TBC1D24
Summary: This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
TBC1 domain family member 24 | MIM:613577 | Ensembl:ENSG00000162065 | HGNC:HGNC:29203 | PA144596267 | 16p13.3 |
GO terms in TBC1D24
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IEA | GO:0005096 | GTPase activator activity |
MF | IPI | GO:0005515 | protein binding |
CC | IDA | GO:0005737 | cytoplasm |
CC | IDA | GO:0005886 | plasma membrane |
CC | IDA | GO:0030054 | cell junction |
CC | ISS | GO:0031594 | neuromuscular junction |
CC | ISS | GO:0043195 | terminal bouton |
BP | IMP | GO:0031175 | neuron projection development |
BP | IEA | GO:0043547 | positive regulation of GTPase activity |
BP | IMP | GO:1902017 | regulation of cilium assembly |
Gene expression in normal tissue: TBC1D24
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TBC1D24
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-199991 | Membrane Trafficking |
reactome | R-HSA-5653656 | Vesicle-mediated transport |
reactome | R-HSA-8854214 | TBC/RABGAPs |
reactome | R-HSA-9007101 | Rab regulation of trafficking |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TBC1D24