VPS13A

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

VPS13A
Identifiers
Aliases	VPS13A, CHAC, CHOREIN, vacuolar protein sorting 13 homolog A
External IDs	OMIM: 605978 MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.2 Start 77,177,445 bp[1] End 77,421,537 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 A-B Start 16,615,366 bp[2] End 16,780,933 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • dense core granule • cytosol • intracellular • extrinsic component of membrane Biological process • Golgi to endosome transport • protein transport • social organism behavior • protein localization • locomotory behavior • nervous system development • autophagy • protein targeting to vacuole • protein retention in Golgi apparatus Sources:Amigo / QuickGO
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 NP_001018048 NP_056001 NP_150648	NP_766616
Location (UCSC)	Chr 9: 77.18 – 77.42 Mb	Chr 19: 16.62 – 16.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/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 Vps13a^{tm1b(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]

Vps13a knockout mouse phenotype

Characteristic	Phenotype
All data available at.[9][14]
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Abnormal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

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

• 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 16267. 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. S2CID 29708129.
• 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. S2CID 34308711.
• 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. S2CID 27764390.
• 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. S2CID 10875246.

External links

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