Protein-coding gene in the species Homo sapiens
ABR |
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Identifiers |
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Aliases | ABR, MDB, active BCR-related, RhoGEF and GTPase activating protein, ABR activator of RhoGEF and GTPase |
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External IDs | OMIM: 600365; MGI: 107771; HomoloGene: 11081; GeneCards: ABR; OMA:ABR - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 17 (human)[1] |
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| Band | 17p13.3 | Start | 1,003,519 bp[1] |
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End | 1,229,738 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 11 (mouse)[2] |
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| Band | 11 B5|11 45.92 cM | Start | 76,307,560 bp[2] |
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End | 76,514,384 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | |
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ENSG00000159842 ENSG00000278741 ENSG00000276016 |
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UniProt | | |
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RefSeq (mRNA) | NM_001092 NM_001159746 NM_001256847 NM_001282149 NM_021962
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NM_001322840 NM_001322841 NM_001322842 |
| NM_001291186 NM_198018 NM_198894 NM_198895 NM_001346670
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NM_001363379 |
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RefSeq (protein) | NP_001083 NP_001153218 NP_001243776 NP_001269078 NP_001309769
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NP_001309770 NP_001309771 NP_068781 |
| NP_001278115 NP_001333599 NP_932135 NP_942597 NP_942598
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NP_001350308 |
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Location (UCSC) | Chr 17: 1 – 1.23 Mb | Chr 11: 76.31 – 76.51 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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ABR, RhoGEF and GTPase activating 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 is located on Chromosome 11 and 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 gene 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.
Further reading
- 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. PMID 11921339. S2CID 29212113.
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Molecular Medicine. 16 (7–8): 247–253. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.