InnateDB Protein
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IDBP-30778.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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VPS33B
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Protein Name
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vacuolar protein sorting 33 homolog B (yeast)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000327650
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InnateDB Gene
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IDBG-30774 (VPS33B)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
Ubiquitous; highly expressed in testis and low expression in the lung.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
34
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001619
Sec1-like protein
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PFAM |
PF00995
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PRINTS |
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PIRSF |
PIRSF005715
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H267
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PhosphoSite |
PhosphoSite-Q9H267
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TrEMBL |
B3KQF6
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UniProt Splice Variant |
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Entrez Gene |
26276
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UniGene |
Hs.459366
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RefSeq |
NP_061138
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HUGO |
HGNC:12712
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OMIM |
608552
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CCDS |
CCDS10369
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HPRD |
10541
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IMGT |
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EMBL |
AC068831
AF201694
AF308803
AK027754
AK074863
AL357472
BC016445
CH471101
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GenPept |
AAF91174
AAG34680
AAH16445
BAB55345
BAG52018
CAB93109
EAX02140
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