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Gtpase-activating Protein, Rac, 1 OKDB#: 1178
 Symbols: RACGAP1 Species: human
 Synonyms: RAC GTPase-ACTIVATING PROTEIN 1| RAC GTPase-ACTIVATING PROTEIN, MALE GERM CELL, MGCRACGAP|  Locus:


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Rho GTPases control a variety of cellular processes. There are 3 subtypes of Rho GTPases in the Ras superfamily of small G proteins: RHO (OMIM 165370), RAC (OMIM 602048), and CDC42 (OMIM 116952). GTPase-activating proteins (GAPs) bind activated forms of Rho GTPases and stimulate GTP hydrolysis. Through this catalytic function, Rho GAPs negatively regulate Rho-mediated signals. GAPs may also serve as effector molecules and play a role in signaling downstream of Rho and other Ras-like GTPases. By screening a Jurkat cDNA library using a yeast 2-hybrid system with an activated form of RAC as bait, followed by screening a placenta cDNA library, Toure et al. (1998) isolated a cDNA encoding RACGAP1, which they called MGCRACGAP. The predicted 527-amino acid RACGAP1 protein has a large N-terminal region containing a protein kinase C-like cysteine-rich motif. The authors determined that RACGAP1 shares highest homology with the Drosophila RnRacGAP and the chimerins of rat and human . Functional analysis showed that the GAP domain of RACGAP1 exhibits strong GAP activity towards CDC42, RAC1, and RAC2 . Northern blot analysis detected an approximately 3.2-kb RACGAP1 transcript that was most abundantly expressed in testis, with low expression in most other tissues.

General function Intracellular signaling cascade
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function Oogenesis
Comment Van de Putte T, et al 2001 reported that Mice with a homozygous gene trap vector insertion in mgcRacGAP die during pre-implantation development. In a phenotypic screen in mice using a gene trap approach in embryonic stem cells, the authors have identified a recessive loss-of-function mutation in the mgcRacGAP gene. Maternal protein is present in the oocyte. and mgcRacGAP gene transcription starts at the four-cell stage and persists throughout mouse pre-implantation development. Total mgcRacGAP deficiency results in pre-implantation lethality. Such E3.5 embryos display a dramatic reduction in cell number, but undergo compaction and form a blastocoel. At E3.0-3.5, binucleated blastomeres in which the nuclei are partially interconnected are frequently observed, suggesting that mgcRacGAP is required for normal mitosis and cytokinesis in the pre-implantation embryo.
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages Preovulatory
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: May 31, 2001, 5:34 p.m. by: hsueh   email:
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last update: Aug. 13, 2001, 3:40 p.m. by: hsueh    email:



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