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)
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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
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P98174.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FGD1
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/7954831