Gene: FGD1 (FYVE, RhoGEF and PH domain containing 1) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


Disease Annotations
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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on FGD1
Alliance Gene
NCBI 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



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