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    DMD dystrophin [ Homo sapiens (human) ]

    Gene ID: 1756, updated on 11-Jun-2021

    Summary

    Official Symbol
    DMDprovided by HGNC
    Official Full Name
    dystrophinprovided by HGNC
    Primary source
    HGNC:HGNC:2928
    See related
    Ensembl:ENSG00000198947 MIM:300377
    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
    This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in heart (RPKM 7.1), fat (RPKM 4.3) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DMD in Genome Data Viewer
    Location:
    Xp21.2-p21.1
    Exon count:
    89
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (31119219..33339460, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (31137339..33357505, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TAB3 antisense RNA 1 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

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    GeneReviews: Not available
    Becker muscular dystrophy
    MedGen: C0917713 OMIM: 300376 GeneReviews: Dystrophinopathies
    Compare labs
    Dilated cardiomyopathy 3B
    MedGen: C3668940 OMIM: 302045 GeneReviews: Dystrophinopathies
    Compare labs
    Duchenne muscular dystrophy Compare labs
    Dystrophinopathies
    MedGen: CN043595 GeneReviews: Dystrophinopathies
    Compare labs
    Genome-wide association study of co-occurring anxiety in major depression.
    GeneReviews: Not available
    Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-11-20)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-11-20)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    dystrophin
    Names
    truncated dystrophin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000109.4NP_000100.3  dystrophin isoform Dp427c

      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)
      AC004468, AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL031542, AL050305, AL096699, AL109609, AL139278, AL451144
      Conserved Domains (8) summary
      TIGR01612
      Location:7551930
      235kDa-fam; reticulocyte binding/rhoptry protein
      COG5069
      Location:2224
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      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 ...
      cd16246
      Location:31173278
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:29263031
      Spectrin; Spectrin repeat
      cl02488
      Location:23132571
      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_004006.3NP_003997.2  dystrophin isoform Dp427m

      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)
      AC079177, AC079864, AL031542, AL031643, AL109609, BC028720, M18533
      Consensus CDS
      CCDS14233.1
      Related
      ENSP00000354923.3, ENST00000357033.9
      Conserved Domains (9) summary
      TIGR01612
      Location:7631938
      235kDa-fam; reticulocyte binding/rhoptry protein
      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 ...
      cd16246
      Location:31253286
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:29343040
      Spectrin; Spectrin repeat
      cd21231
      Location:11121
      CH_DMD_rpt1; first calponin homology (CH) domain found in dystrophin and similar proteins
      cd21233
      Location:136246
      CH_DMD_rpt2; second calponin homology (CH) domain found in dystrophin and similar proteins
      cl02488
      Location:23212579
      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 isoform Dp427p1

      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
      ENSP00000367948.2, ENST00000378677.6
      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 isoform Dp427p2

      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_004011.4NP_004002.3  dystrophin isoform Dp260-1

      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)
      AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL109609, AL139278
      Conserved Domains (7) summary
      TIGR01612
      Location:32597
      235kDa-fam; reticulocyte binding/rhoptry protein
      COG1196
      Location:3541228
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:17841945
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:15931698
      Spectrin; Spectrin repeat
    6. NM_004012.4NP_004003.2  dystrophin isoform Dp260-2

      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)
      AC006061, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193, AC096506, AL109609, AL139278
      Related
      ENSP00000479270.2, ENST00000619831.5
      Conserved Domains (7) summary
      TIGR01612
      Location:29594
      235kDa-fam; reticulocyte binding/rhoptry protein
      COG1196
      Location:3511225
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:17811942
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:15901695
      Spectrin; Spectrin repeat
    7. NM_004013.3NP_004004.2  dystrophin isoform Dp140

      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)
      AC006061, AC078957, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
      Consensus CDS
      CCDS48091.1
      Related
      ENSP00000367979.3, ENST00000378707.7
      Conserved Domains (6) summary
      COG1196
      Location:9751145
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:665826
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
    8. NM_004014.3NP_004005.2  dystrophin isoform Dp116

