ARHGEF4

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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
External IDs MGI: 2442507 HomoloGene: 49414 GeneCards: ARHGEF4
RNA expression pattern
PBB GE ARHGEF4 205109 s at fs.png

PBB GE ARHGEF4 211891 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015320
NM_032995

NM_183019

RefSeq (protein)

NP_056135
NP_127462

NP_898840.2
NP_898840

Location (UCSC) Chr 2: 130.84 – 131.05 Mb Chr 1: 34.68 – 34.81 Mb
PubMed search [1] [2]
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.[3][4]

Function[edit]

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.[4]

Model organisms[edit]

Model organisms have been used in the study of ARHGEF4 function. A conditional knockout mouse line, called Arhgef4tm1a(KOMP)Wtsi[12][13] 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.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] 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.[10]

Interactions[edit]

ARHGEF4 has been shown to interact with APC.[18]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4". 
  5. ^ "Dysmorphology data for Arhgef4". Wellcome Trust Sanger Institute. 
  6. ^ "Haematology data for Arhgef4". Wellcome Trust Sanger Institute. 
  7. ^ "Peripheral blood lymphocytes data for Arhgef4". Wellcome Trust Sanger Institute. 
  8. ^ "Salmonella infection data for Arhgef4". Wellcome Trust Sanger Institute. 
  9. ^ "Citrobacter infection data for Arhgef4". Wellcome Trust Sanger Institute. 
  10. ^ a b c 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. 
  11. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ^ "International Knockout Mouse Consortium". 
  13. ^ "Mouse Genome Informatics". 
  14. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  15. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  16. ^ 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. 
  17. ^ 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 3218837Freely accessible. PMID 21722353. 
  18. ^ 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. doi:10.1126/science.289.5482.1194. PMID 10947987. 

External links[edit]

Further reading[edit]