Aliases for ABR Gene
External Ids for ABR Gene
Previous GeneCards Identifiers for ABR Gene
This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
GeneCards Summary for ABR Gene
ABR (ABR Activator Of RhoGEF And GTPase) is a Protein Coding gene. Diseases associated with ABR include Cefaclor Allergy and Autosomal Dominant Non-Syndromic Intellectual Disability 19. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is BCR.
UniProtKB/Swiss-Prot Summary for ABR Gene
Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:7479768). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF-1 directed motility and phagocytosis through the modulation of RAC1 activity (By similarity).