VPS13A

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)
End	77,421,537 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	16,758,297 bp
RNA expression pattern
	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
	; ;
	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
	23230
	271564
	ENSG00000197969
	ENSMUSG00000046230
	Q96RL7
	Q5H8C4
	NM_001018037; NM_001018038; NM_015186; NM_033305
	NM_173028
	NP_001018047; NP_001018048; NP_056001; NP_150648
	NP_766616
	Wikidata
View/Edit Human	View/Edit Mouse

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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000197969 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000046230 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP (Oct 1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". American Journal of Human Genetics. 61 (4): 899–908. doi:10.1086/514876. PMC 1715977. PMID 9382101.
^ Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP (Jun 2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nature Genetics. 28 (2): 119–20. doi:10.1038/88821. PMID 11381253. S2CID 2754015.
^ ^a ^b "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".

External links

GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197969 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000046230 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9382101-5] Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP (Oct 1997). "Chorea-acanthocytosis: genetic linkage to chromosome 9q21". American Journal of Human Genetics. 61 (4): 899–908. doi:10.1086/514876. PMC 1715977. PMID 9382101.

[pmid11381253-6] Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP (Jun 2001). "A conserved sorting-associated protein is mutant in chorea-acanthocytosis". Nature Genetics. 28 (2): 119–20. doi:10.1038/88821. PMID 11381253. S2CID 2754015.

[entrez-7] "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".

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VPS13A

Function

References

Further reading

External links

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