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RecName: Full=FYVE, RhoGEF and PH domain-containing protein 1; AltName: Full=Faciogenital dysplasia 1 protein; AltName: Full=Rho/Rac guanine nucleotide exchange factor FGD1; Short=Rho/Rac GEF; AltName: Full=Zinc finger FYVE domain-containing protein 3

UniProtKB/Swiss-Prot: P98174.2

Identical Proteins FASTA Graphics 

LOCUS       FGD1_HUMAN               961 aa            linear   PRI 27-NOV-2024
DEFINITION  RecName: Full=FYVE, RhoGEF and PH domain-containing protein 1;
            AltName: Full=Faciogenital dysplasia 1 protein; AltName:
            Full=Rho/Rac guanine nucleotide exchange factor FGD1; Short=Rho/Rac
            GEF; AltName: Full=Zinc finger FYVE domain-containing protein 3.
ACCESSION   P98174
VERSION     P98174.2
DBSOURCE    UniProtKB: locus FGD1_HUMAN, accession P98174;
            class: standard.
            extra accessions:Q5H999,Q8N4D9
            created: Oct 1, 1996.
            sequence updated: Feb 1, 2003.
            annotation updated: Nov 27, 2024.
            xrefs: U11690.1, AAA57004.1, Z85987.13, CH471154.1, EAW93179.1,
            BC034530.1, AAH34530.1, A55380, NP_004454.2
            xrefs (non-sequence databases): CCDS:CCDS14359.1,
            AlphaFoldDB:P98174, SMR:P98174, BioGRID:108536, ELM:P98174,
            IntAct:P98174, STRING:9606.ENSP00000364277, BindingDB:P98174,
            ChEMBL:CHEMBL2862, iPTMnet:P98174, PhosphoSitePlus:P98174,
            BioMuta:FGD1, DMDM:28202247, jPOST:P98174, MassIVE:P98174,
            PaxDb:9606-ENSP00000364277, PeptideAtlas:P98174,
            ProteomicsDB:57809, Pumba:P98174, Antibodypedia:376, DNASU:2245,
            Ensembl:ENST00000375135.4, Ensembl:ENSP00000364277.3,
            Ensembl:ENSG00000102302.8, GeneID:2245, KEGG:hsa:2245,
            MANE-Select:ENST00000375135.4, UCSC:uc004dtg.3, AGR:HGNC:3663,
            CTD:2245, DisGeNET:2245, GeneCards:FGD1, HGNC:3663,
            HPA:ENSG00000102302, MalaCards:FGD1, MIM 300546, MIM 305400,
            neXtProt:NX_P98174, OpenTargets:ENSG00000102302, Orphanet:915,
            PharmGKB:PA28102, VEuPathDB:HostDB:ENSG00000102302, eggNOG:KOG4424,
            GeneTree:ENSGT00940000159438, HOGENOM:CLU_011755_1_1_1,
            InParanoid:P98174, OMA:QQRWMAV, OrthoDB:5385125at2759,
            PhylomeDB:P98174, TreeFam:TF316247, PathwayCommons:P98174,
            Reactome:R-HSA-193648, Reactome:R-HSA-416482,
            Reactome:R-HSA-9013148, SignaLink:P98174, SIGNOR:P98174,
            BioGRID-ORCS:2245, ChiTaRS:FGD1, GeneWiki:FGD1, GenomeRNAi:2245,
            Pharos:P98174, PRO:PR:P98174, Proteomes:UP000005640, RNAct:P98174,
            Bgee:ENSG00000102302, ExpressionAtlas:P98174, GO:0005737,
            GO:0005856, GO:0005829, GO:0005794, GO:0030027, GO:0001726,
            GO:0005085, GO:0046872, GO:0031267, GO:0030036, GO:0009887,
            GO:0007010, GO:0046847, GO:0008360, GO:0043087, GO:0051056,
            GO:0007165, CDD:cd15741, CDD:cd01219, CDD:cd13236, CDD:cd00160,
            FunFam:3.30.40.10:FF:000061, FunFam:2.30.29.30:FF:000279,
            FunFam:1.20.900.10:FF:000013, FunFam:2.30.29.30:FF:000102,
            Gene3D:1.20.900.10, Gene3D:2.30.29.30, Gene3D:3.30.40.10,
            InterPro:IPR035899, InterPro:IPR000219, InterPro:IPR035941,
            InterPro:IPR035939, InterPro:IPR051092, InterPro:IPR011993,
            InterPro:IPR001849, InterPro:IPR000306, InterPro:IPR017455,
            InterPro:IPR013083, PANTHER:PTHR12673, PANTHER:PTHR12673:SF79,
            Pfam:PF01363, Pfam:PF00169, Pfam:PF00621, SMART:SM00064,
            SMART:SM00233, SMART:SM00325, SUPFAM:SSF48065, SUPFAM:SSF50729,
            PROSITE:PS50010, PROSITE:PS50003, PROSITE:PS50178
KEYWORDS    Cell projection; Cytoplasm; Cytoskeleton; Disease variant;
            Guanine-nucleotide releasing factor; Metal-binding; Phosphoprotein;
            Proteomics identification; Reference proteome; Repeat; Zinc;
