VPS33B

VPS33B
Identifiers
Aliases	VPS33B , late endosome and lysosome associated, VPS33B late endosome and lysosome associated
External IDs	OMIM: 608552 MGI: 2446237 HomoloGene: 10261 GeneCards: VPS33B
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q26.1 Start 90,998,673 bp [1] End 91,022,603 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 D2 Start 79,919,397 bp [2] End 79,941,502 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell Brodmann area 23 middle temporal gyrus amniotic fluid endothelial cell cerebellar hemisphere retinal pigment epithelium prefrontal cortex palpebral conjunctiva anterior pituitary Top expressed in secondary oocyte supraoptic nucleus saccule aortic valve spermatocyte otic placode ascending aorta morula submandibular gland cerebellar cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm HOPS complex platelet alpha granule recycling endosome AP-3 adaptor complex endosome late endosome early endosome membrane membrane late endosome membrane clathrin complex lysosomal membrane early endosome perinuclear region of cytoplasm lysosome cytoplasmic vesicle clathrin-coated vesicle Biological process megakaryocyte development endosome to lysosome transport platelet alpha granule organization membrane fusion melanosome localization endosome organization vesicle docking involved in exocytosis autophagosome maturation lysosome localization transport protein transport vesicle-mediated transport regulation of platelet aggregation Sources:Amigo / QuickGO
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 NP_001276078 NP_061138 NP_835171 Location (UCSC) Chr 15: 91 – 91.02 Mb Chr 7: 79.92 – 79.94 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Vacuolar protein sorting-associated protein 33B is a protein that in humans is encoded by the VPS33B gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000184056 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030534 - 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. 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.
6. "Entrez Gene: VPS33B vacuolar protein sorting 33 homolog B (yeast)".

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. S2CID   38825448.
• 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   1356129 . PMID   16344560.