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DST dystonin [ Homo sapiens (human) ]

Gene ID: 667, updated on 24-Nov-2021

Summary

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Official Symbol
DSTprovided by HGNC
Official Full Name
dystoninprovided by HGNC
Primary source
HGNC:HGNC:1090
See related
Ensembl:ENSG00000151914 MIM:113810
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; EBS3; 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
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Genomic context

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See DST in Genome Data Viewer
Location:
6p12.1
Exon count:
112
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (56457996..56954830, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (56322794..56819628, 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 DST antisense RNA 1 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1). Wen D, et al. Clin Exp Dermatol, 2021 Nov 21. PMID 34806203
  2. Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature. Ganani D, et al. Pediatr Dermatol, 2021 Mar. PMID 33471381
  3. Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI. Fortugno P, et al. Hum Mutat, 2019 Jan. PMID 30371979
  4. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Manganelli F, et al. Neurology, 2017 May 30. PMID 28468842, Free PMC Article
  5. One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1. Künzli K, et al. Exp Dermatol, 2016 Jan. PMID 26479498

See all (144) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.
    Title: Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature.
  2. Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma.
    Title: Age related gene DST represents an independent prognostic factor for MYCN non-amplified neuroblastoma.
  3. Disruption of BP230 (BPAG1e)-integrin beta-4 (beta4) binding prevents recruitment of BP230 to hemidesmosomes in keratinocytes.
    Title: Integrin α6β4 Recognition of a Linear Motif of Bullous Pemphigoid Antigen BP230 Controls Its Recruitment to Hemidesmosomes.
  4. novel biallelic mutations in the DST gene encoding dystonin, a large cytolinker protein of the plakin family, in an adult form of Hereditary sensory and autonomic neuropathies type VI, are reported.
    Title: Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
  5. FLG and DST support melanoma cell growth in vitro and in vivo. Growth effects of JUP were only evident in vivo, and may be mediated, in part, by enhancing angiogenesis. In addition, growth-promoting effects of FLG and DST in vitro suggest that these genes may also support melanoma cell proliferation through angiogenesis-independent pathways.
    Title: The Barrier Molecules Junction Plakoglobin, Filaggrin, and Dystonin Play Roles in Melanoma Growth and Angiogenesis.
  6. Our finding suggests that DST alteration may involve in the mechanism of diabetic dementia
    Title: Dystonin/BPAG1 modulates diabetes and Alzheimer's disease cross-talk: a meta-analysis.
  7. A report on 2 novel heterozygous mutations in the dystonin (DST) gene from a family with hereditary sensory and autonomic neuropathy type VI. Induced-pluripotent stem cells findings suggest that the dystonin defect might alter proper development of the peripheral nerves
    Title: Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI.
  8. dystonin and bullous pemphigoid antigen 1 are encoded by the same gene but are different proteins with different diseases [review]
    Title: One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.
  9. Two of the six genes (LAMA3 and DST) validated by quantitative RT-PCR for tumor-specific alternative splicing events
    Title: Expression microarray analysis reveals alternative splicing of LAMA3 and DST genes in head and neck squamous cell carcinoma.
  10. Results identify four families with autosomal recessive EBS from Kuwait in whom the skin fragility is caused by recurrent nonsense mutation in DST-4.
    Title: Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46791, KIAA0465, KIAA1470, DKFZp564B2416

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    316740..501633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001144769.5 → NP_001138241.1  dystonin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    UniProtKB/Swiss-Prot
    Q03001
    UniProtKB/TrEMBL
    B4DSS9, Q6P0N6
    Conserved Domains (8) summary
    smart00150
    Location:786 → 877
    SPEC; Spectrin repeats
    COG0419
    Location:1223 → 1828
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:214 → 316
    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:5293 → 5355
    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:4471 → 4686
    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:5371 → 5444
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:5294 → 5354
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:3048 → 3259
    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_001144770.2 → NP_001138242.1  dystonin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    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:648 → 739
    SPEC; Spectrin repeats
    COG0419
    Location:1085 → 1690
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:76 → 178
    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:5155 → 5217
    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:4333 → 4548
    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:5233 → 5306
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:5156 → 5216
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:2910 → 3121
    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_001374722.1 → NP_001361651.1  dystonin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    Conserved Domains (12) summary
    pfam05483
    Location:1205 → 1480
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00243
    Location:7487 → 7565
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:819 → 910
    SPEC; Spectrin repeats
    smart00250
    Location:1763 → 1794
    PLEC; Plectin repeat
    COG1196
    Location:3831 → 4631
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:208 → 465
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:7412 → 7474
    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:6590 → 6805
    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; ...
    cl02488
    Location:1405 → 1569
    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:1985 → 2025
    Plectin; Plectin repeat
    pfam17902
    Location:1087 → 1153
    SH3_10; SH3 domain
    pfam18373
    Location:1188 → 1265
    Spectrin_like; Spectrin like domain

