InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGD1

Summary

InnateDB Protein

IDBP-71245.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FGD1

Protein Name

FYVE, RhoGEF and PH domain containing 1

Synonyms

AAS; FGDY; MRXS16; ZFYVE3;

Species

Homo sapiens

Ensembl Protein

ENSP00000364277

InnateDB Gene

IDBG-71243 (FGD1)

Protein Structure

UniProt Annotation

Function

Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. {ECO:0000269PubMed:8969170}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associated with membrane ruffles and lamellipodia. {ECO:0000250}.

Disease Associations

Aarskog-Scott syndrome (AAS) [MIM:305400]: A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity. {ECO:0000269PubMed:10930571, ECO:0000269PubMed:11093277, ECO:0000269PubMed:14560308}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in FGD1 are found in a patient with non- syndromal X-linked mental retardation.

Tissue Specificity

Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000219 Dbl homology (DH) domain
IPR000306 FYVE zinc finger
IPR001849 Pleckstrin homology domain
IPR011011 Zinc finger, FYVE/PHD-type
IPR017455 Zinc finger, FYVE-related

PFAM

PF00621
PF01363
PF00169

PRINTS

PIRSF

SMART

SM00325
SM00064
SM00233

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P98174