Entity Details

Primary name FGD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP98174
EntryNameFGD1_HUMAN
FullNameFYVE, RhoGEF and PH domain-containing protein 1
TaxID9606
Evidenceevidence at protein level
Length961
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesFGD1

GO terms

Show/Hide Table
GOName
GO:0001726 ruffle
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0007010 cytoskeleton organization
GO:0007165 signal transduction
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0008360 regulation of cell shape
GO:0009887 animal organ morphogenesis
GO:0030027 lamellipodium
GO:0030036 actin cytoskeleton organization
GO:0031267 small GTPase binding
GO:0043065 positive regulation of apoptotic process
GO:0043087 regulation of GTPase activity
GO:0046847 filopodium assembly
GO:0046872 metal ion binding
GO:0051056 regulation of small GTPase mediated signal transduction

Subcellular Location

Show/Hide Table
Subcellular Location
Cell projection
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR000219 Dbl homology (DH) domainDomainDomain
IPR000306 FYVE zinc fingerDomainDomain
IPR001849 Pleckstrin homology domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR013083 Zinc finger, RING/FYVE/PHD-typeFamilyHomologous superfamily
IPR017455 Zinc finger, FYVE-relatedDomainDomain
IPR035899 Dbl homology (DH) domain superfamilyFamilyHomologous superfamily
IPR035939 FGD1, N-terminal PH domainDomainDomain
IPR035941 FGD1-4, C-terminal PH domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
305400 OMIMAarskog-Scott syndrome (AAS)An X-linked recessive, 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. The disease is caused by variants affecting the gene represented in this entry.