Aliases for RAP1GAP Gene
External Ids for RAP1GAP Gene
Previous HGNC Symbols for RAP1GAP Gene
Previous GeneCards Identifiers for RAP1GAP Gene
This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]
GeneCards Summary for RAP1GAP Gene
RAP1GAP (RAP1 GTPase Activating Protein) is a Protein Coding gene. Diseases associated with RAP1GAP include Tuberous Sclerosis and Bleeding Disorder, Platelet-Type, 18. Among its related pathways are Development Angiotensin activation of ERK and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and GTPase activator activity. An important paralog of this gene is RAP1GAP2.
UniProtKB/Swiss-Prot Summary for RAP1GAP Gene
GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.