Abr, rhogef and gtpase activating protein

Active breakpoint cluster region-related protein is a protein that in humans is encoded by the ABR gene. ^[5]

ABR
Identifiers
Aliases	ABR, MDB, active BCR-related, RhoGEF and GTPase activating protein, ABR activator of RhoGEF and GTPase
External IDs	OMIM: 600365; MGI: 107771; HomoloGene: 11081; GeneCards: ABR; OMA:ABR - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p13.3 Start 1,003,519 bp[1] End 1,229,738 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B5|11 45.92 cM Start 76,307,560 bp[2] End 76,514,384 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superior frontal gyrus right frontal lobe anterior cingulate cortex temporal lobe primary visual cortex amygdala right uterine tube dorsolateral prefrontal cortex nucleus accumbens prefrontal cortex Top expressed in dentate gyrus of hippocampal formation granule cell superior frontal gyrus primary visual cortex entorhinal cortex perirhinal cortex granulocyte zygote anterior amygdaloid area CA3 field lateral septal nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function guanyl-nucleotide exchange factor activity GTPase activator activity protein binding Cellular component cytosol membrane plasma membrane Schaffer collateral - CA1 synapse glutamatergic synapse postsynaptic density, intracellular component intracellular anatomical structure Biological process positive regulation of phagocytosis intracellular signal transduction neuromuscular process controlling balance small GTPase mediated signal transduction negative regulation of blood vessel remodeling negative regulation of cellular extravasation response to lipopolysaccharide regulation of vascular permeability brain development negative regulation of cell migration negative regulation of neutrophil degranulation inner ear morphogenesis positive regulation of apoptotic process regulation of Rho protein signal transduction regulation of small GTPase mediated signal transduction negative regulation of inflammatory response actin cytoskeleton organization signal transduction positive regulation of GTPase activity G protein-coupled receptor signaling pathway modulation of chemical synaptic transmission activation of GTPase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29 109934 Ensembl ENSG00000159842 ENSG00000278741 ENSG00000276016 ENSMUSG00000017631 UniProt Q12979 Q5SSL4 RefSeq (mRNA) NM_001092 NM_001159746 NM_001256847 NM_001282149 NM_021962 NM_001322840 NM_001322841 NM_001322842 NM_001291186 NM_198018 NM_198894 NM_198895 NM_001346670 NM_001363379 RefSeq (protein) NP_001083 NP_001153218 NP_001243776 NP_001269078 NP_001309769 NP_001309770 NP_001309771 NP_068781 NP_001278115 NP_001333599 NP_932135 NP_942597 NP_942598 NP_001350308 Location (UCSC) Chr 17: 1 – 1.23 Mb Chr 11: 76.31 – 76.51 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

See also: RhoGEF, GTPase, and botulinum toxin

The ABR activator of RhoGEF and GTPase, also symbolized as ABR, gene has a reported 13 alternatively spliced transcript variants.^[6] This gene is found to have ubiquitous expression within 23 human tissues, including the heart and brain.^[7] The protein encoded by ABR shares homology with the Breakpoint Cluster Region (BCR) gene located on chromosome 22 and has shown to share similar protein functions.^[8] Additionally, 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. The ABR is an inhibitor of ras-related C3 botulinum toxin substrate 1 (RAC1), a protein found to influence cell growth, motility of the cell, and maintain adhesion to neighboring epithelial cells.^[9] Recent papers suggest ABR has tumor suppressor properties in leukemia because of its role as a RAC1 inhibitor and is being researched as a potential therapy treatment in leukemia patients.^[10] Other studies suggest ABR plays an important role in vestibular morphogenesis.^[11]