Gene: FGD1 (FYVE, RhoGEF and PH domain containing 1) Homo sapiens
Symbol: FGD1
Name: FYVE, RhoGEF and PH domain containing 1
Description: This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAS; faciogenital dysplasia 1 protein; FGDY; FYVE, RhoGEF and PH domain-containing protein 1; MRXS16; rho/Rac GEF; rho/Rac guanine nucleotide exchange factor FGD1; ZFYVE3; zinc finger FYVE domain-containing protein 3
Mus musculus (house mouse) : Fgd1 (FYVE, RhoGEF and PH domain containing 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fgd1 (FYVE, RhoGEF and PH domain containing 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fgd1 (FYVE, RhoGEF and PH domain containing 1)
Pan paniscus (bonobo/pygmy chimpanzee) : FGD1 (FYVE, RhoGEF and PH domain containing 1)
Canis lupus familiaris (dog) : FGD1 (FYVE, RhoGEF and PH domain containing 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fgd1 (FYVE, RhoGEF and PH domain containing 1)
Sus scrofa (pig) : FGD1 (FYVE, RhoGEF and PH domain containing 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X54,445,454 - 54,496,166 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,471,887 - 54,522,599 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,488,612 - 54,539,324 (-)NCBINCBI36hg18NCBI36
Build 34X54,354,909 - 54,405,620NCBI
CeleraX58,304,448 - 58,355,160 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX51,522,464 - 51,572,796 (-)NCBIHuRef
CHM1_1X54,462,541 - 54,513,238 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on FGD1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351228
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-04-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.