VPS13A

VPS13A
Identifiers
Aliases	VPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDs	OMIM: 605978; MGI: 2444304; GeneCards: VPS13A
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
Databases	NCBI: entry; OMA: entry
	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.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000197969 – Ensembl, May 2017
1 2 3 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.
1 2 "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 adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000197969 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 1 2 "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".

VPS13A

Function

References

Further reading

External links