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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; OMA:ABR - orthologs
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. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene.[9] [provided by RefSeq, February 2012].

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, Young Jin; Cunnick, Jess M.; Yi, Sun-Ju; Kaartinen, Vesa; Groffen, John; Heisterkamp, Nora (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. ISSN 0270-7306. PMC 1800684. PMID 17116687.
  9. ^ "ABR ABR activator of RhoGEF and GTPase [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-03.

Further reading

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


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