ARHGEF6

ARHGEF6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1UJY, 1WYR
Identifiers
Aliases	ARHGEF6, COOL2, Cool-2, MRX46, PIXA, alpha-PIX, alphaPIX, Rac/Cdc42 guanine nucleotide exchange factor 6
External IDs	MGI: 1920591 HomoloGene: 3561 GeneCards: ARHGEF6
Gene ontology Molecular function • protein binding • GTPase activator activity • Rho guanyl-nucleotide exchange factor activity • guanyl-nucleotide exchange factor activity Cellular component • cytosol • cell projection • intracellular • lamellipodium Biological process • positive regulation of apoptotic process • JNK cascade • regulation of Rho protein signal transduction • regulation of small GTPase mediated signal transduction • lamellipodium assembly • apoptotic process • positive regulation of GTPase activity Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9459	73341
Ensembl	ENSG00000129675	ENSMUSG00000031133
UniProt	Q15052	Q8K4I3
RefSeq (mRNA)	NM_001306177 NM_004840	NM_152801
RefSeq (protein)	NP_001293106.1 NP_004831.1	NP_690014.2
Location (UCSC)	Chr X: 136.67 – 136.78 Mb	Chr X: 57.23 – 57.34 Mb
PubMed search	[1]	[2]
Wikidata

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Rho guanine nucleotide exchange factor 6 is a protein that, in humans, is encoded by the ARHGEF6 gene.^[3][4][5]

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 catalyse the exchange of GDP for GTP in some Rho-family small GTPases. 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.^[5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S (Dec 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. doi:10.1093/dnares/1.5.251. PMID 7584048.
4. Manser E, Loo TH, Koh CG, Zhao ZS, Chen XQ, Tan L, Tan I, Leung T, Lim L (Jul 1998). "PAK kinases are directly coupled to the PIX family of nucleotide exchange factors". Mol Cell. 1 (2): 183–92. doi:10.1016/S1097-2765(00)80019-2. PMID 9659915.
5. "Entrez Gene: ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6".

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. doi:10.1093/dnares/1.1.27. 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. doi:10.1093/dnares/1.1.47. PMID 7584028.
• 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. doi:10.1126/science.280.5366.1082. PMID 9582122.
• 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. doi:10.1136/jmg.35.10.801. PMC 1051453. 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. PMC 113039. 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. doi:10.1074/jbc.275.29.22373. 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. doi:10.1002/ajmg.1189. 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. PMC 99857. 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. PMC 186329. 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. PMC 139241. 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. doi:10.1093/hmg/ddg019. 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. doi:10.1016/S0014-5793(03)00853-6. 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. PMC 514446. 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.