Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP08390
Secondary Accession Numbers
  • 14102
Name FYVE, RhoGEF and PH domain-containing protein 1
Synonyms
  1. Faciogenital dysplasia 1 protein
  2. Rho/Rac GEF
  3. Rho/Rac guanine nucleotide exchange factor FGD1
  4. Zinc finger FYVE domain-containing protein 3
Gene Name FGD1
Protein Type Unknown
Biological Properties
General Function Involved in Rho guanyl-nucleotide exchange factor activity
Specific Function Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape
Pathways Not Available
Reactions Not Available
GO Classification
Component
cell part
intracellular
Function
small gtpase regulator activity
ion binding
cation binding
metal ion binding
binding
ras guanyl-nucleotide exchange factor activity
rho guanyl-nucleotide exchange factor activity
transition metal ion binding
zinc ion binding
enzyme regulator activity
nucleoside-triphosphatase regulator activity
gtpase regulator activity
Process
regulation of ras protein signal transduction
regulation of rho protein signal transduction
biological regulation
regulation of biological process
regulation of cellular process
regulation of cell communication
regulation of signal transduction
regulation of small gtpase mediated signal transduction
Cellular Location
  1. Cytoplasm
  2. Cytoplasm
  3. cytoskeleton
  4. Cell projection
  5. Cell projection
  6. lamellipodium
  7. ruffle
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs FGD1
Gene Sequence
>2886 bp
ATGCATGGCCACCGAGCCCCGGGGGGCGCCGGGCCTTCGGAGCCCGAACACCCGGCCACG
AACCCGCCGGGCGCCGCTCCGCCGGCCTGTGCCGACTCGGACCCTGGAGCCTCGGAACCC
GGACTGCTGGCGCGCAGGGGCTCAGGTTCGGCTCTTGGCGGCCCACTGGATCCCCAGTTT
GTCGGACCCTCGGACACCAGCCTGGGCGCTGCTCCAGGCCACCGGGTCTTGCCCTGCGGT
CCCAGTCCACAGCACCACCGGGCCCTGCGCTTCTCTTACCACCTGGAGGGCTCGCAGCCT
CGGCCTGGGCTGCACCAGGGAAACCGGATCCTGGTTAAAAGTTTGTCCCTTGACCCTGGC
CAAAGCCTAGAGCCTCATCCAGAAGGTCCCCAGCGGCTTCGCTCAGACCCAGGTCCCCCG
ACTGAAACCCCTAGCCAGCGTCCTTCACCACTGAAGCGGGCACCGGGCCCGAAGCCACAG
GTGCCCCCAAAGCCCAGCTACCTGCAGATGCCCCGGATGCCCCCCCCACTGGAGCCCATC
CCCCCTCCACCATCACGCCCACTGCCTGCCGACCCCCGAGTGGCCAAGGGCCTGGCTCCC
AGGGCAGAGGCCAGCCCCAGTTCTGCAGCAGTATCCTCACTGATTGAGAAGTTTGAAAGA
GAGCCTGTGATTGTCGCCTCGGATAGACCAGTCCCTGGCCCCAGCCCAGGTCCCCCAGAG
CCAGTCATGTTGCCACAGCCAACCTCGCAGCCACCAGTGCCCCAGCTCCCCGAGGGTGAG
GCCTCCCGCTGCCTGTTTCTGCTGGCTCCTGGGCCCCGGGACGGTGAGAAGGTGCCCAAC
CGGGACAGCGGCATTGATAGCATCAGCTCGCCATCCAACAGCGAGGAGACCTGCTTCGTC
AGTGATGACGGGCCCCCCAGCCACAGCCTCTGCCCTGGGCCCCCTGCCCTGGCTAGTGTG
CCTGTTGCCTTGGCCGACCCCCACCGGCCTGGCTCCCAAGAGGTTGACAGTGACCTGGAG
GAGGAGGACGACGAGGAGGAGGAGGAAGAGAAGGACAGAGAAATCCCAGTGCCCCTGATG
GAGAGACAGGAGTCTGTGGAGTTGACTGTGCAGCAAAAGGTGTTTCACATTGCCAATGAG
CTCCTGCAAACTGAGAAGGCCTACGTTTCCAGGCTCCATCTCCTGGATCAGGTGTTCTGT
GCCCGGCTGCTGGAAGAAGCTCGGAACCGCAGTTCCTTCCCGGCCGACGTTGTCCACGGC
ATCTTCTCTAACATCTGCTCCATCTATTGCTTCCACCAGCAGTTCCTGCTGCCTGAGCTA
GAGAAGCGCATGGAGGAATGGGACCGCTATCCACGCATTGGAGACATCCTGCAGAAACTG
GCCCCCTTCCTCAAGATGTATGGTGAGTATGTGAAGAACTTTGACCGGGCCGTGGAGCTG
GTCAACACCTGGACAGAGCGCTCCACCCAGTTTAAAGTCATCATCCATGAGGTGCAGAAG
GAGGAAGCCTGTGGCAACCTGACATTGCAGCACCACATGCTGGAGCCTGTGCAGCGCATC
CCCCGCTATGAGCTTCTTCTCAAGGACTATCTGTTAAAGCTGCCCCATGGCTCCCCGGAC
AGCAAGGATGCCCAAAAGTCTCTGGAGCTGATCGCCACAGCAGCAGAGCACTCGAATGCT
GCCATCCGCAAAATGGAGCGAATGCATAAGCTGCTGAAGGTATATGAGCTGTTAGGGGGC
GAGGAGGACATTGTCAGCCCCACCAAAGAGCTCATAAAAGAAGGCCACATCCTTAAGCTG
TCAGCAAAGAATGGGACCACTCAAGACCGATACCTCATACTATTCAACGACCGCCTCCTT
TACTGCGTGCCCAGGCTGCGGCTCCTTGGCCAGAAGTTTAGCGTGCGGGCACGCATTGAT
GTAGATGGCATGGAGCTAAAGGAGAGCTCCAACCTCAATCTGCCTCGAACCTTCCTGGTG
