RAB39B
Summary: This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RAB39B, member RAS oncogene family | MIM:311510 | Ensembl:ENSG00000155961 | HGNC:HGNC:16499 | PA34131 | Xq28 |
GO terms in RAB39B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0003924 | GTPase activity |
| MF | IEA | GO:0003924 | GTPase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005525 | GTP binding |
| MF | IPI | GO:0031489 | myosin V binding |
| CC | IBA | GO:0000139 | Golgi membrane |
| CC | IDA | GO:0005622 | intracellular |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0012505 | endomembrane system |
| CC | IEA | GO:0030659 | cytoplasmic vesicle membrane |
| CC | IDA | GO:0031982 | vesicle |
| CC | IDA | GO:0043005 | neuron projection |
| BP | IBA | GO:0006886 | intracellular protein transport |
| BP | IEA | GO:0006914 | autophagy |
| BP | IMP | GO:0010506 | regulation of autophagy |
| BP | IEA | GO:0015031 | protein transport |
| BP | ISS | GO:0016192 | vesicle-mediated transport |
| BP | IBA | GO:0032482 | Rab protein signal transduction |
| BP | ISS | GO:0050808 | synapse organization |
Gene expression in normal tissue: RAB39B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAB39B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| 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-8873719 | RAB geranylgeranylation |
| reactome | R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAB39B
CLASSFICATION
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