Homo sapiens Gene: FGD1
Summary
InnateDB Gene IDBG-71243.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FGD1
Gene Name FYVE, RhoGEF and PH domain containing 1
Synonyms AAS; FGDY; MRXS16; ZFYVE3
Species Homo sapiens
Ensembl Gene ENSG00000102302
Encoded Proteins
FYVE, RhoGEF and PH domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 faciogenital dysplasia and X-linked mental retardation, syndromatic 16.[provided by RefSeq, Mar 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome X:54445454-54496166
Strand Reverse strand
Band p11.22
Transcripts
ENST00000375135 ENSP00000364277
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0031267 small GTPase binding
GO:0046872 metal ion binding
Biological Process
GO:0007010 cytoskeleton organization
GO:0007165 signal transduction
GO:0007264 small GTPase mediated signal transduction
GO:0007275 multicellular organismal development
GO:0008360 regulation of cell shape
GO:0009887 organ morphogenesis
GO:0030036 actin cytoskeleton organization
GO:0032321 positive regulation of Rho GTPase activity
GO:0035023 regulation of Rho protein signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0043088 regulation of Cdc42 GTPase activity
GO:0043547 positive regulation of GTPase activity
GO:0046847 filopodium assembly
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0030027 lamellipodium
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
NRAGE signals death through JNK pathway
G alpha (12/13) signalling events pathway
Rho GTPase cycle pathway
Signalling by NGF pathway
Signaling by Rho GTPases pathway
Signaling by GPCR pathway
p75 NTR receptor-mediated signalling pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Cell death signalling via NRAGE, NRIF and NADE pathway
KEGG
Regulation of actin cytoskeleton pathway
INOH
PID NCI
Regulation of CDC42 activity
Cross-References
SwissProt P98174
TrEMBL A0A024R9Y5
UniProt Splice Variant
Entrez Gene 2245
UniGene Hs.709201 Hs.737193
RefSeq NM_004463
HUGO HGNC:3663
OMIM 300546
CCDS CCDS14359
HPRD
IMGT
EMBL BC034530 CH471154 U11690 Z85987
GenPept AAA57004 AAH34530 CAI42222 EAW93179 EAW93180 EAW93181
RNA Seq Atlas 2245