  4. NM_001374729.1 → NP_001361658.1  dystonin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    Related
    ENSP00000354508.3, ENST00000361203.7
    Conserved Domains (12) summary
    pfam05483
    Location:1033 → 1269
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:608 → 699
    SPEC; Spectrin repeats
    smart00250
    Location:1552 → 1583
    PLEC; Plectin repeat
    COG1196
    Location:3620 → 4420
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:35 → 254
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:7092 → 7154
    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:6270 → 6485
    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; ...
    cl02488
    Location:1194 → 1358
    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:1774 → 1814
    Plectin; Plectin repeat
    pfam02187
    Location:7169 → 7243
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam17902
    Location:876 → 942
    SH3_10; SH3 domain
    pfam18373
    Location:977 → 1054
    Spectrin_like; Spectrin like domain

  5. NM_001374730.1 → NP_001361659.1  dystonin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    Related
    ENSP00000359824.2, ENST00000370788.6
    Conserved Domains (11) summary
    smart00150
    Location:608 → 699
    SPEC; Spectrin repeats
    PHA03307
    Location:5220 → 5375
    PHA03307; transcriptional regulator ICP4; Provisional
    COG0419
    Location:1045 → 1650
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG5069
    Location:35 → 254
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:5006 → 5068
    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:4184 → 4399
    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; ...
    TIGR02168
    Location:1511 → 2304
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    cl02488
    Location:2870 → 3081
    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:5083 → 5157
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam17902
    Location:876 → 942
    SH3_10; SH3 domain
    pfam18373
    Location:977 → 1054
    Spectrin_like; Spectrin like domain

  6. NM_001374734.1 → NP_001361663.1  dystonin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    Conserved Domains (12) summary
    pfam05483
    Location:1214 → 1489
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00243
    Location:7496 → 7574
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:828 → 919
    SPEC; Spectrin repeats
    smart00250
    Location:1772 → 1803
    PLEC; Plectin repeat
    COG1196
    Location:3840 → 4640
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:217 → 474
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:7421 → 7483
    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:6599 → 6814
    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; ...
    cl02488
    Location:1414 → 1578
    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:1994 → 2034
    Plectin; Plectin repeat
    pfam17902
    Location:1096 → 1162
    SH3_10; SH3 domain
    pfam18373
    Location:1197 → 1274
    Spectrin_like; Spectrin like domain

  7. NM_001374736.1 → NP_001361665.1  dystonin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
    Related
    ENSP00000505098.1, ENST00000680361.1
    Conserved Domains (12) summary
    pfam05483
    Location:1205 → 1480
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:819 → 910
    SPEC; Spectrin repeats
    smart00250
    Location:1763 → 1794
    PLEC; Plectin repeat
    COG1196
    Location:3831 → 4631
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG5069
    Location:208 → 465
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:7412 → 7474
    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:6590 → 6805
    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; ...
    cl02488
    Location:1405 → 1569
    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:1985 → 2025
    Plectin; Plectin repeat
    pfam02187
    Location:7489 → 7563
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam17902
    Location:1087 → 1153
    SH3_10; SH3 domain
    pfam18373
    Location:1188 → 1265
    Spectrin_like; Spectrin like domain

  8. NM_001386100.1 → NP_001373029.1  dystonin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    Conserved Domains (11) summary
    pfam05483
    Location:1177 → 1813
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00243
    Location:5190 → 5262
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    smart00150
    Location:608 → 699
    SPEC; Spectrin repeats
    COG1196
    Location:1508 → 2334
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00051
    Location:5115 → 5177
    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:4293 → 4508
    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; ...
    pfam17902
    Location:876 → 942
    SH3_10; SH3 domain
    pfam18373
    Location:977 → 1054
    Spectrin_like; Spectrin like domain
    cd21236
    Location:20 → 147
    CH_DYST_rpt1; first calponin homology (CH) domain found in dystonin and similar proteins
    cd21239
    Location:152 → 255
    CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins
    cl02488
    Location:2870 → 3081
    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. NM_001723.7 → NP_001714.1  dystonin isoform 1e precursor

    See identical proteins and their annotated locations for NP_001714.1

    Status: REVIEWED

    Source sequence(s)
    BU685436, DA462108, L11690
    Consensus CDS
    CCDS4959.1
    UniProtKB/Swiss-Prot
    Q03001
    Related
    ENSP00000359801.6, ENST00000370765.11
    Conserved Domains (8) summary
    pfam05483
    Location:711 → 1373
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:282 → 373
    SPEC; Spectrin repeats
    smart00250
    Location:2515 → 2552
    PLEC; Plectin repeat
    cd00176
    Location:375 → 557
    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:2478 → 2517
    Plectin; Plectin repeat
    pfam03528
    Location:1572 → 1888
    Rabaptin; Rabaptin
    pfam09728
    Location:1430 → 1722
    Taxilin; Myosin-like coiled-coil protein
    cl02488
    Location:868 → 1032
    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. NM_015548.5 → NP_056363.2  dystonin isoform 1eA precursor

