RBCC Red Blood Cell Collection

VP33B_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: VPS33B
Protein names and data: VP33B_HUMAN , Vacuolar protein sorting-associated protein 33B; hVPS33B Lenght: 617 a.a.
Mass: 70585 Da
fasta formatted sequence
Function: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages.
Disease: ( OMIM: 208085 608552 ) Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085]: A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic, peripheral membrane protein associated with late endosomes/lysosomes. Colocalizes with M.tuberculosis PtpA in the cytosol of tuberculosis-infected macrophages and associates with phagosomes. Colocalizes in clusters with VIPAS39 at cytoplasmic organelles.
Tissue specificity: Ubiquitous; highly expressed in testis and low expression in the lung.

Genetic variants

30 - 30 L -> P (in ARCS1; interacts with VIPAS39 but does not colocalize with VIPAS39 at cytoplasmic organelles). VAR_018983
243 - 243 S -> F (in ARCS1). VAR_057901
513 - 513 F -> S (in dbSNP:rs3177428). VAR_057330 3177428
514 - 514 G -> S (in dbSNP:rs11073964). VAR_013828 11073964

Database cross-references

UniProt: Q9H267
Ensembl: ENST00000333371
MIM: 208085
MIM: 608552
neXtProt: NX_Q9H267
Antibodypedia: Q9H267 (may not find the protein thus also not any antibody)
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