Abr, rhogef and gtpase activating protein

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)
End	1,229,738 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	76,514,384 bp
RNA expression pattern
	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
	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
	29
	109934
	ENSG00000159842; ENSG00000278741; ENSG00000276016
	ENSMUSG00000017631
	Q12979
	Q5SSL4
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

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

Function

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]

References

^ ^a ^b ^c ENSG00000278741, ENSG00000276016 GRCh38: Ensembl release 89: ENSG00000159842, ENSG00000278741, ENSG00000276016 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000017631 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: ABR, RhoGEF and GTPase activating protein". Retrieved 2018-05-23.
^ "Gene: Abr (ENSMUSG00000017631) - Summary - Mus musculus - Ensembl genome browser 89". may2017.archive.ensembl.org. Retrieved 2022-05-03.
^ "ABR ABR activator of RhoGEF and GTPase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-03.
^ Cho YJ, Cunnick JM, Yi SJ, Kaartinen V, Groffen J, Heisterkamp N (February 2007). "Abr and Bcr, two homologous Rac GTPase-activating proteins, control multiple cellular functions of murine macrophages". Molecular and Cellular Biology. 27 (3): 899–911. doi:10.1128/MCB.00756-06. PMC 1800684. PMID 17116687.
^ "ABR Gene - GeneCards | ABR Protein | ABR Antibody". www.genecards.org. Retrieved 2022-05-17.
^ Namasu CY, Katzerke C, Bräuer-Hartmann D, Wurm AA, Gerloff D, Hartmann JU, Schwind S, Müller-Tidow C, Hilger N, Fricke S, Christopeit M (2017-11-28). "ABR, a novel inducer of transcription factor C/EBPα, contributes to myeloid differentiation and is a favorable prognostic factor in acute myeloid leukemia". Oncotarget. 8 (61): 103626–103639. doi:10.18632/oncotarget.22093. ISSN 1949-2553. PMC 5732755. PMID 29262589.
^ Kaartinen V, Nagy A, Gonzalez-Gomez I, Groffen J, Heisterkamp N (April 2002). "Vestibular dysgenesis in mice lacking Abr and Bcr Cdc42/RacGAPs". Developmental Dynamics. 223 (4): 517–525. doi:10.1002/dvdy.10071. ISSN 1058-8388. PMID 11921339. S2CID 29212113.

Function

References

Further reading