      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)
      AC006061, AC078958, AC079143, AC079175, AC079177, AC090632
      Consensus CDS
      CCDS75965.1
      Related
      ENSP00000340057.4, ENST00000343523.7
      Conserved Domains (6) summary
      COG1196
      Location:706876
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:396557
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:205311
      Spectrin; Spectrin repeat
    9. NM_004015.3NP_004006.1  dystrophin isoform Dp71

      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)
      AC006061, AC078958, BC028720, BC070078, BC094758
      Consensus CDS
      CCDS14234.1
      UniProtKB/Swiss-Prot
      P11532
      UniProtKB/TrEMBL
      A0A0S2Z3B5
      Related
      ENSP00000367974.4, ENST00000378702.8
      Conserved Domains (3) summary
      COG1196
      Location:367537
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
    10. NM_004016.3NP_004007.1  dystrophin isoform Dp71b

      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)
      AC006061, AC078958, BC028720, BC094758
      Consensus CDS
      CCDS14231.1
      UniProtKB/Swiss-Prot
      P11532
      UniProtKB/TrEMBL
      A0A0S2Z3J7
      Related
      ENSP00000367997.3, ENST00000378723.7
      Conserved Domains (3) summary
      COG1196
      Location:367537
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
    11. NM_004017.3NP_004008.1  dystrophin isoform Dp71a

      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)
      AC006061, AC078958, BC028720, BC070078, M92650
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000507640.1, ENST00000682600.1
      Conserved Domains (3) summary
      COG1196
      Location:354524
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
    12. NM_004018.3NP_004009.1  dystrophin isoform Dp71ab

      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)
      AC006061, AC078958, BC028720, DB233002, M92650
      Consensus CDS
      CCDS14232.1
      UniProtKB/Swiss-Prot
      P11532
      Related
      ENSP00000354464.4, ENST00000361471.8
      Conserved Domains (3) summary
      COG1196
      Location:354524
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
    13. NM_004019.3NP_004010.1  dystrophin isoform Dp40

      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
      Related
      ENST00000681654.1
      Conserved Domains (2) 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 ...
      cd16246
      Location:57218
      EFh_DMD; EF-hand-like motif found in dystrophin
    14. NM_004020.4NP_004011.3  dystrophin isoform Dp140c

      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)
      AC006061, AC078957, AC078958, AC079143, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
      Consensus CDS
      CCDS55394.1
      Related
      ENSP00000444119.1, ENST00000541735.5
      Conserved Domains (5) 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 ...
      cd16246
      Location:665826
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
    15. NM_004021.3NP_004012.2  dystrophin isoform Dp140b

      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)
      AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
      Related
      ENSP00000417123.1, ENST00000474231.5
      Conserved Domains (5) summary
      COG1196
      Location:9751145
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:665826
      EFh_DMD; EF-hand-like motif found in dystrophin
    16. NM_004022.3NP_004013.2  dystrophin isoform D140ab

      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)
      AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
      Related
      ENSP00000352894.1, ENST00000359836.5
      Conserved Domains (6) summary
      COG1196
      Location:9621132
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      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 ...
      cd16246
      Location:665826
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam00435
      Location:474580
      Spectrin; Spectrin repeat
    17. NM_004023.3NP_004014.2  dystrophin isoform Dp140bc

      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)
      AC006061, AC078957, AC078958, AC079175, AC079177, AC079864, AC090632, AC093167, AC093193
      Related
      ENSP00000508124.1, ENST00000682238.1
      Conserved Domains (4) 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 ...
      cd16246
      Location:665826
      EFh_DMD; EF-hand-like motif found in dystrophin

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      31119219..33339460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724469.3XP_006724532.1  dystrophin isoform X2

      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  dystrophin isoform X5

      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  dystrophin isoform X6

      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  dystrophin isoform X8

      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  dystrophin isoform X4

    6. XM_006724468.2XP_006724531.1  dystrophin isoform X1

      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  dystrophin isoform X13

    8. XM_006724470.3XP_006724533.1  dystrophin isoform X3

      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  dystrophin isoform X7

      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  dystrophin isoform X9

      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_017029330.2XP_016884819.1  dystrophin isoform X11

    12. XM_017029329.1XP_016884818.1  dystrophin isoform X10

    13. XM_011545469.1XP_011543771.1  dystrophin isoform X12

      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; ...

    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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