            Zinc-finger.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 961)
  AUTHORS   Pasteris,N.G., Cadle,A., Logie,L.J., Porteous,M.E., Schwartz,C.E.,
            Stevenson,R.E., Glover,T.W., Wilroy,R.S. and Gorski,J.L.
  TITLE     Isolation and characterization of the faciogenital dysplasia
            (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine
            nucleotide exchange factor
  JOURNAL   Cell 79 (4), 669-678 (1994)
   PUBMED   7954831
  REMARK    NUCLEOTIDE SEQUENCE [MRNA].;
            TISSUE=Craniofacial
REFERENCE   2  (residues 1 to 961)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., 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,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE   3  (residues 1 to 961)
  AUTHORS   Mural,R.J., Istrail,S., Sutton,G.G., Florea,L., Halpern,A.L.,
            Mobarry,C.M., Lippert,R., Walenz,B., Shatkay,H., Dew,I.,
            Miller,J.R., Flanigan,M.J., Edwards,N.J., Bolanos,R., Fasulo,D.,
            Halldorsson,B.V., Hannenhalli,S., Turner,R., Yooseph,S., Lu,F.,
            Nusskern,D.R., Shue,B.C., Zheng,X.H., Zhong,F., Delcher,A.L.,
            Huson,D.H., Kravitz,S.A., Mouchard,L., Reinert,K., Remington,K.A.,
            Clark,A.G., Waterman,M.S., Eichler,E.E., Adams,M.D.,
            Hunkapiller,M.W., Myers,E.W. and Venter,J.C.
  TITLE     Direct Submission
  JOURNAL   Submitted (??-JUL-2005) to the EMBL/GenBank/DDBJ databases
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE   4  (residues 1 to 961)
  AUTHORS   Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
            Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
            Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
            Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
            Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
            Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
            Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
            Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
            Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
            Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
            Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
            Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
            Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
            Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
            Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
            Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
            Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
            Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
            Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
            Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
            Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
            Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
            Makowski,K.A., Bosak,S. and Malek,J.
  CONSRTM   MGC Project Team
  TITLE     The status, quality, and expansion of the NIH full-length cDNA
            project: the Mammalian Gene Collection (MGC)
  JOURNAL   Genome Res 14 (10B), 2121-2127 (2004)
   PUBMED   15489334
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].;
            TISSUE=Brain
            Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
            Morin, Ryan]]
REFERENCE   5  (residues 1 to 961)
  AUTHORS   Zheng,Y., Fischer,D.J., Santos,M.F., Tigyi,G., Pasteris,N.G.,
            Gorski,J.L. and Xu,Y.
  TITLE     The faciogenital dysplasia gene product FGD1 functions as a
            Cdc42Hs-specific guanine-nucleotide exchange factor
  JOURNAL   J Biol Chem 271 (52), 33169-33172 (1996)
   PUBMED   8969170
  REMARK    FUNCTION.
REFERENCE   6  (residues 1 to 961)
  AUTHORS   Dephoure,N., Zhou,C., Villen,J., Beausoleil,S.A., Bakalarski,C.E.,
            Elledge,S.J. and Gygi,S.P.
