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
AliasesVPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDsOMIM: 605978 MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A
Orthologs
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

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]

Model organisms

Model organisms have been used in the study of VPS13A function. A conditional knockout mouse line called Vps13atm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[8] Male and female animals underwent a standardized phenotypic screen[9] to determine the effects of deletion.[10][11][12][13] Additional screens performed: - In-depth immunological phenotyping[14]

References

  1. GRCh38: Ensembl release 89: ENSG00000197969 - Ensembl, May 2017
  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.
  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. "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".
  8. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  9. "International Mouse Phenotyping Consortium".
  10. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  13. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  14. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading


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