| 简介 | 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]
Diseases associated with ABR include Theileriasis. Among its related pathways are p75 NTR receptor-mediated signalling and RHOC GTPase cycle. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is BCR.
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:17116687, 7479768).
The central Dbl homology (DH) domain functions as a 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).
BCR-related gene,active
Cell projection, dendritic spine {ECO:0000250 UniProtKB:Q5SSL4}
Cell projection, axon {ECO:0000250 UniProtKB:Q5SSL4}
Synapse {ECO:0000250 UniProtKB:A0A0G2JTR4}
Quaternary structure:
Interacts with DLG4. |
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