VPS33B (VPS33B late endosome and lysosome associated)

2016-10-01  

Identity

HGNC
LOCATION
15q26.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 26276
MIM: 608552
HGNC: 12712
Ensembl: ENSG00000184056

Variants:

dbSNP: 26276
ClinVar: 26276
TCGA: ENSG00000184056
COSMIC: VPS33B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184056ENST00000333371Q9H267
ENSG00000184056ENST00000333371A0A0S2Z577
ENSG00000184056ENST00000535906F5H008
ENSG00000184056ENST00000574755G3V3F9

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150522682004Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.81
184743582008Mycobacterium tuberculosis virulence is mediated by PtpA dephosphorylation of human vacuolar protein sorting 33B.79
161232202005Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis.48
230021152012The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.29
157905932005Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights.25
227530902012Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.21
259479422015VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.17
192747922009Clinical characteristics and VPS33B mutations in patients with ARC syndrome.14
183472892008Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.13
183671542008Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3.13

Citation

Dessen P

VPS33B (VPS33B late endosome and lysosome associated)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56053/vps33b