RAB33B
Summary: This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:605950 Ensembl IDEnsembl:ENSG00000172007 HGNC IDHGNC:HGNC:16075 PHARMGKB IDPA34125 Map Location4q31.1 | |||||
GO terms in RAB33B
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0000045 | autophagosome assembly |
| BP | IMP | GO:0001558 | regulation of cell growth |
| BP | IBA | GO:0006886 | intracellular protein transport |
| BP | IBA | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IMP | GO:0006891 | intra-Golgi vesicle-mediated transport |
| BP | IEA | GO:0015031 | protein transport |
Gene expression in normal tissue: RAB33B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAB33B
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6811438 | Intra-Golgi traffic |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAB33B
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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