DST dystonin [Homo sapiens (human)] - Gene

Summary

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

Location:: 6p12.1

Exon count:: 109

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (56457996..56954830, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (56299279..56793877, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (56322794..56819628, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Title: Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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 3, localized or generalized intermediate, with BP230 deficiency MedGen: C3809470 OMIM: 615425 GeneReviews: Epidermolysis Bullosa Simplex	Compare labs
Hereditary sensory and autonomic neuropathy type 6 MedGen: C3539003 OMIM: 614653 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15996 (e-PCR)
- UniSTS:55081

RH17608 (e-PCR)
- UniSTS:77373

RH46661 (e-PCR)
- UniSTS:71490

SHGC-79922 (e-PCR)
- UniSTS:101490

RH68749 (e-PCR)
- UniSTS:54134

G32793 (e-PCR)
- UniSTS:117372

SHGC-83552 (e-PCR)
- UniSTS:101757

RH122815 (e-PCR)
- UniSTS:135050

GDB:377035 (e-PCR)
- UniSTS:157069

STS-H44575 (e-PCR)
- UniSTS:83350

SHGC-84466 (e-PCR)
- UniSTS:102820

D6S1159E (e-PCR)
- UniSTS:26810

D6S1122E (e-PCR)
- UniSTS:21947

D6S2014 (e-PCR)
- UniSTS:49346

STS-M69225 (e-PCR)
- UniSTS:5061

EST4G12 (e-PCR)
- UniSTS:263370

RH68834 (e-PCR)
- UniSTS:3813

A009Q46 (e-PCR)
- UniSTS:78578

RH65030 (e-PCR)
- UniSTS:57331

Homology

Homologs of the DST gene: The DST gene is conserved in cow, fruit fly, and C.elegans.
Orthologs from Annotation Pipeline: 425 organisms have orthologs with human gene DST
Orthologs

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 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 more info	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
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 more info	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

NG_029322.2 RefSeqGene

Range

4799..501633

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000393082.3, ENST00000449297.7

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

Status: REVIEWED

Source sequence(s)

AL096710, AL137008, AL512422, AL512448, AL590005

Consensus CDS

CCDS93935.1

UniProtKB/TrEMBL

F8W9J4

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
NM_001374730.1 → NP_001361659.1 dystonin isoform 8

Status: REVIEWED

Source sequence(s)

AL096710, AL137008, AL512422, AL512448, AL590005

Consensus CDS

CCDS93934.1

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
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
NM_001374736.1 → NP_001361665.1 dystonin isoform 4

Status: REVIEWED

Source sequence(s)

AL096710, AL137008, AL512422, AL512448, AL590005, AL590037

Consensus CDS

CCDS93936.1

UniProtKB/TrEMBL

A0A7P0T890

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
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; ...
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; ...
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; ...
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, ENST00000421834.7

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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

56457996..56954830 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

56299279..56793877 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.