    See identical proteins and their annotated locations for NP_056363.2

    Status: REVIEWED

    Source sequence(s)
    AF400226, AK055189, AL137008, AL512448, CD367397, DA462108, L11690
    Consensus CDS
    CCDS47443.1
    UniProtKB/Swiss-Prot
    Q03001
    Related
    ENSP00000244364.6, ENST00000244364.10
    Conserved Domains (7) summary
    smart00150
    Location:282 → 373
    SPEC; Spectrin repeats
    COG0419
    Location:719 → 1324
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00051
    Location:4789 → 4851
    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:3967 → 4182
    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:4867 → 4940
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:4790 → 4850
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:2544 → 2755
    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. NM_183380.4 → NP_899236.1  dystonin isoform 1

    See identical proteins and their annotated locations for NP_899236.1

    Status: REVIEWED

    Source sequence(s)
    AL096710, AL137008, AL512422, AL512448, AL590005
    UniProtKB/Swiss-Prot
    Q03001
    UniProtKB/TrEMBL
    E9PHM6, Q6P0N6
    Related
    ENSP00000400883.3, ENST00000421834.6
    Conserved Domains (8) summary
    smart00150
    Location:608 → 699
    SPEC; Spectrin repeats
    COG0419
    Location:1045 → 1650
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:36 → 138
    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:5115 → 5177
    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:4293 → 4508
    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:5193 → 5266
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:5116 → 5176
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:2870 → 3081
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    56457996..56954830 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011215.2 → XP_016866704.1  dystonin isoform X15

  2. XM_017011209.1 → XP_016866698.1  dystonin isoform X6

  3. XM_017011206.1 → XP_016866695.1  dystonin isoform X2

  4. XM_017011210.1 → XP_016866699.1  dystonin isoform X8

  5. XM_017011205.1 → XP_016866694.1  dystonin isoform X1

  6. XM_017011220.1 → XP_016866709.1  dystonin isoform X27

  7. XM_005249315.3 → XP_005249372.1  dystonin isoform X9

    Conserved Domains (10) summary
    pfam05483
    Location:3412 → 4077
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:786 → 877
    SPEC; Spectrin repeats
    smart00250
    Location:1730 → 1761
    PLEC; Plectin repeat
    cd00014
    Location:214 → 316
    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:7379 → 7441
    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:6557 → 6772
    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:1952 → 1992
    Plectin; Plectin repeat
    pfam02187
    Location:7457 → 7530
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7380 → 7440
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4341 → 4548
    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_011514824.2 → XP_011513126.1  dystonin isoform X7

    Conserved Domains (10) summary
    pfam05483
    Location:3421 → 4086
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:795 → 886
    SPEC; Spectrin repeats
    smart00250
    Location:1739 → 1770
    PLEC; Plectin repeat
    cd00014
    Location:223 → 325
    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:7388 → 7450
    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:6566 → 6781
    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:1961 → 2001
    Plectin; Plectin repeat
    pfam02187
    Location:7466 → 7539
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7389 → 7449
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4350 → 4557
    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_017011207.1 → XP_016866696.1  dystonin isoform X4

  10. XM_017011212.1 → XP_016866701.1  dystonin isoform X11

  11. XM_017011213.1 → XP_016866702.1  dystonin isoform X13

  12. XM_017011221.1 → XP_016866710.1  dystonin isoform X29

  13. XM_017011223.1 → XP_016866712.1  dystonin isoform X31

  14. XM_017011219.1 → XP_016866708.1  dystonin isoform X26

  15. XM_005249319.2 → XP_005249376.1  dystonin isoform X18

    Conserved Domains (10) summary
    pfam05483
    Location:3274 → 3939
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:648 → 739
    SPEC; Spectrin repeats
    smart00250
    Location:1592 → 1623
    PLEC; Plectin repeat
    cd00014
    Location:76 → 178
    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:7241 → 7303
    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:6419 → 6634
    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:1814 → 1854
    Plectin; Plectin repeat
    pfam02187
    Location:7319 → 7392
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7242 → 7302
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4203 → 4410
    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; ...

  16. XM_005249318.2 → XP_005249375.1  dystonin isoform X16

    Conserved Domains (10) summary
    pfam05483
    Location:3307 → 3972
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:681 → 772
    SPEC; Spectrin repeats
    smart00250
    Location:1625 → 1656
    PLEC; Plectin repeat
    cd00014
    Location:225 → 328
    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:7274 → 7336
    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:6452 → 6667
    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:1847 → 1887
    Plectin; Plectin repeat
    pfam02187
    Location:7352 → 7425
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7275 → 7335
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4236 → 4443
    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; ...

