ARHGEF6

From Wikipedia, the free encyclopedia

Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6

PDB rendering based on 1ujy.

Available structures: 1ujy, 1wyr

Identifiers

Symbol(s)

ARHGEF6; COOL2; Cool-2; KIAA0006; MRX46; PIXA; alpha-PIX; alphaPIX

External IDs

OMIM: 300267 MGI: 1920591 HomoloGene: 3561

Gene ontology
Molecular Function:	• guanyl-nucleotide exchange factor activity • Rho guanyl-nucleotide exchange factor activity • GTPase activator activity
Cellular Component:	• intracellular
Biological Process:	• apoptosis • JNK cascade • regulation of Rho protein signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004840 (mRNA)
NP_004831 (protein)

NM_152801 (mRNA)
NP_690014 (protein)

Location

Chr X: 135.58 - 135.69 Mb

Chr X: 53.58 - 53.69 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6.

[edit] 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.