FGD1 (gene)

FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)
Identifiers
Symbols	FGD1 ; AAS; FGDY; ZFYVE3
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3282
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
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

FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia), also known as FGD1, is a human gene.

FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. FGD1 has an essential role in embryonic development, and FGD1 gene mutations result in the human developmental disorder, Aarskog-Scott syndrome.

Further reading

• Pasteris NG, Cadle A, Logie LJ; et al. (1994). "Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor". Cell. 79 (4): 669–78. PMID 7954831.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Glover TW, Verga V, Rafael J; et al. (1994). "Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323". Hum. Mol. Genet. 2 (10): 1717–8. PMID 8268928.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zheng Y, Fischer DJ, Santos MF; et al. (1997). "The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor". J. Biol. Chem. 271 (52): 33169–72. PMID 8969170.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olson MF, Pasteris NG, Gorski JL, Hall A (1997). "Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases". Curr. Biol. 6 (12): 1628–33. PMID 8994827.CS1 maint: Multiple names: authors list (link)
• Pasteris NG, Buckler J, Cadle AB, Gorski JL (1997). "Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene". Genomics. 43 (3): 390–4. doi:10.1006/geno.1997.4837. PMID 9268645.CS1 maint: Multiple names: authors list (link)
• Gorski JL, Estrada L, Hu C, Liu Z (2000). "Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome)". Dev. Dyn. 218 (4): 573–86. doi:10.1002/1097-0177(2000)9999:9999<::AID-DVDY1015>3.0.CO;2-F. PMID 10906777.CS1 maint: Multiple names: authors list (link)
• Orrico A, Galli L, Falciani M; et al. (2000). "A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)". FEBS Lett. 478 (3): 216–20. PMID 10930571.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schwartz CE, Gillessen-Kaesbach G, May M; et al. (2000). "Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome". Eur. J. Hum. Genet. 8 (11): 869–74. doi:10.1038/sj.ejhg.5200553. PMID 11093277.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Estrada L, Caron E, Gorski JL (2001). "Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane". Hum. Mol. Genet. 10 (5): 485–95. PMID 11181572.CS1 maint: Multiple names: authors list (link)
• Lebel RR, May M, Pouls S; et al. (2002). "Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene". Clin. Genet. 61 (2): 139–45. PMID 11940089.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Brugnera E, Haney L, Grimsley C; et al. (2002). "Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex". Nat. Cell Biol. 4 (8): 574–82. doi:10.1038/ncb824. PMID 12134158.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zand DJ, Carpentieri D, Huff D; et al. (2004). "Crane-Heise syndrome: a second familial case report with elaboration of phenotype". Am. J. Med. Genet. A. 118 (3): 223–8. doi:10.1002/ajmg.a.10026. PMID 12673651.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hou P, Estrada L, Kinley AW; et al. (2004). "Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape". Hum. Mol. Genet. 12 (16): 1981–93. PMID 12913069.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Orrico A, Galli L, Cavaliere ML; et al. (2004). "Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients". Eur. J. Hum. Genet. 12 (1): 16–23. doi:10.1038/sj.ejhg.5201081. PMID 14560308.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yanagi K, Kaname T, Chinen Y, Naritomi K (2005). "Novel alternative splicing of human faciogenital dysplasia 1 gene". Congenital anomalies. 44 (3): 137–41. doi:10.1111/j.1741-4520.2004.00026.x. PMID 15327482.CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hayakawa M, Kitagawa H, Miyazawa K; et al. (2005). "The FWD1/beta-TrCP-mediated degradation pathway establishes a 'turning off switch' of a Cdc42 guanine nucleotide exchange factor, FGD1". Genes Cells. 10 (3): 241–51. doi:10.1111/j.1365-2443.2005.00834.x. PMID 15743413.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kaname T, Yanagi K, Okamoto N, Naritomi K (2006). "Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations". Am. J. Med. Genet. A. 140 (12): 1331–2. doi:10.1002/ajmg.a.31253. PMID 16688726.CS1 maint: Multiple names: authors list (link)