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DST dystonin [ Homo sapiens (human) ]

Gene ID: 667, updated on 2-Oct-2018

Summary

Official Symbol
DSTprovided by HGNC
Official Full Name
dystoninprovided by HGNC
Primary source
HGNC:HGNC:1090
See related
Ensembl:ENSG00000151914 MIM:113810; Vega:OTTHUMG00000014913
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
DT; BPA; DMH; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101
Summary
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in skin (RPKM 22.2), brain (RPKM 12.5) and 23 other tissues See more
Orthologs

Genomic context

See DST in Genome Data Viewer
Location:
6p12.1
Exon count:
112
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (56457987..56954671, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (56322785..56819426, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene collagen type XXI alpha 1 chain Neighboring gene dihydrofolate reductase pseudogene 6 Neighboring gene regulator of chromosome condensation 2 pseudogene 7 Neighboring gene uncharacterized LOC101930010 Neighboring gene ribosomal protein L17 pseudogene 26 Neighboring gene RNA, U6 small nuclear 626, pseudogene Neighboring gene BEN domain containing 6 Neighboring gene oligosaccharyltransferase complex subunit pseudogene 6 Neighboring gene ferritin heavy chain 1 pseudogene 15

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epidermolysis bullosa simplex, autosomal recessive 2
MedGen: C3809470 OMIM: 615425 GeneReviews: Not available
Compare labs
Neuropathy, hereditary sensory and autonomic, type VI
MedGen: C3539003 OMIM: 614653 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from BioSystems

  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • 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...
  • Type I hemidesmosome assembly, organism-specific biosystem (from REACTOME)
    Type I hemidesmosome assembly, organism-specific biosystemHemidesmosomes (HDs) are specialized multiprotein junctional complexes that connect the keratin cytoskeleton of epithelial cells to the extracellular matrix and play a critical role in the maintenan...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46791, KIAA0465, KIAA1470, DKFZp564B2416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
integrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule plus-end binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
hemidesmosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intermediate filament cytoskeleton organization IEP
Inferred from Expression Pattern
more info
PubMed 
intermediate filament cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
intermediate filament cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
maintenance of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to wounding IDA
Inferred from Direct Assay
more info
PubMed 
retrograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
wound healing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
H zone IEA
Inferred from Electronic Annotation
more info
 
Z disc IEA
Inferred from Electronic Annotation
more info
 
axon cytoplasm IEA
Inferred from Electronic Annotation
more info
 
basal plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
basement membrane TAS
Traceable Author Statement
more info
PubMed 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemidesmosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemidesmosome TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with intermediate filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
microtubule plus-end IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
dystonin
Names
bullous pemphigoid antigen 1
dystonia musculorum protein
hemidesmosomal plaque protein
trabeculin-beta

NCBI Reference Sequences (RefSeq)

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_029322.2 RefSeqGene

    Range
    316733..501642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144769.2NP_001138241.1  dystonin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AB018271, AF400226, AK055189, AK295864, AK299898, AL512448, BC065536, CD367397, DN994324
    UniProtKB/Swiss-Prot
    Q03001
    UniProtKB/TrEMBL
    B4DSS9, Q6P0N6
    Conserved Domains (8) summary
    smart00150
    Location:786877
    SPEC; Spectrin repeats
    COG0419
    Location:12231828
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:214316
    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 ...
    cd00051
    Location:52935355
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:44714686
    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; ...
    pfam02187
    Location:53715444
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:52945354
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:30483259
    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_001144770.1NP_001138242.1  dystonin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AB018271, AF400226, AK055189, AK294830, AK299898, BC065536, BP348892, CD367397
    Consensus CDS
    CCDS75474.1
    UniProtKB/Swiss-Prot
    Q03001
    UniProtKB/TrEMBL
    B4DGY0, B4DSS9, F6QMI7, Q6P0N6
    Related
    ENSP00000307959.7, ENST00000312431.10
    Conserved Domains (8) summary
    smart00150
    Location:648739
    SPEC; Spectrin repeats
    COG0419
    Location:10851690
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:76178
    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 ...
    cd00051
    Location:51555217
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:43334548
    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; ...
    pfam02187
    Location:52335306
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:51565216
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:29103121
    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_001723.5NP_001714.1  dystonin isoform 1e precursor

