InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FGD4

Summary

InnateDB Protein

IDBP-371544.4

Last Modified

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

Gene Symbol

FGD4

Protein Name

FYVE, RhoGEF and PH domain containing 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000394487

InnateDB Gene

IDBG-26267 (FGD4)

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. Activates MAPK8 (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). {ECO:0000250}.

Disease Associations

Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269PubMed:17564959, ECO:0000269PubMed:17564972}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis. {ECO:0000269PubMed:17564959}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0031267	small GTPase binding
GO:0046872	metal ion binding

Biological Process

GO:0007010	cytoskeleton organization
GO:0007264	small GTPase mediated signal transduction
GO:0008360	regulation of cell shape
GO:0030032	lamellipodium assembly
GO:0030035	microspike assembly
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:0015629	actin cytoskeleton
GO:0030027	lamellipodium
GO:0030175	filopodium

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

Q96M96