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VPS33A

From Wikipedia, the free encyclopedia
VPS33A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesVPS33A, CORVET/HOPS core subunit
External IDsOMIM: 610034; MGI: 1924823; HomoloGene: 11294; GeneCards: VPS33A; OMA:VPS33A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022916

NM_029929
NM_001359513

RefSeq (protein)

NP_075067
NP_001337947
NP_001337948
NP_001337949
NP_001337950

NP_084205
NP_001346442

Location (UCSC)n/aChr 5: 123.67 – 123.71 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar protein sorting-associated protein 33A is a protein that in humans is encoded by the VPS33A gene.[4][5]

Function

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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.[5]

Interactions

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VPS33A has been shown to interact with VPS11.[6]

Clinical

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A syndrome has been described that appears to be associated with mutations in this gene.[7] This syndrome has since been named Mucopolysaccharidosis-plus syndrome.[8]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029434Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H (March 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.
  5. ^ a b "Entrez Gene: VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)".
  6. ^ Kim BY, Krämer H, Yamamoto A, Kominami E, Kohsaka S, Akazawa C (August 2001). "Molecular characterization of mammalian homologues of class C Vps proteins that interact with syntaxin-7". J. Biol. Chem. 276 (31): 29393–402. doi:10.1074/jbc.M101778200. PMID 11382755.
  7. ^ 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
  8. ^ Vasilev F, Sukhomyasova A, Otomo T (2020) Mucopolysaccharidosis-plus syndrome. Int J Mol Sci 21(2)

Further reading

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