FGD1 (gene)

From Wikipedia, the free encyclopedia

FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)

Identifiers

FGD1; AAS; FGDY; ZFYVE3

External IDs

OMIM: 305400 MGI: 104566 HomoloGene: 3282

Gene ontology
Molecular Function:	• guanyl-nucleotide exchange factor activity • Rho guanyl-nucleotide exchange factor activity • protein binding • zinc ion binding • small GTPase binding • metal ion binding
Cellular Component:	• ruffle • intracellular • cytoplasm • Golgi apparatus • cytoskeleton • lamellipodium
Biological Process:	• cytoskeleton organization and biogenesis • signal transduction • multicellular organismal development • regulation of cell shape • organ morphogenesis • actin cytoskeleton organization and biogenesis • regulation of Rho protein signal transduction • regulation of Cdc42 GTPase activity • filopodium formation

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004463 (mRNA)
NP_004454 (protein)

NM_008001 (mRNA)
NP_032027 (protein)

Location

Chr X: 54.49 - 54.54 Mb

Chr X: 146.39 - 146.43 Mb

Pubmed search

[1]

[2]

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

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: FGD1 FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.