InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: DST

Summary

InnateDB Gene

IDBG-91303.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DST

Gene Name

dystonin

Synonyms

BP240; BPA; BPAG1; CATX-15; CATX15; D6S1101; DMH; DT; EBSB2; HSAN6; MACF2

Species

Homo sapiens

Ensembl Gene

ENSG00000151914

Encoded Proteins

IDBP-91305

dystonin

IDBP-91307

dystonin

IDBP-91313

dystonin

IDBP-91315

dystonin

IDBP-91317

dystonin

IDBP-91321

dystonin

IDBP-382240

dystonin

IDBP-382248

dystonin

IDBP-382253

dystonin

IDBP-479587

dystonin

IDBP-483609

dystonin

IDBP-478849

dystonin

IDBP-483654

dystonin

IDBP-479522

dystonin

IDBP-475746

dystonin

IDBP-478684

dystonin

IDBP-475808

dystonin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:56457987-56954628

Strand

Reverse strand

Band

p12.1

Transcripts

ENST00000370788	ENSP00000359824
ENST00000361203	ENSP00000354508
ENST00000340834
ENST00000312431	ENSP00000307959
ENST00000244364	ENSP00000244364
ENST00000370765	ENSP00000359801
ENST00000370754	ENSP00000359790
ENST00000421834	ENSP00000400883
ENST00000439203	ENSP00000404924
ENST00000449297	ENSP00000393082
ENST00000523292	ENSP00000431020
ENST00000466429
ENST00000518464
ENST00000482156
ENST00000523597
ENST00000524216
ENST00000523943	ENSP00000430472
ENST00000492944
ENST00000517840
ENST00000487754
ENST00000459869
ENST00000524186
ENST00000520144
ENST00000518398	ENSP00000431121
ENST00000520645	ENSP00000431030
ENST00000522360	ENSP00000428068
ENST00000518935	ENSP00000431003
ENST00000523967
ENST00000521104
ENST00000518828
ENST00000521821
ENST00000522538	ENSP00000429075
ENST00000523817	ENSP00000429221
ENST00000517937
ENST00000524302

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.

Experimentally validated
Total	47 [view]
Protein-Protein	45 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005178	integrin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008017	microtubule binding
GO:0008022	protein C-terminus binding
GO:0042626	ATPase activity, coupled to transmembrane movement of substances
GO:0042803	protein homodimerization activity
GO:0051010	microtubule plus-end binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0006810	transport
GO:0007010	cytoskeleton organization
GO:0007050	cell cycle arrest
GO:0007155	cell adhesion
GO:0007229	integrin-mediated signaling pathway
GO:0007409	axonogenesis
GO:0008090	retrograde axon cargo transport
GO:0009405	pathogenesis
GO:0009611	response to wounding
GO:0030011	maintenance of cell polarity
GO:0030198	extracellular matrix organization
GO:0031110	regulation of microtubule polymerization or depolymerization
GO:0031122	cytoplasmic microtubule organization
GO:0031581	hemidesmosome assembly
GO:0045104	intermediate filament cytoskeleton organization
GO:0048870	cell motility
GO:0055085	transmembrane transport

Cellular Component

GO:0005604	basement membrane
GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005737	cytoplasm
GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005882	intermediate filament
GO:0005938	cell cortex
GO:0009925	basal plasma membrane
GO:0015629	actin cytoskeleton
GO:0015630	microtubule cytoskeleton
GO:0016021	integral component of membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030018	Z disc
GO:0030056	hemidesmosome
GO:0030424	axon
GO:0031252	cell leading edge
GO:0031673	H zone
GO:0035371	microtubule plus-end
GO:0045111	intermediate filament cytoskeleton
GO:0060053	neurofilament cytoskeleton
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026131

View Gene Order

ENSBTAG00000021237

Not yet available

Pathways

NETPATH

NetPath_1

Alpha6Beta4Integrin pathway

REACTOME

REACT_20537

Type I hemidesmosome assembly pathway

REACT_111155

Cell-Cell communication pathway

REACT_20676

Cell junction organization pathway

KEGG

INOH

PID NCI

tap63pathway

Validated transcriptional targets of TAp63 isoforms

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.604915 Hs.605247 Hs.659671 Hs.690409 Hs.714159 Hs.721344 Hs.728928

RefSeq

NM_001144769 NM_001144770 NM_001723 NM_015548 NM_183380 XM_005249317 XM_005249326 XM_006715169

HUGO

OMIM

CCDS

CCDS47443 CCDS4959 CCDS75474

HPRD

00222

IMGT

EMBL

GenPept

RNA Seq Atlas