Biology:VPS33B
 Generic protein structure example |
Vacuolar protein sorting-associated protein 33B is a protein that in humans is encoded by the VPS33B gene.[1][2]
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.[2]
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.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: In-depth immunological phenotyping[9]
| Characteristic | Phenotype |
|---|---|
| All data available at.[4][9] | |
| 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
- ↑ "Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking". Gene 183 (1–2): 7–14. Dec 1996. doi:10.1016/S0378-1119(96)00367-8. PMID 8996080.
- ↑ 2.0 2.1 "Entrez Gene: VPS33B vacuolar protein sorting 33 homolog B (yeast)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26276.
- ↑ 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.
- ↑ 4.0 4.1 "International Mouse Phenotyping Consortium". http://www.mousephenotype.org/data/search?q=Vps33b#fq=*:*&facet=gene.
- ↑ "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. Jun 2011. doi:10.1038/nature10163. PMID 21677750.
- ↑ "Mouse library set to be knockout". Nature 474 (7351): 262–3. Jun 2011. doi:10.1038/474262a. PMID 21677718.
- ↑ "A mouse for all reasons". Cell 128 (1): 9–13. Jan 2007. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ↑ "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. Jul 2013. doi:10.1016/j.cell.2013.06.022. PMID 23870131.
- ↑ 9.0 9.1 "Infection and Immunity Immunophenotyping (3i) Consortium". http://www.immunophenotyping.org/data/search?keys=Vps33b&field_gene_construct_tid=All.
Further reading
- "Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b". Cytogenetics and Cell Genetics 89 (1–2): 92–5. 2000. doi:10.1159/000015571. PMID 10894945.
- "Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33". Gene 264 (2): 241–7. Feb 2001. doi:10.1016/S0378-1119(01)00333-X. PMID 11250079.
- "Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome". Nature Genetics 36 (4): 400–4. Apr 2004. doi:10.1038/ng1325. PMID 15052268.
- "Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights". Human Molecular Genetics 14 (10): 1261–70. May 2005. doi:10.1093/hmg/ddi137. PMID 15790593.
- "Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis". Blood 106 (13): 4159–66. Dec 2005. doi:10.1182/blood-2005-04-1356. PMID 16123220.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. Jan 2006. doi:10.1101/gr.4039406. PMID 16344560.
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