  TITLE     A quantitative atlas of mitotic phosphorylation
  JOURNAL   Proc Natl Acad Sci U S A 105 (31), 10762-10767 (2008)
   PUBMED   18669648
  REMARK    PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-48; SER-205; THR-711
            AND SER-715, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
            ANALYSIS].;
            TISSUE=Cervix carcinoma
REFERENCE   7  (residues 1 to 961)
  AUTHORS   Olsen,J.V., Vermeulen,M., Santamaria,A., Kumar,C., Miller,M.L.,
            Jensen,L.J., Gnad,F., Cox,J., Jensen,T.S., Nigg,E.A., Brunak,S. and
            Mann,M.
  TITLE     Quantitative phosphoproteomics reveals widespread full
            phosphorylation site occupancy during mitosis
  JOURNAL   Sci Signal 3 (104), ra3 (2010)
   PUBMED   20068231
  REMARK    IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].;
            TISSUE=Cervix carcinoma
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 961)
  AUTHORS   Zhou,H., Di Palma,S., Preisinger,C., Peng,M., Polat,A.N., Heck,A.J.
            and Mohammed,S.
  TITLE     Toward a comprehensive characterization of a human cancer cell
            phosphoproteome
  JOURNAL   J Proteome Res 12 (1), 260-271 (2013)
   PUBMED   23186163
  REMARK    IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].;
            TISSUE=Cervix carcinoma
REFERENCE   9  (residues 1 to 961)
  AUTHORS   Schwartz,C.E., Gillessen-Kaesbach,G., May,M., Cappa,M., Gorski,J.,
            Steindl,K. and Neri,G.
  TITLE     Two novel mutations confirm FGD1 is responsible for the Aarskog
            syndrome
  JOURNAL   Eur J Hum Genet 8 (11), 869-874 (2000)
   PUBMED   11093277
  REMARK    VARIANT AAS HIS-522.
REFERENCE   10 (residues 1 to 961)
  AUTHORS   Orrico,A., Galli,L., Falciani,M., Bracci,M., Cavaliere,M.L.,
            Rinaldi,M.M., Musacchio,A. and Sorrentino,V.
  TITLE     A mutation in the pleckstrin homology (PH) domain of the FGD1 gene
            in an Italian family with faciogenital dysplasia (Aarskog-Scott
            syndrome)
  JOURNAL   FEBS Lett 478 (3), 216-220 (2000)
   PUBMED   10930571
  REMARK    VARIANT AAS GLN-610.
REFERENCE   11 (residues 1 to 961)
  AUTHORS   Lebel,R.R., May,M., Pouls,S., Lubs,H.A., Stevenson,R.E. and
            Schwartz,C.E.
  TITLE     Non-syndromic X-linked mental retardation associated with a
            missense mutation (P312L) in the FGD1 gene
  JOURNAL   Clin Genet 61 (2), 139-145 (2002)
   PUBMED   11940089
  REMARK    VARIANT LEU-312.
REFERENCE   12 (residues 1 to 961)
  AUTHORS   Orrico,A., Galli,L., Cavaliere,M.L., Garavelli,L., Fryns,J.P.,
            Crushell,E., Rinaldi,M.M., Medeira,A. and Sorrentino,V.
  TITLE     Phenotypic and molecular characterisation of the Aarskog-Scott
            syndrome: a survey of the clinical variability in light of FGD1
            mutation analysis in 46 patients
  JOURNAL   Eur J Hum Genet 12 (1), 16-23 (2004)
   PUBMED   14560308
  REMARK    VARIANTS AAS ILE-205; ALA-380 AND HIS-443.
COMMENT     On or before Sep 26, 2008 this sequence version replaced
            gi:74755411, gi:1082360, gi:1706789.
            [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.
            {ECO:0000269|PubMed:8969170}.
            [SUBUNIT] Interacts with DBNL/ABP1 and CTTN. May interact with
            CCPG1 (By similarity). Binds CDC42. {ECO:0000250}.
