VPS13A

23230

VPS13A
VPS13A
Identifiers
AliasesVPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDsOMIM: 605978; MGI: 2444304; GeneCards: VPS13A
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 MbChr 19: 16.59 – 16.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000197969 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".

Further reading


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