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FYVE, RhoGEF & PH domain-containing protein 1; faciogenital dysplasia 1 protein; zinc finger FYVE domain-containing protein 3; Rho/Rac guanine nucleotide exchange factor FGD1; Rho/Rac GEF (FGD1, FGDY, ZFYVE3)

Function: - activates CDC42, a member of the Ras-like family of Rho- & Rac proteins, by exchanging bound GDP for free GTP - plays a role in regulating the actin cytoskeleton & cell shape - interacts with DBNL/ABP1 & CTTN - may interact with CCPG1 - binds CDC42 Structure: - the DH domain is involved in interaction with CCPG1 - contains 1 DH (DBL-homology) domain - contains 1 FYVE-type Zn+2 finger - contains 2 PH domains Compartment: - cytoplasm (putative) - cell projection, lamellipodium (putative) - cell projection, ruffle - cytoplasm, cytoskeleton (putative) - associated with membrane ruffles & lamellipodia Expression: - expressed in fetal heart, brain, lung, kidney & placenta - less expressed in liver; adult heart, brain, lung, pancreas & skeletal muscle Pathology: - defects in FGD1 are the cause of Aarskog-Scott syndrome - defects in FGD1 are a cause of non-syndromal X-linked mental retardation

General

guanine nucleotide exchange factor (GDP/GTP dissociation stimulator, guanine nucleotide-releasing factor/protein, GNEF, GNDS, GDS) phosphoprotein zinc finger protein

Properties

SIZE: entity length = 961 aa MW = 107 kD COMPARTMENT: cytoplasm MOTIF: proline-rich region SITE: 7-330 MOTIF: proline residue (SEVERAL) Ser phosphorylation site {S48} SH3-binding site NAME: SH3-binding site SITE: 171-179 SH3-binding site NAME: SH3-binding site SITE: 179-187 Ser phosphorylation site {S205} Dbl homology domain {373-561} PH domain {590-689} Thr phosphorylation site {T704} Thr phosphorylation site {T711} Ser phosphorylation site {S715} Zn finger Fyve-type SITE: 730-790 EFFECTOR-BOUND: Zn+2 PH domain {821-921}

Database Correlations

OMIM correlations MORBIDMAP 300546 UniProt P98174 PFAM correlations Entrez Gene 2245 Kegg hsa:2245

References

  1. UniProt :accession P98174
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FGD1
  3. Pasteris NG et al Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669-678 1994 PMID: 7954831