            [SUBCELLULAR LOCATION] Cytoplasm {ECO:0000250}. Cell projection,
            lamellipodium {ECO:0000250}. Cell projection, ruffle {ECO:0000250}.
            Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associated with
            membrane ruffles and lamellipodia. {ECO:0000250}.
            [TISSUE SPECIFICITY] Expressed in fetal heart, brain, lung, kidney
            and placenta. Less expressed in liver; adult heart, brain, lung,
            pancreas and skeletal muscle.
            [DOMAIN] The DH domain is involved in interaction with CCPG1.
            {ECO:0000250}.
            [DISEASE] Aarskog-Scott syndrome (AAS) [MIM:305400]: An X-linked
            recessive, rare multisystemic disorder characterized by
            disproportionately short stature, and by facial, skeletal and
            urogenital anomalies. Some patients manifest intellectual
            disability, attention deficit disorder and hyperactivity.
            {ECO:0000269|PubMed:10930571, ECO:0000269|PubMed:11093277,
            ECO:0000269|PubMed:14560308}. Note=The disease is caused by
            variants affecting the gene represented in this entry.
FEATURES             Location/Qualifiers
     source          1..961
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     gene            1..961
                     /gene="FGD1"
                     /gene_synonym="FGDY"
                     /gene_synonym="ZFYVE3"
     Protein         1..961
                     /product="FYVE, RhoGEF and PH domain-containing protein 1"
                     /note="Faciogenital dysplasia 1 protein; Rho/Rac guanine
                     nucleotide exchange factor FGD1; Zinc finger FYVE
                     domain-containing protein 3; Rho/Rac GEF"
                     /UniProtKB_evidence="Evidence at protein level"
     Region          1..961
                     /region_name="Mature chain"
                     /note="FYVE, RhoGEF and PH domain-containing protein 1.
                     /id=PRO_0000080940."
     Region          1..353
                     /region_name="Region of interest in the sequence"
                     /note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          10..23
                     /region_name="Conflict"
                     /note="AGPSEPEHPATNPP -> RRAFGARTPGHEPA (in Ref. 1).
                     /evidence=ECO:0000305."
     Site            48
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648."
     Region          <50..332
                     /region_name="PHA03247"
                     /note="large tegument protein UL36; Provisional"
                     /db_xref="CDD:223021"
     Region          141..190
                     /region_name="Compositionally biased region"
                     /note="Pro residues.
                     /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          171..187
                     /region_name="Short sequence motif of biological interest"
                     /note="SH3-binding. /evidence=ECO:0000255."
     Region          195
                     /region_name="Conflict"
                     /note="A -> G (in Ref. 1; AAA57004).
                     /evidence=ECO:0000305."
     Region          205
                     /region_name="Variant"
                     /note="S -> I (in AAS).
                     /evidence=ECO:0000269|PubMed:14560308. /id=VAR_019268."
     Site            205
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648."
     Region          229..254
                     /region_name="Compositionally biased region"
                     /note="Pro residues.
                     /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          283..300
                     /region_name="Compositionally biased region"
                     /note="Polar residues.
                     /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          312
                     /region_name="Variant"
                     /note="P -> L (in dbSNP:rs28935498).
                     /evidence=ECO:0000269|PubMed:11940089. /id=VAR_019269."
     Region          336..352
                     /region_name="Compositionally biased region"
                     /note="Acidic residues.
                     /evidence=ECO:0000256|SAM:MobiDB-lite."
     Region          373..561
                     /region_name="Domain"
                     /note="DH.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00062."
     Region          376..559
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(380,384,482,510..511,514..515,517..518,521..522,
                     525..526,529,555,559)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          380
                     /region_name="Variant"
                     /note="E -> A (in AAS).
                     /evidence=ECO:0000269|PubMed:14560308. /id=VAR_019270."
     Region          443
                     /region_name="Variant"
                     /note="R -> H (in AAS; dbSNP:rs137853266).
                     /evidence=ECO:0000269|PubMed:14560308. /id=VAR_019271."
     Region          522
                     /region_name="Variant"
                     /note="R -> H (in AAS; dbSNP:rs137853264).