    See identical proteins and their annotated locations for NP_001714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1e) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. This variant also differs in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (1e) has shorter and distinct N- and C-termini compared to isoform 2.
    Source sequence(s)
    BU685436, DA462108, L11690
    Consensus CDS
    CCDS4959.1
    UniProtKB/Swiss-Prot
    Q03001
    Related
    ENSP00000359801.6, OTTHUMP00000016657, ENST00000370765.10, OTTHUMT00000041027
    Conserved Domains (8) summary
    pfam05483
    Location:7111373
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:282373
    SPEC; Spectrin repeats
    smart00250
    Location:25152552
    PLEC; Plectin repeat
    cd00176
    Location:375557
    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; ...
    pfam00681
    Location:24782517
    Plectin; Plectin repeat
    pfam03528
    Location:15721888
    Rabaptin; Rabaptin
    pfam09728
    Location:14301722
    Taxilin; Myosin-like coiled-coil protein
    cl02488
    Location:8681032
    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_015548.4NP_056363.2  dystonin isoform 1eA precursor

    See identical proteins and their annotated locations for NP_056363.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1eA) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (1eA) has a shorter and distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AF400226, AK055189, AL137008, AL512448, CD367397, DA462108, L11690
    Consensus CDS
    CCDS47443.1
    UniProtKB/Swiss-Prot
    Q03001
    Related
    ENSP00000244364.6, OTTHUMP00000016655, ENST00000244364.10, OTTHUMT00000041022
    Conserved Domains (7) summary
    smart00150
    Location:282373
    SPEC; Spectrin repeats
    COG0419
    Location:7191324
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00051
    Location:47894851
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:39674182
    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; ...
    pfam02187
    Location:48674940
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:47904850
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:25442755
    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_183380.3NP_899236.1  dystonin isoform 1

    See identical proteins and their annotated locations for NP_899236.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (1) has a shorter and distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AB018271, AF400226, AK055189, AK295864, AL512448, BC065536, CD367397, U31850
    UniProtKB/Swiss-Prot
    Q03001
    UniProtKB/TrEMBL
    E9PHM6, Q6P0N6
    Related
    ENSP00000400883.3, ENST00000421834.6
    Conserved Domains (8) summary
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    COG0419
    Location:10451650
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:36138
    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 ...
    cd00051
    Location:51155177
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:42934508
    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; ...
    pfam02187
    Location:51935266
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:51165176
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:28703081
    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; ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    56457987..56954671 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011215.2XP_016866704.1  dystonin isoform X15

  2. XM_017011209.1XP_016866698.1  dystonin isoform X6

  3. XM_017011206.1XP_016866695.1  dystonin isoform X2

  4. XM_017011208.1XP_016866697.1  dystonin isoform X5

  5. XM_017011210.1XP_016866699.1  dystonin isoform X8

  6. XM_017011205.1XP_016866694.1  dystonin isoform X1

  7. XM_011514826.3XP_011513128.1  dystonin isoform X34

    UniProtKB/TrEMBL
    F8W9J4
    Related
    ENSP00000354508.3, OTTHUMP00000016654, ENST00000361203.7
    Conserved Domains (10) summary
    pfam05483
    Location:32343899
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    smart00250
    Location:15521583
    PLEC; Plectin repeat
    cd00014
    Location:36138
    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 ...
    cd00051
    Location:70927154
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:62706485
    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; ...
    pfam00681
    Location:17741814
    Plectin; Plectin repeat
    pfam02187
    Location:71707243
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:70937153
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:41634370
    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; ...
  8. XM_017011224.2XP_016866713.1  dystonin isoform X32

