VPS33B

VPS33B
Identifiers
Aliases VPS33B
External IDs MGI: 2446237 HomoloGene: 10261 GeneCards: VPS33B
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

26276

233405

Ensembl

ENSG00000184056

ENSMUSG00000030534

UniProt

Q9H267

P59016

RefSeq (mRNA)

NM_001289148
NM_001289149
NM_018668

NM_178070

RefSeq (protein)

NP_001276077.1
NP_001276078.1
NP_061138.3

NP_835171.2

Location (UCSC) Chr 15: 91 – 91.02 Mb Chr 7: 80.27 – 80.29 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar protein sorting-associated protein 33B is a protein that in humans is encoded by the VPS33B gene.[3][4]

Function

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway.[4]

Model organisms

Model organisms have been used in the study of VPS33B function. A conditional knockout mouse line called Vps33btm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[5] Male and female animals underwent a standardized phenotypic screen[6] to determine the effects of deletion.[7][8][9][10] Additional screens performed: - In-depth immunological phenotyping[11]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Pevsner J, Hsu SC, Hyde PS, Scheller RH (Dec 1996). "Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking". Gene. 183 (1-2): 7–14. doi:10.1016/S0378-1119(96)00367-8. PMID 8996080.
  4. 1 2 "Entrez Gene: VPS33B vacuolar protein sorting 33 homolog B (yeast)".
  5. ↑ 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.
  6. 1 2 "International Mouse Phenotyping Consortium".
  7. ↑ 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.
  8. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  9. ↑ 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.
  10. ↑ 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.
  11. 1 2 "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

  • Carim L, Sumoy L, Andreu N, Estivill X, Escarceller M (2000). "Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b". Cytogenetics and Cell Genetics. 89 (1-2): 92–5. doi:10.1159/000015571. PMID 10894945. 
  • Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H (Feb 2001). "Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33". Gene. 264 (2): 241–7. doi:10.1016/S0378-1119(01)00333-X. PMID 11250079. 
  • Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER (Apr 2004). "Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome". Nature Genetics. 36 (4): 400–4. doi:10.1038/ng1325. PMID 15052268. 
  • Gissen P, Johnson CA, Gentle D, Hurst LD, Doherty AJ, O'Kane CJ, Kelly DA, Maher ER (May 2005). "Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights". Human Molecular Genetics. 14 (10): 1261–70. doi:10.1093/hmg/ddi137. PMID 15790593. 
  • Lo B, Li L, Gissen P, Christensen H, McKiernan PJ, Ye C, Abdelhaleem M, Hayes JA, Williams MD, Chitayat D, Kahr WH (Dec 2005). "Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis". Blood. 106 (13): 4159–66. doi:10.1182/blood-2005-04-1356. PMID 16123220. 
  • Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129Freely accessible. PMID 16344560. 


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