                     /evidence=ECO:0000269|PubMed:11093277. /id=VAR_015236."
     Region          590..689
                     /region_name="Domain"
                     /note="PH 1.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00145."
     Region          591..698
                     /region_name="PH1_FGD1"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia protein 1, N-terminal Pleckstrin homology (PH)
                     domain; cd01219"
                     /db_xref="CDD:275392"
     Region          610
                     /region_name="Variant"
                     /note="R -> Q (in AAS; dbSNP:rs28935497).
                     /evidence=ECO:0000269|PubMed:10930571. /id=VAR_015237."
     Region          702..726
                     /region_name="Region of interest in the sequence"
                     /note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
     Site            711
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648."
     Site            715
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648."
     Region          725..789
                     /region_name="FYVE_FGD1_2_4"
                     /note="FYVE domain found in FYVE, RhoGEF and PH
                     domain-containing protein facio-genital dysplasia FGD1,
                     FGD2, FGD4; cd15741"
                     /db_xref="CDD:277280"
     Site            order(727,730,749..754,756..757,780..782)
                     /site_type="other"
                     /note="putative phosphatidylinositol 3-phosphate binding
                     site [chemical binding]"
                     /db_xref="CDD:277280"
     Region          730..790
                     /region_name="Zinc finger region"
                     /note="FYVE-type.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00091."
     Region          815..920
                     /region_name="PH2_FGD1-4"
                     /note="FYVE, RhoGEF and PH domain containing/faciogenital
                     dysplasia proteins pleckstrin homology (PH) domain,
                     C-terminus; cd13236"
                     /db_xref="CDD:270056"
     Region          821..921
                     /region_name="Domain"
                     /note="PH 2.
                     /evidence=ECO:0000255|PROSITE-ProRule:PRU00145."
     Region          925..961
                     /region_name="Region of interest in the sequence"
                     /note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
ORIGIN      
        1 mhghrapgga gpsepehpat nppgaappac adsdpgasep gllarrgsgs alggpldpqf
       61 vgpsdtslga apghrvlpcg pspqhhralr fsyhlegsqp rpglhqgnri lvkslsldpg
      121 qslephpegp qrlrsdpgpp tetpsqrpsp lkrapgpkpq vppkpsylqm prmppplepi
      181 ppppsrplpa dprvakglap raeaspssaa vssliekfer epvivasdrp vpgpspgppe
      241 pvmlpqptsq ppvpqlpege asrclfllap gprdgekvpn rdsgidsiss psnseetcfv
      301 sddgppshsl cpgppalasv pvaladphrp gsqevdsdle eeddeeeeee kdreipvplm
      361 erqesveltv qqkvfhiane llqtekayvs rlhlldqvfc arlleearnr ssfpadvvhg
      421 ifsnicsiyc fhqqfllpel ekrmeewdry prigdilqkl apflkmygey vknfdravel
      481 vntwterstq fkviihevqk eeacgnltlq hhmlepvqri pryelllkdy llklphgspd
      541 skdaqkslel iataaehsna airkmermhk llkvyellgg eedivsptke likeghilkl
      601 sakngttqdr ylilfndrll ycvprlrllg qkfsvrarid vdgmelkess nlnlprtflv
      661 sgkqrslelq arteeekkdw vqainstllk heqtletfkl lnstnreded tppnspnvdl
      721 gkraptpire kevtmcmrcq epfnsitkrr hhckacghvv cgkcsefrar lvydnnrsnr
      781 vctdcyvalh gvpgsspacs qhtpqrrrsi lekqasvaae nsvicsflhy mekggkgwhk
      841 awfvvpenep lvlyiygapq dvkaqrslpl igfevgppea gerpdrrhvf kitqshlswy
      901 fspeteelqr rwmavlgrag rgdtfcpgpt lsedremeea pvaalgatae ppespqtrdk
      961 t
//
Feature
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Reference sequence information

  • RefSeq genomic sequence
    See the genomic reference sequence for the FGD1 gene (NG_008054.1).
  • RefSeq protein
    See the reference protein sequence for FYVE, RhoGEF and PH domain-containing protein 1 (NP_004454.2).

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