Homo sapiens Gene: VPS13A

Summary
InnateDB Gene IDBG-72184.5
Last Modified 2012-02-14   [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
IDBP-72186 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-72188 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-72190 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-72194 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-72196 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-373618 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-594762 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-595550 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-601301 vacuolar protein sorting 13 homolog A (S. cerevisiae)
IDBP-584569 vacuolar protein sorting 13 homolog A (S. cerevisiae)
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: 79792269-80036457
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
ENST00000545365  ENSP00000444300
ENST00000539950 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein‑Protein  10
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000046230 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000017734 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q96RL7 
TrEMBL B1ALW4 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 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  CAI39539  CAI40935  CAI40936  CAI40938 
ImmGen VPS13A (murine) 
RNA Seq Atlas 23230