Homo sapiens Protein: VPS33B
Summary
InnateDB Protein IDBP-30778.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VPS33B
Protein Name vacuolar protein sorting 33 homolog B (yeast)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000327650
InnateDB Gene IDBG-30774 (VPS33B)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:18474358}.
Subcellular Localization 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.
Disease Associations 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. {ECO:0000269PubMed:15052268, ECO:0000269PubMed:18853461}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitous; highly expressed in testis and low expression in the lung.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 35 [view]
Protein-Protein 34 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006904 vesicle docking involved in exocytosis
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0032400 melanosome localization
GO:0032418 lysosome localization
GO:0061025 membrane fusion
GO:0070889 platelet alpha granule organization
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0030897 HOPS complex
GO:0031091 platelet alpha granule
GO:0031902 late endosome membrane
GO:0048471 perinuclear region of cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR001619 Sec1-like protein
PFAM PF00995
PRINTS
PIRSF PIRSF005715
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H267
PhosphoSite PhosphoSite-Q9H267
TrEMBL B3KQF6
UniProt Splice Variant
Entrez Gene 26276
UniGene Hs.459366
RefSeq NP_061138
HUGO HGNC:12712
OMIM 608552
CCDS CCDS10369
HPRD 10541
IMGT
EMBL AC068831 AF201694 AF308803 AK027754 AK074863 AL357472 BC016445 CH471101
GenPept AAF91174 AAG34680 AAH16445 BAB55345 BAG52018 CAB93109 EAX02140