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
//