TCAGGAAAGCAGCGCTCCCTCGAGCTCCAGGCCAGGACTGAGGAGGAGAAGAAAGACTGG
GTCCAGGCCATCAACTCCACCCTCCTGAAGCATGAACAGACGCTGGAGACTTTCAAACTG
TTGAACTCAACAAACAGGGAAGATGAAGACACCCCACCCAACTCTCCAAACGTGGATCTT
GGGAAGCGGGCACCTACGCCCATCCGGGAAAAGGAAGTCACCATGTGCATGCGCTGCCAG
GAGCCCTTCAATTCTATCACCAAACGCAGGCACCACTGCAAGGCCTGCGGGCATGTGGTT
TGTGGGAAGTGCTCCGAGTTCCGGGCCCGCCTCGTCTATGACAACAACCGCTCCAACCGT
GTGTGCACTGATTGCTATGTGGCCTTGCACGGGGTGCCTGGGAGCAGTCCAGCCTGCAGC
CAGCATACACCCCAGCGCCGGAGGTCCATCCTGGAGAAACAGGCCTCAGTGGCTGCAGAG
AACAGCGTCATCTGCAGCTTCCTGCACTACATGGAGAAGGGTGGCAAAGGATGGCACAAG
GCATGGTTCGTGGTCCCTGAAAATGAACCCTTGGTGCTGTATATCTACGGAGCCCCTCAG
GATGTGAAAGCCCAGCGCAGCCTGCCCCTCATTGGCTTCGAGGTGGGACCGCCCGAGGCA
GGGGAGCGGCCTGACAGAAGGCATGTCTTCAAGATCACCCAGAGCCACCTCAGCTGGTAC
TTCAGCCCTGAGACAGAGGAACTACAGCGACGCTGGATGGCTGTGCTTGGCCGGGCGGGC
CGAGGGGACACGTTCTGCCCGGGGCCCACACTGTCTGAGGACAGGGAGATGGAGGAGGCA
CCGGTGGCTGCTTTAGGAGCCACTGCTGAACCCCCCGAATCCCCCCAGACCCGAGACAAG
ACCTAG
Protein Properties
Number of Residues 961
Molecular Weight 106559.9
Theoretical pI 6.56
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>FYVE, RhoGEF and PH domain-containing protein 1
MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQF
VGPSDTSLGAAPGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPG
QSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPI
PPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKFEREPVIVASDRPVPGPSPGPPE
PVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFV
SDDGPPSHSLCPGPPALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLM
ERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG
IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVEL
VNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPD
SKDAQKSLELIATAAEHSNAAIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKL
SAKNGTTQDRYLILFNDRLLYCVPRLRLLGQKFSVRARIDVDGMELKESSNLNLPRTFLV
SGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDL
GKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNR
VCTDCYVALHGVPGSSPACSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHK
AWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWY
FSPETEELQRRWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDK
T
GenBank ID Protein 21961608
UniProtKB/Swiss-Prot ID P98174
UniProtKB/Swiss-Prot Entry Name FGD1_HUMAN
PDB IDs Not Available
GenBank Gene ID BC034530
GeneCard ID FGD1
GenAtlas ID FGD1
HGNC ID HGNC:3663
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
  3. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [PubMed:15772651 ]
  4. Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL: Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell. 1994 Nov 18;79(4):669-78. [PubMed:7954831 ]
  5. Zheng Y, Fischer DJ, Santos MF, Tigyi G, Pasteris NG, Gorski JL, Xu Y: The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. J Biol Chem. 1996 Dec 27;271(52):33169-72. [PubMed:8969170 ]
  6. Schwartz CE, Gillessen-Kaesbach G, May M, Cappa M, Gorski J, Steindl K, Neri G: Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur J Hum Genet. 2000 Nov;8(11):869-74. [PubMed:11093277 ]
  7. Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V: A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). FEBS Lett. 2000 Aug 4;478(3):216-20. [PubMed:10930571 ]
  8. Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE: Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet. 2002 Feb;61(2):139-45. [PubMed:11940089 ]
  9. Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V: 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. 2004 Jan;12(1):16-23. [PubMed:14560308 ]