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
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
dystonin
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Alpha6Beta4Integrin pathway
REACTOME
Cell-Cell communication pathway
Cell junction organization pathway
Type I hemidesmosome assembly pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Validated transcriptional targets of TAp63 isoforms
Cross-References
SwissProt
TrEMBL E7ESK0 Q86T18 Q8WXY3
UniProt Splice Variant
Entrez Gene 667
UniGene Hs.604915 Hs.605247 Hs.659671 Hs.690409 Hs.714159 Hs.721344 Hs.728928
RefSeq NM_183380 NM_015548 NM_001723 NM_001144770 NM_001144769 XM_006715169 XM_005249317 XM_005249326
HUGO HGNC:1090
OMIM 113810
CCDS CCDS47443 CCDS4959 CCDS75474
HPRD 00222
IMGT
EMBL AF325328 AL096710 AL137008 AL512422 AL512448 AL590005 AL590037 BC051772
GenPept AAH51772 AAL38996
RNA Seq Atlas 667