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
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: mouse all

Genomic context

Location:: 6p12.1

Exon count:: 112

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (56457996..56954830, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (56322785..56819426, 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?

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.
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.
Circulating anti-BP230 autoantibodies are not correlated with severity of genital lichen sclerosis or itching.
Title: Circulating anti-BP180 NC16a and anti-BP230 autoantibodies in patients with genital lichen sclerosus do not correlate with disease activity and pruritus.
A key role for BPAG1-e in regulating keratinocyte adhesion and migration and suggest a requirement for this protein in controlling functional switching between integrin types in epithelial cells.
Title: BPAG1-e restricts keratinocyte migration through control of adhesion stability.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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)

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: 299 organisms have orthologs with human gene DST
Orthologs

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	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
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 more info	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
nucleoplasm	IDA Inferred from Direct Assay more info
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

316740..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

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
NM_001374729.1 → NP_001361658.1 dystonin isoform 7

Status: REVIEWED

Source sequence(s)

AL096710, AL137008, AL512422, AL512448, AL590005

Related

ENSP00000354508.3, ENST00000361203.7
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
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
NM_001386100.1 → NP_001373029.1 dystonin isoform 9

Status: REVIEWED

Source sequence(s)

AL096710, AL137008, AL512422, AL512448, AL590005
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, ENST00000370765.10

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, ENST00000421834.6

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 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p13 Primary Assembly

Range

56457996..56954830 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017011215.2 → XP_016866704.1 dystonin isoform X15
XM_017011209.1 → XP_016866698.1 dystonin isoform X6
XM_017011206.1 → XP_016866695.1 dystonin isoform X2
XM_017011210.1 → XP_016866699.1 dystonin isoform X8
XM_017011205.1 → XP_016866694.1 dystonin isoform X1
XM_017011220.1 → XP_016866709.1 dystonin isoform X27
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; ...
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; ...
XM_017011207.1 → XP_016866696.1 dystonin isoform X4
XM_017011212.1 → XP_016866701.1 dystonin isoform X11
XM_017011213.1 → XP_016866702.1 dystonin isoform X13
XM_017011221.1 → XP_016866710.1 dystonin isoform X29
XM_017011223.1 → XP_016866712.1 dystonin isoform X31
XM_017011219.1 → XP_016866708.1 dystonin isoform X26
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; ...
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; ...
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; ...
XM_017011217.1 → XP_016866706.1 dystonin isoform X21
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; ...
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; ...
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
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; ...
XM_017011222.2 → XP_016866711.1 dystonin isoform X30
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; ...
XM_017011218.1 → XP_016866707.1 dystonin isoform X25
XM_017011216.2 → XP_016866705.1 dystonin isoform X17
XM_017011214.2 → XP_016866703.1 dystonin isoform X14
XM_017011211.2 → XP_016866700.1 dystonin isoform X10
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; ...
XM_017011225.2 → XP_016866714.1 dystonin isoform X33

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.