Fgd1 Gene Summary [Mouse]

This gene encodes a member of family of Rho-specific guanine nucleotide exchange factors. Rho-specific guanine nucleotide exchange factors catalyze the exchange of GDP for GTP and activate small GTPases, which function as molecular switches in signaling. This protein specifically binds cell division cycle 42, a Rho (Ras homology) GTPase. Investigations in mouse suggest that this protein is important for skeletal mineralization and for regulating the actin cytoskeleton. In humans, mutations in this gene are associated with faciogenital dysplasia, also known as Aarskog-Scott syndrome. [provided by RefSeq, Mar 2014]

Details

Type
Protein Coding
Official Symbol
Fgd1
Official Name
FYVE, RhoGEF and PH domain containing 1 [Source:MGI Symbol;Acc:MGI:104566]
Ensembl ID
ENSMUSG00000025265
Bio databases IDs NCBI: 14163 Ensembl: ENSMUSG00000025265
Aliases FYVE, RhoGEF and PH domain containing 1
Synonyms AAS, FGDY, FYVE, RhoGEF and PH domain containing 1, LOC102555067, LOC108348117, MRXS16, ZFYVE3
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Fgd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FYVE zinc finger
  • enzyme binding
  • protein binding
  • Pleckstrin homology-like domain
  • proline rich domain
  • RhoGEF domain
  • FYVE domain like superfamily
  • RhoGEF
  • Protein present in Fab1, YOTB, Vac1, and EEA1
  • guanyl-nucleotide exchange factor
  • PH domain
  • PHD finger superfamily
  • Dbl homology domain

Pathways

Biological processes and signaling networks where the Fgd1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • Aarskog-Scott syndrome with attention deficit-hyperactivity disorder
  • mental retardation
  • hereditary disorder
  • Aarskog-Scott syndrome
  • syndromic x-linked mental retardation type 16
  • nonsyndromic X-linked mental retardation
regulated by
regulates
role in cell
  • migration
  • invasion by
  • activation in
  • cell viability
  • formation
  • stimulation
  • polarization
  • morphology
  • assembly
  • polarization in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • ruffle
  • cellular membrane
  • actin cytoskeleton
  • cell cortex
  • Plasma Membrane
  • Golgi Apparatus
  • cytosol
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Fgd1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell shape
  • cytoskeleton organization
  • signal transduction
  • regulation of small GTPase mediated signal transduction
  • regulation of GTPase activity
  • filopodium assembly
  • actin cytoskeleton organization
  • organ morphogenesis

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • cytoplasm
  • ruffle
  • cytosol
  • Golgi apparatus
  • lamellipodium

Molecular Function

What the gene product does at the molecular level
  • metal ion binding
  • guanyl-nucleotide exchange factor activity
  • small GTPase binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.