VPS33B

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

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 90,998,416 bp[1] End 91,022,603 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 D2 Start 80,269,649 bp[2] End 80,291,754 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 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 • Lipid bilayer fusion • melanosome localization • endosome organization • vesicle docking involved in exocytosis • GO:0000046 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: 80.27 – 80.29 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Model organisms

Model organisms have been used in the study of VPS33B function. A conditional knockout mouse line called Vps33b^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: In-depth immunological phenotyping[13]

Vps33b knockout mouse phenotype

Characteristic	Phenotype
All data available at.[8][13]
Peripheral blood leukocytes 6 Weeks	Normal
Haematology 6 Weeks	Normal
Insulin	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	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
Salmonella infection	Normal
Epidermal Immune Composition	Normal

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)".
7. 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.
8. "International Mouse Phenotyping Consortium".
9. 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.
10. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
11. 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.
12. 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.
13. "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 1356129. PMID 16344560.