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ARHGEF5 (Rho guanine nucleotide exchange factor (GEF) 5)

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What is MOCA?
MOCA FAQ...
Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

Rho guanine nucleotide exchange factor 5 (Arhgef5) is crucial for podosome formation, which are membrane protrusions that play a crucial role in cell adhesion and migration and extracellular matrix remodeling. There are 2-6 more copies in the human genome of Arhgef5 than in any other primate. The significance of these copies in human is unknown.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
ARHGEF5 (ARHGEF5: Rho guanine nucleotide exchange factor (GEF) 5)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Probable Appearance: 
2000 Thousand Years
Definite Appearance: 
6000 Thousand Years
References: 

Kuroiwa M, Oneyama C, Nada S, Okada M. The guanine nucleotide exchange factor Arhgef5 plays crucial roles in Src-induced podosome formation. J Cell Sci. 2011 May 15;124(Pt 10):1726-38. PMID: 21525037

 

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649

 

Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450

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