    UniProtKB/Swiss-Prot
    Q03001
    Related
    ENSP00000359824.2, OTTHUMP00000016653, ENST00000370788.6
  9. XM_017011220.1XP_016866709.1  dystonin isoform X27

  10. XM_005249315.3XP_005249372.1  dystonin isoform X9

    Conserved Domains (10) summary
    pfam05483
    Location:34124077
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:786877
    SPEC; Spectrin repeats
    smart00250
    Location:17301761
    PLEC; Plectin repeat
    cd00014
    Location:214316
    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 ...
    cd00051
    Location:73797441
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:65576772
    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; ...
    pfam00681
    Location:19521992
    Plectin; Plectin repeat
    pfam02187
    Location:74577530
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:73807440
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:43414548
    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_005249310.4XP_005249367.1  dystonin isoform X3

    Conserved Domains (10) summary
    pfam05483
    Location:34454110
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:819910
    SPEC; Spectrin repeats
    smart00250
    Location:17631794
    PLEC; Plectin repeat
    cd00014
    Location:363466
    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 ...
    cd00051
    Location:74127474
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:65906805
    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; ...
    pfam00681
    Location:19852025
    Plectin; Plectin repeat
    pfam02187
    Location:74907563
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:74137473
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:43744581
    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; ...
  12. XM_011514824.2XP_011513126.1  dystonin isoform X7

    Conserved Domains (10) summary
    pfam05483
    Location:34214086
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:795886
    SPEC; Spectrin repeats
    smart00250
    Location:17391770
    PLEC; Plectin repeat
    cd00014
    Location:223325
    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 ...
    cd00051
    Location:73887450
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:65666781
    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; ...
    pfam00681
    Location:19612001
    Plectin; Plectin repeat
    pfam02187
    Location:74667539
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:73897449
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:43504557
    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; ...
  13. XM_017011207.1XP_016866696.1  dystonin isoform X4

  14. XM_017011212.1XP_016866701.1  dystonin isoform X11

  15. XM_017011213.1XP_016866702.1  dystonin isoform X13

  16. XM_017011221.1XP_016866710.1  dystonin isoform X29

  17. XM_017011223.1XP_016866712.1  dystonin isoform X31

  18. XM_017011219.1XP_016866708.1  dystonin isoform X26

  19. XM_005249319.2XP_005249376.1  dystonin isoform X18

    Conserved Domains (10) summary
    pfam05483
    Location:32743939
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:648739
    SPEC; Spectrin repeats
    smart00250
    Location:15921623
    PLEC; Plectin repeat
    cd00014
    Location:76178
    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 ...
    cd00051
    Location:72417303
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:64196634
    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; ...
    pfam00681
    Location:18141854
    Plectin; Plectin repeat
    pfam02187
    Location:73197392
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:72427302
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:42034410
    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; ...
  20. XM_005249318.2XP_005249375.1  dystonin isoform X16

    Conserved Domains (10) summary
    pfam05483
    Location:33073972
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:681772
    SPEC; Spectrin repeats
    smart00250
    Location:16251656
    PLEC; Plectin repeat
    cd00014
    Location:225328
    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 ...
    cd00051
    Location:72747336
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:64526667
    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; ...
    pfam00681
    Location:18471887
    Plectin; Plectin repeat
    pfam02187
    Location:73527425
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:72757335
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:42364443
    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; ...
  21. XM_005249323.4XP_005249380.1  dystonin isoform X22

    Conserved Domains (10) summary
    pfam05483
    Location:32343899
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:608699
    SPEC; Spectrin repeats
    smart00250
    Location:15521583
    PLEC; Plectin repeat
    cd00014
    Location:36138
    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 ...
    cd00051
    Location:72017263
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:63796594
    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; ...
    pfam00681
    Location:17741814
    Plectin; Plectin repeat
    pfam02187
    Location:72797352
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:72027262
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:41634370
    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; ...
  22. XM_017011217.1XP_016866706.1  dystonin isoform X21

