains (11) summary
    COG1340
    Location:16961966
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:127232
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:333550
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30513080
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33033351
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29263032
    Spectrin; Spectrin repeat
    pfam01442
    Location:28863032
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30813199
    EF-hand_2; EF hand
    pfam09069
    Location:32033294
    EF-hand_3; EF-hand
    pfam16769
    Location:34803673
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14591668
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  2. XM_011545467.1XP_011543769.1  

    Conserved Domains (11) summary
    COG1340
    Location:16721933
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30183047
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:32703318
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:28932999
    Spectrin; Spectrin repeat
    pfam01442
    Location:28532999
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30483166
    EF-hand_2; EF hand
    pfam09069
    Location:31703261
    EF-hand_3; EF-hand
    pfam16769
    Location:34473640
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  3. XM_006724473.2XP_006724536.1  

    Conserved Domains (10) summary
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30133042
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:32653313
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:28882994
    Spectrin; Spectrin repeat
    pfam01442
    Location:28482994
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30433161
    EF-hand_2; EF hand
    pfam09069
    Location:31653256
    EF-hand_3; EF-hand
    pfam16769
    Location:34423635
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  4. XM_006724475.2XP_006724538.1  

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34263561
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  5. XM_017029328.1XP_016884817.1  

  6. XM_006724468.2XP_006724531.1  

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34883681
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  7. XM_017029331.1XP_016884820.1  

  8. XM_006724470.3XP_006724533.1  

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34753668
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  9. XM_006724474.3XP_006724537.1  

    Conserved Domains (11) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    cd02334
    Location:33113359
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113302
    EF-hand_3; EF-hand
    pfam16769
    Location:34263571
    MCM3AP_GANP; MCM3AP domain of GANP
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  10. XM_011545468.2XP_011543770.1  

    Conserved Domains (9) summary
    COG1340
    Location:17041974
    COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cd00201
    Location:30593088
    WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    pfam00435
    Location:29343040
    Spectrin; Spectrin repeat
    pfam01442
    Location:28943040
    Apolipoprotein; Apolipoprotein A1/A4/E domain
    pfam09068
    Location:30893207
    EF-hand_2; EF hand
    pfam09069
    Location:32113272
    EF-hand_3; EF-hand
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
  11. XM_017029330.1XP_016884819.1  

  12. XM_017029329.1XP_016884818.1  

  13. XM_011545469.1XP_011543771.1  

    Conserved Domains (4) summary
    cd00014
    Location:135240
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:341558
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00435
    Location:16791776
    Spectrin; Spectrin repeat
    cl02488
    Location:14671676
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    31168731..33388091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_004007.2: Suppressed sequence

    Description
    NM_004007.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to have been derived from a disease-associated deletion mutation.
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