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词条 VPS33A
释义

  1. Function

  2. Interactions

  3. Clinical

  4. References

  5. Further reading

{{Infobox_gene}}Vacuolar protein sorting-associated protein 33A is a protein that in humans is encoded by the VPS33A 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 it encodes a protein similar 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]

Interactions

VPS33A has been shown to interact with VPS11.[3]

Clinical

A syndrome has been described that appears to be associated with muations in this gene.[4]

References

1. ^{{cite journal | vauthors = Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H | title = Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33 | journal = Gene | volume = 264 | issue = 2 | pages = 241–7 | date = March 2001 | pmid = 11250079 | pmc = | doi = 10.1016/S0378-1119(01)00333-X }}
2. ^1 {{cite web | title = Entrez Gene: VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65082| accessdate = }}
3. ^{{cite journal | vauthors = Kim BY, Krämer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa C | title = Molecular characterization of mammalian homologues of class C Vps proteins that interact with syntaxin-7 | journal = J. Biol. Chem. | volume = 276 | issue = 31 | pages = 29393–402 | date = August 2001 | pmid = 11382755 | doi = 10.1074/jbc.M101778200 }}
4. ^Dursun A, Yalnizoglu D, Gerdan OF, Yucel-Yilmaz D, Sagiroglu MS, Yuksel B, Gucer S, Sivri S, Ozgul RK (2016) A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. Clin Dysmorphol

Further reading

{{Refbegin | 2}}
  • {{cite journal | vauthors = Pevsner J, Hsu SC, Hyde PS, Scheller RH | title = Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking | journal = Gene | volume = 183 | issue = 1–2 | pages = 7–14 | year = 1997 | pmid = 8996080 | doi = 10.1016/S0378-1119(96)00367-8 }}
  • {{cite journal | vauthors = Kim BY, Krämer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa C | title = Molecular characterization of mammalian homologues of class C Vps proteins that interact with syntaxin-7 | journal = J. Biol. Chem. | volume = 276 | issue = 31 | pages = 29393–402 | year = 2001 | pmid = 11382755 | doi = 10.1074/jbc.M101778200 }}
  • {{cite journal | vauthors = Suzuki T, Oiso N, Gautam R, Novak EK, Panthier JJ, Suprabha PG, Vida T, Swank RT, Spritz RA | title = The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 3 | pages = 1146–50 | year = 2003 | pmid = 12538872 | pmc = 298741 | doi = 10.1073/pnas.0237292100 }}
  • {{cite journal | vauthors = Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S | title = Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions | journal = Genome Res. | volume = 14 | issue = 9 | pages = 1711–8 | year = 2004 | pmid = 15342556 | pmc = 515316 | doi = 10.1101/gr.2435604 }}
  • {{cite journal | vauthors = Gissen P, Johnson CA, Gentle D, Hurst LD, Doherty AJ, O'Kane CJ, Kelly DA, Maher ER | title = Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights | journal = Hum. Mol. Genet. | volume = 14 | issue = 10 | pages = 1261–70 | year = 2005 | pmid = 15790593 | doi = 10.1093/hmg/ddi137 }}
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