VPS13A

VPS13A (Vacuolar protein sorting-associated protein 13A) is a protein that in humans is encoded by the VPS13A gene.^[5][6][7]

VPS13A
Identifiers
Aliases	VPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDs	OMIM: 605978; MGI: 2444304; HomoloGene: 22068; GeneCards: VPS13A; OMA:VPS13A - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.2 Start 77,177,445 bp[1] End 77,421,537 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A- B Start 16,592,730 bp[2] End 16,758,297 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa biceps brachii Skeletal muscle tissue of biceps brachii Achilles tendon testicle left coronary artery Brodmann area 23 hair follicle gastric mucosa rectum Top expressed in spermatocyte secondary oocyte spermatid zygote renal corpuscle medullary collecting duct primary oocyte dentate gyrus of hippocampal formation granule cell lumbar spinal ganglion lumbar subsegment of spinal cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component dense core granule cytosol intracellular anatomical structure extrinsic component of membrane Biological process Golgi to endosome transport protein transport social behavior protein localization locomotory behavior nervous system development autophagy protein targeting to vacuole protein retention in Golgi apparatus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23230 271564 Ensembl ENSG00000197969 ENSMUSG00000046230 UniProt Q96RL7 Q5H8C4 RefSeq (mRNA) NM_001018037 NM_001018038 NM_015186 NM_033305 NM_173028 RefSeq (protein) NP_001018047 NP_001018048 NP_056001 NP_150648 NP_766616 Location (UCSC) Chr 9: 77.18 – 77.42 Mb Chr 19: 16.59 – 16.76 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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.^[7]