Abr, rhogef and gtpase activating protein

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ABR
Identifiers
AliasesABR, MDB, active BCR-related, RhoGEF and GTPase activating protein, ABR activator of RhoGEF and GTPase
External IDsOMIM: 600365 MGI: 107771 HomoloGene: 11081 GeneCards: ABR
Orthologs
SpeciesHumanMouse
Entrez

29

109934

Ensembl

ENSG00000159842
ENSG00000278741
ENSG00000276016

ENSMUSG00000017631

UniProt

Q12979

Q5SSL4

RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 17: 1 – 1.23 MbChr 11: 76.31 – 76.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c ENSG00000278741, ENSG00000276016 GRCh38: Ensembl release 89: ENSG00000159842, ENSG00000278741, ENSG00000276016 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000017631 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: ABR, RhoGEF and GTPase activating protein". Retrieved 2018-05-23.
  6. ^ "Gene: Abr (ENSMUSG00000017631) - Summary - Mus musculus - Ensembl genome browser 89". may2017.archive.ensembl.org. Retrieved 2022-05-03.
  7. ^ "ABR ABR activator of RhoGEF and GTPase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-03.
  8. ^ 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.
  9. ^ "ABR Gene - GeneCards | ABR Protein | ABR Antibody". www.genecards.org. Retrieved 2022-05-17.
  10. ^ 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.
  11. ^ 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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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