VPS13A

VPS13A
Identifiers
Aliases VPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDs MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A
RNA expression pattern


More reference expression data
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_001018047.1
NP_001018048.1
NP_056001.1
NP_150648.2

NP_766616.2

Location (UCSC) Chr 9: 77.18 – 77.42 Mb Chr 19: 16.62 – 16.78 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar protein sorting-associated protein 13A is a protein that in humans is encoded by the VPS13A gene.[3][4][5]

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.[5]

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.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ 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 1715977Freely accessible. PMID 9382101.
  4. ↑ 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.
  5. 1 2 "Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)".
  6. ↑ 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.
  7. 1 2 "International Mouse Phenotyping Consortium".
  8. ↑ 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 3572410Freely accessible. PMID 21677750.
  9. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  10. ↑ 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.
  11. ↑ 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 3717207Freely accessible. PMID 23870131.
  12. 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

  • Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032. 
  • Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267Freely accessible. PMID 10737800. 
  • Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A (Jun 2001). "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis". Nature Genetics. 28 (2): 121–2. doi:10.1038/88825. PMID 11381254. 
  • Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP (Apr 2003). "Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula". Movement Disorders. 18 (4): 403–7. doi:10.1002/mds.10361. PMID 12671946. 
  • Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. 
  • Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP (Sep 2004). "Analysis of the human VPS13 gene family". Genomics. 84 (3): 536–49. doi:10.1016/j.ygeno.2004.04.012. PMID 15498460. 
  • Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP (Sep 2005). "Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis". Neurogenetics. 6 (3): 151–8. doi:10.1007/s10048-005-0220-9. PMID 15918062. 


This article is issued from Wikipedia - version of the 5/20/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.