RAB3GAP1
Summary: This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602536 Ensembl IDEnsembl:ENSG00000115839 HGNC IDHGNC:HGNC:17063 PHARMGKB IDPA134969639 Map Location2q21.3 | |||||
GO terms in RAB3GAP1
Loading, please wait...
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005811 | lipid droplet |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: RAB3GAP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RAB3GAP1
Loading, please wait...
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-6811436 | COPI-independent Golgi-to-ER retrograde traffic |
| reactome | R-HSA-6811442 | Intra-Golgi and retrograde Golgi-to-ER traffic |
| reactome | R-HSA-8856688 | Golgi-to-ER retrograde transport |
| reactome | R-HSA-8876198 | RAB GEFs exchange GTP for GDP on RABs |
Gene-Drug: Aster Plot
Loading, please wait...
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Showing 1 to 1 of 1 rows
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RAB3GAP1
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.