  23. XM_005249320.4XP_005249377.1  dystonin isoform X19

    Conserved Domains (10) summary
    pfam05483
    Location:32673932
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:641732
    SPEC; Spectrin repeats
    smart00250
    Location:15851616
    PLEC; Plectin repeat
    cd00014
    Location:185288
    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 ...
    cd00051
    Location:72347296
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:64126627
    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; ...
    pfam00681
    Location:18071847
    Plectin; Plectin repeat
    pfam02187
    Location:73127385
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:72357295
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:41964403
    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; ...
  24. XM_005249322.5XP_005249379.1  dystonin isoform X20

    Conserved Domains (10) summary
    pfam05483
    Location:32603925
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:634725
    SPEC; Spectrin repeats
    smart00250
    Location:15781609
    PLEC; Plectin repeat
    cd00014
    Location:178281
    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 ...
    cd00051
    Location:72277289
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:64056620
    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; ...
    pfam00681
    Location:18001840
    Plectin; Plectin repeat
    pfam02187
    Location:73057378
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:72287288
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:41894396
    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; ...
  25. XM_024446530.1XP_024302298.1  dystonin isoform X23

    Conserved Domains (9) summary
    smart00150
    Location:601692
    SPEC; Spectrin repeats
    smart00250
    Location:15451576
    PLEC; Plectin repeat
    COG5069
    Location:28247
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:71947256
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:63726587
    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; ...
    pfam00681
    Location:17671807
    Plectin; Plectin repeat
    pfam02187
    Location:72717345
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cl02488
    Location:11871351
    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; ...
    cl25732
    Location:36134413
    SMC_N; RecF/RecN/SMC N terminal domain
  26. XM_005249316.3XP_005249373.1  dystonin isoform X12

    Conserved Domains (10) summary
    pfam05483
    Location:33504015
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:724815
    SPEC; Spectrin repeats
    smart00250
    Location:16681699
    PLEC; Plectin repeat
    cd00014
    Location:268371
    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 ...
    cd00051
    Location:73177379
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:64956710
    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; ...
    pfam00681
    Location:18901930
    Plectin; Plectin repeat
    pfam02187
    Location:73957468
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:73187378
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:42794486
    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; ...
  27. XM_017011222.2XP_016866711.1  dystonin isoform X30

  28. XM_005249324.3XP_005249381.1  dystonin isoform X24

    Conserved Domains (9) summary
    pfam05483
    Location:29083573
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:282373
    SPEC; Spectrin repeats
    smart00250
    Location:12261257
    PLEC; Plectin repeat
    cd00051
    Location:68756937
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:60536268
    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; ...
    pfam00681
    Location:14481488
    Plectin; Plectin repeat
    pfam02187
    Location:69537026
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:68766936
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:38374044
    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; ...
  29. XM_017011218.1XP_016866707.1  dystonin isoform X25

  30. XM_017011216.2XP_016866705.1  dystonin isoform X17

  31. XM_017011214.2XP_016866703.1  dystonin isoform X14

  32. XM_017011211.2XP_016866700.1  dystonin isoform X10

  33. XM_011514825.3XP_011513127.1  dystonin isoform X28

    Conserved Domains (8) summary
    smart00150
    Location:795886
    SPEC; Spectrin repeats
    COG0419
    Location:12321837
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:223325
    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 ...
    cd00051
    Location:53025364
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd00176
    Location:44804695
    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; ...
    pfam02187
    Location:53805453
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:53035363
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:30573268
    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; ...
  34. XM_017011225.2XP_016866714.1  dystonin isoform X33

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001144771.1: Suppressed sequence

    Description
    NM_001144771.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_020388.3: Suppressed sequence

    Description
    NM_020388.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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