Homo sapiens Gene: VPS13A
Summary
InnateDB Gene IDBG-72184.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS13A
Gene Name vacuolar protein sorting 13 homolog A (S. cerevisiae)
Synonyms CHAC; CHOREIN;
Species Homo sapiens
Ensembl Gene ENSG00000197969
Encoded Proteins
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
vacuolar protein sorting 13 homolog A (S. cerevisiae)
Protein Structure
Entrez Gene
Summary The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:77177353-77421541
Strand Forward strand
Band q21.2
Transcripts
ENST00000376646 ENSP00000365834
ENST00000360280 ENSP00000353422
ENST00000376636 ENSP00000365823
ENST00000355766
ENST00000357409 ENSP00000349985
ENST00000376634 ENSP00000365821
ENST00000423463
ENST00000419472 ENSP00000414410
ENST00000471439
ENST00000493341 ENSP00000437478
ENST00000484581 ENSP00000446020
ENST00000467124 ENSP00000441840
ENST00000539950
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006895 Golgi to endosome transport
GO:0007399 nervous system development
GO:0007626 locomotory behavior
GO:0008104 protein localization
GO:0008219 cell death
GO:0015031 protein transport
GO:0035176 social behavior
Cellular Component
GO:0005622 intracellular
GO:0031045 dense core granule
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
Cross-References
SwissProt Q96RL7
TrEMBL H0YF78
UniProt Splice Variant
Entrez Gene 23230
UniGene Hs.459790 Hs.611081 Hs.655754 Hs.731962
RefSeq NM_001018037 NM_001018038 NM_015186 NM_033305
HUGO HGNC:1908
OMIM 605978
CCDS CCDS47983 CCDS55321 CCDS6655 CCDS6656
HPRD 05814
IMGT
EMBL AB023203 AB054005 AF337532 AJ608769 AJ626859 AK022967 AL158159 AL353710 AL359204 BC020576 BC041852
GenPept AAH20576 AAH41852 AAK61861 BAA76830 BAB14337 BAB59128 CAE75581 CAF25186 CAH74105 CAH74106 CAI39537 CAI39538 CAI40935 CAI40936
ImmGen VPS13A (murine)
RNA Seq Atlas 23230