ARHGEF4

Last updated
ARHGEF4
Protein ARHGEF4 PDB 2dx1.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ARHGEF4 , ASEF, ASEF1, GEF4, STM6, Rho guanine nucleotide exchange factor 4, SMIM39
External IDs OMIM: 605216 MGI: 2442507 HomoloGene: 49414 GeneCards: ARHGEF4
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_183019
NM_001368773

RefSeq (protein)

NP_898840
NP_001355702

Location (UCSC) Chr 2: 130.84 – 131.05 Mb Chr 1: 34.68 – 34.81 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rho guanine nucleotide exchange factor 4 is a protein that in humans is encoded by the ARHGEF4 gene. [5] [6]

Function

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. This protein is similar to rat collybistin protein. Alternative splicing of this gene generates two transcript variants that encode different isoforms. Also, there is possibility for the usage of multiple polyadenylation sites for this gene. [6]

Model organisms

Model organisms have been used in the study of ARHGEF4 function. A conditional knockout mouse line, called Arhgef4tm1a(KOMP)Wtsi [14] [15] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. [16] [17] [18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [12] [19] Twenty two tests were carried out on homozygous mutant mice and one significant abnormality was observed: males has atypical peripheral blood lymphocyte parameters, including a decreased B cell number and an increased granulocyte number. [12]

Interactions

ARHGEF4 has been shown to interact with APC. [20]

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000136002 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037509 - 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. Thiesen S, Kübart S, Ropers HH, Nothwang HG (Jul 2000). "Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22". Biochem Biophys Res Commun. 273 (1): 364–9. doi:10.1006/bbrc.2000.2925. PMID   10873612.
  6. 1 2 "Entrez Gene: ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4".
  7. "Dysmorphology data for Arhgef4". Wellcome Trust Sanger Institute.
  8. "Haematology data for Arhgef4". Wellcome Trust Sanger Institute.
  9. "Peripheral blood lymphocytes data for Arhgef4". Wellcome Trust Sanger Institute.
  10. "Salmonella infection data for Arhgef4". Wellcome Trust Sanger Institute.
  11. "Citrobacter infection data for Arhgef4". Wellcome Trust Sanger Institute.
  12. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
  13. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. "International Knockout Mouse Consortium".
  15. "Mouse Genome Informatics".
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  17. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID   21677718.
  18. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
  19. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  20. Kawasaki Y, Senda T, Ishidate T, Koyama R, Morishita T, Iwayama Y, Higuchi O, Akiyama T (2000). "Asef, a link between the tumor suppressor APC and G-protein signaling". Science. 289 (5482): 1194–7. Bibcode:2000Sci...289.1194K. doi:10.1126/science.289.5482.1194. PMID   10947987.

Further reading