VPS33A (VPS33A core subunit of CORVET and HOPS complexes)

2012-03-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
MPSPS
FUSION GENES

Other Information

Locus ID:

NCBI: 65082
MIM: 610034
HGNC: 18179
Ensembl: ENSG00000139719

Variants:

dbSNP: 65082
ClinVar: 65082
TCGA: ENSG00000139719
COSMIC: VPS33A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139719ENST00000267199Q96AX1
ENSG00000139719ENST00000451053F5H6Y0
ENSG00000139719ENST00000536212F5H2X5
ENSG00000139719ENST00000541169A0A2R8Y5U3
ENSG00000139719ENST00000543633F5H7N5
ENSG00000139719ENST00000544349A0A2R8Y5F6
ENSG00000139719ENST00000643696A0A2R8YF87

Expression (GTEx)

0
5
10
15
20
25
30

References

Pubmed IDYearTitleCitations
125388722003The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.47
257832032015Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.37
286739652017Accumulation of autophagosomes confers cytotoxicity.26
157905932005Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.25
280132942017Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.10
222039542012Targeting protein-trafficking pathways alters melanoma treatment sensitivity.8
275479152017A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.5
306552942019A VPS33A-binding motif on syntaxin 17 controls autophagy completion in mammalian cells.3
308980382019Elevated pulmonary tuberculosis biomarker miR-423-5p plays critical role in the occurrence of active TB by inhibiting autophagosome-lysosome fusion.1

Citation

Dessen P

VPS33A (VPS33A core subunit of CORVET and HOPS complexes)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52644/vps33a