  17. XM_005249323.4 → XP_005249380.1  dystonin isoform X22

    Conserved Domains (10) summary
    pfam05483
    Location:3234 → 3899
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:608 → 699
    SPEC; Spectrin repeats
    smart00250
    Location:1552 → 1583
    PLEC; Plectin repeat
    cd00014
    Location:36 → 138
    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:7201 → 7263
    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:6379 → 6594
    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:1774 → 1814
    Plectin; Plectin repeat
    pfam02187
    Location:7279 → 7352
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7202 → 7262
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4163 → 4370
    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; ...

  18. XM_017011217.1 → XP_016866706.1  dystonin isoform X21

  19. XM_005249320.4 → XP_005249377.1  dystonin isoform X19

    Conserved Domains (10) summary
    pfam05483
    Location:3267 → 3932
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:641 → 732
    SPEC; Spectrin repeats
    smart00250
    Location:1585 → 1616
    PLEC; Plectin repeat
    cd00014
    Location:185 → 288
    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:7234 → 7296
    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:6412 → 6627
    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:1807 → 1847
    Plectin; Plectin repeat
    pfam02187
    Location:7312 → 7385
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7235 → 7295
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4196 → 4403
    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_005249322.5 → XP_005249379.1  dystonin isoform X20

    Conserved Domains (10) summary
    pfam05483
    Location:3260 → 3925
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:634 → 725
    SPEC; Spectrin repeats
    smart00250
    Location:1578 → 1609
    PLEC; Plectin repeat
    cd00014
    Location:178 → 281
    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:7227 → 7289
    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:6405 → 6620
    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:1800 → 1840
    Plectin; Plectin repeat
    pfam02187
    Location:7305 → 7378
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7228 → 7288
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4189 → 4396
    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_024446530.1 → XP_024302298.1  dystonin isoform X23

    Conserved Domains (9) summary
    smart00150
    Location:601 → 692
    SPEC; Spectrin repeats
    smart00250
    Location:1545 → 1576
    PLEC; Plectin repeat
    COG5069
    Location:28 → 247
    SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
    cd00051
    Location:7194 → 7256
    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:6372 → 6587
    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:1767 → 1807
    Plectin; Plectin repeat
    pfam02187
    Location:7271 → 7345
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cl02488
    Location:1187 → 1351
    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:3613 → 4413
    SMC_N; RecF/RecN/SMC N terminal domain

  22. XM_005249316.3 → XP_005249373.1  dystonin isoform X12

    Conserved Domains (10) summary
    pfam05483
    Location:3350 → 4015
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:724 → 815
    SPEC; Spectrin repeats
    smart00250
    Location:1668 → 1699
    PLEC; Plectin repeat
    cd00014
    Location:268 → 371
    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:7317 → 7379
    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:6495 → 6710
    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:1890 → 1930
    Plectin; Plectin repeat
    pfam02187
    Location:7395 → 7468
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:7318 → 7378
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:4279 → 4486
    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; ...

  23. XM_017011222.2 → XP_016866711.1  dystonin isoform X30

  24. XM_005249324.3 → XP_005249381.1  dystonin isoform X24

    Conserved Domains (9) summary
    pfam05483
    Location:2908 → 3573
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    smart00150
    Location:282 → 373
    SPEC; Spectrin repeats
    smart00250
    Location:1226 → 1257
    PLEC; Plectin repeat
    cd00051
    Location:6875 → 6937
    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:6053 → 6268
    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:1448 → 1488
    Plectin; Plectin repeat
    pfam02187
    Location:6953 → 7026
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:6876 → 6936
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:3837 → 4044
    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_017011218.1 → XP_016866707.1  dystonin isoform X25

  26. XM_017011216.2 → XP_016866705.1  dystonin isoform X17

  27. XM_017011214.2 → XP_016866703.1  dystonin isoform X14

  28. XM_017011211.2 → XP_016866700.1  dystonin isoform X10

  29. XM_011514825.3 → XP_011513127.1  dystonin isoform X28

    Conserved Domains (8) summary
    smart00150
    Location:795 → 886
    SPEC; Spectrin repeats
    COG0419
    Location:1232 → 1837
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    cd00014
    Location:223 → 325
    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:5302 → 5364
    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:4480 → 4695
    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:5380 → 5453
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    pfam13499
    Location:5303 → 5363
    EF-hand_7; EF-hand domain pair
    cl02488
    Location:3057 → 3268
    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; ...

  30. XM_017011225.2 → XP_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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03001.4 GenPept UniProtKB/Swiss-Prot:Q03001

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