ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDB rendering based on 1ujy. | |||||||||||||
| |||||||||||||
Identifiers | |||||||||||||
Symbols | ARHGEF6 ; COOL2; Cool-2; KIAA0006; MRX46; PIXA; alpha-PIX; alphaPIX | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 3561 | ||||||||||||
| |||||||||||||
RNA expression pattern | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6, also known as ARHGEF6, is a human gene.[1]
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 belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation.[1]
References
Further reading
- Nomura N, Miyajima N, Sazuka T; et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Res. 1 (1): 27–35. PMID 7584026.
- Nomura N, Miyajima N, Sazuka T; et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement)". DNA Res. 1 (1): 47–56. PMID 7584028.
- Nomura N, Nagase T, Miyajima N; et al. (1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1 (supplement)". DNA Res. 1 (5): 251–62. PMID 7584048.
- Ebinu JO, Bottorff DA, Chan EY; et al. (1998). "RasGRP, a Ras guanyl nucleotide- releasing protein with calcium- and diacylglycerol-binding motifs". Science. 280 (5366): 1082–6. PMID 9582122.
- Manser E, Loo TH, Koh CG; et al. (1998). "PAK kinases are directly coupled to the PIX family of nucleotide exchange factors". Mol. Cell. 1 (2): 183–92. PMID 9659915.
- Yntema HG, Hamel BC, Smits AP; et al. (1999). "Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26". J. Med. Genet. 35 (10): 801–5. PMID 9783701.
- Yoshii S, Tanaka M, Otsuki Y; et al. (1999). "alphaPIX nucleotide exchange factor is activated by interaction with phosphatidylinositol 3-kinase". Oncogene. 18 (41): 5680–90. doi:10.1038/sj.onc.1202936. PMID 10523848.
- Brown A, Wang X, Sawai E, Cheng-Mayer C (1999). "Activation of the PAK-related kinase by human immunodeficiency virus type 1 Nef in primary human peripheral blood lymphocytes and macrophages leads to phosphorylation of a PIX-p95 complex". J. Virol. 73 (12): 9899–907. PMID 10559302.
- Premont RT, Claing A, Vitale N; et al. (2000). "The GIT family of ADP-ribosylation factor GTPase-activating proteins. Functional diversity of GIT2 through alternative splicing". J. Biol. Chem. 275 (29): 22373–80. PMID 10896954.
- Kutsche K, Yntema H, Brandt A; et al. (2000). "Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation". Nat. Genet. 26 (2): 247–50. doi:10.1038/80002. PMID 11017088.
- Lower KM, Gecz J (2001). "Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27". Am. J. Med. Genet. 100 (1): 43–8. PMID 11337747.
- Yoshii S, Tanaka M, Otsuki Y; et al. (2001). "Involvement of alpha-PAK-interacting exchange factor in the PAK1-c-Jun NH(2)-terminal kinase 1 activation and apoptosis induced by benzo[a]pyrene". Mol. Cell. Biol. 21 (20): 6796–807. doi:10.1128/MCB.21.20.6796-6807.2001. PMID 11564864.
- Vikis HG, Li W, Guan KL (2002). "The plexin-B1/Rac interaction inhibits PAK activation and enhances Sema4D ligand binding". Genes Dev. 16 (7): 836–45. doi:10.1101/gad.966402. PMID 11937491.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Rosenberger G, Jantke I, Gal A, Kutsche K (2003). "Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling". Hum. Mol. Genet. 12 (2): 155–67. PMID 12499396.
- Flanders JA, Feng Q, Bagrodia S; et al. (2003). "The Cbl proteins are binding partners for the Cool/Pix family of p21-activated kinase-binding proteins". FEBS Lett. 550 (1–3): 119–23. PMID 12935897.
- Brill LM, Salomon AR, Ficarro SB; et al. (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. doi:10.1021/ac035352d. PMID 15144186.
- Djordjevic T, Hess J, Herkert O; et al. (2005). "Rac regulates thrombin-induced tissue factor expression in pulmonary artery smooth muscle cells involving the nuclear factor-kappaB pathway". Antioxid. Redox Signal. 6 (4): 713–20. doi:10.1089/1523086041361703. PMID 15242552.
- Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935.
- Jin J, Smith FD, Stark C; et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
This protein-related article is a stub. You can help Wikipedia by expanding it. |