Aliases for GDI1 Gene
External Ids for GDI1 Gene
Previous HGNC Symbols for GDI1 Gene
Previous GeneCards Identifiers for GDI1 Gene
GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]
GeneCards Summary for GDI1 Gene
GDI1 (GDP Dissociation Inhibitor 1) is a Protein Coding gene. Diseases associated with GDI1 include Non-Syndromic X-Linked Intellectual Disability and Epileptic Encephalopathy, Early Infantile, 8. Among its related pathways are Signaling mediated by p38-alpha and p38-beta and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and GDP-dissociation inhibitor activity. An important paralog of this gene is GDI2.
UniProtKB/Swiss-Prot Summary for GDI1 Gene
Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.