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Aliases for FGD1 Gene

Aliases for FGD1 Gene

  • FYVE, RhoGEF And PH Domain Containing 1 2 3
  • FGDY 3 4 6
  • Rho/Rac Guanine Nucleotide Exchange Factor FGD1 3 4
  • Zinc Finger FYVE Domain-Containing Protein 3 3 4
  • Faciogenital Dysplasia 1 Protein 3 4
  • Rho/Rac GEF 3 4
  • MRXS16 3 6
  • ZFYVE3 3 4
  • AAS 3 6
  • Faciogenital Dysplasia (Aarskog-Scott Syndrome) 2
  • FYVE, RhoGEF And PH Domain-Containing Protein 1 3

External Ids for FGD1 Gene

Previous HGNC Symbols for FGD1 Gene

  • FGDY

Previous GeneCards Identifiers for FGD1 Gene

  • GC0XM051323
  • GC0XM052410
  • GC0XM053077
  • GC0XM053438
  • GC0XM054354
  • GC0XM051522

Summaries for FGD1 Gene

Entrez Gene Summary for FGD1 Gene

  • 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]

GeneCards Summary for FGD1 Gene

FGD1 (FYVE, RhoGEF And PH Domain Containing 1) is a Protein Coding gene. Diseases associated with FGD1 include aarskog-scott syndrome and fgd1-related x-linked mental retardation. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD5.

UniProtKB/Swiss-Prot for FGD1 Gene

  • 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.

Gene Wiki entry for FGD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD1 Gene

Genomics for FGD1 Gene

Regulatory Elements for FGD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FGD1 Gene

54,445,454 bp from pter
54,496,166 bp from pter
50,713 bases
Minus strand

Genomic View for FGD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FGD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGD1 Gene

Proteins for FGD1 Gene

  • Protein details for FGD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FYVE, RhoGEF and PH domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q5H999
    • Q8N4D9

    Protein attributes for FGD1 Gene

    961 amino acids
    Molecular mass:
    106561 Da
    Quaternary structure:
    • Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42.

neXtProt entry for FGD1 Gene

Proteomics data for FGD1 Gene at MOPED

Post-translational modifications for FGD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FGD1 Gene

Domains for FGD1 Gene

Gene Families for FGD1 Gene

  • ARHGEF :Rho guanine nucleotide exchange factors
  • PLEKH :Pleckstrin homology (PH) domain containing
  • ZFYVE :Zinc fingers, FYVE domain containing

Suggested Antigen Peptide Sequences for FGD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P98174
  • The DH domain is involved in interaction with CCPG1.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 2 PH domains.
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with FGD1: view

Function for FGD1 Gene

Molecular function for FGD1 Gene

GENATLAS Biochemistry:
Rho/Rac,CDC42Hs specific (guanine nucleotide exchange factor) 1,involved in signal transduction and mammalian morphogenesis
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for FGD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 8969170
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding --
GO:0031267 small GTPase binding IDA 8969170
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FGD1: view

Phenotypes for FGD1 Gene

GenomeRNAi human phenotypes for FGD1:
genes like me logo Genes that share phenotypes with FGD1: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FGD1 Gene

Localization for FGD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGD1 Gene

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

Subcellular locations from

Jensen Localization Image for FGD1 Gene COMPARTMENTS Subcellular localization image for FGD1 gene
Compartment Confidence
cytosol 4
golgi apparatus 4
nucleus 4
plasma membrane 4
cytoskeleton 2
extracellular 2

Gene Ontology (GO) - Cellular Components for FGD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FGD1: view

Pathways for FGD1 Gene

genes like me logo Genes that share pathways with FGD1: view

Pathways by source for FGD1 Gene

Gene Ontology (GO) - Biological Process for FGD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007165 signal transduction TAS 8969170
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007275 multicellular organismal development TAS 8969170
GO:0008360 regulation of cell shape ISS --
genes like me logo Genes that share ontologies with FGD1: view

Compounds for FGD1 Gene

(1) HMDB Compounds for FGD1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
genes like me logo Genes that share compounds with FGD1: view

Transcripts for FGD1 Gene

mRNA/cDNA for FGD1 Gene

(4) Additional mRNA sequences :
(75) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FGD1 Gene

FYVE, RhoGEF and PH domain containing 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FGD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGD1 Gene

No ASD Table

Relevant External Links for FGD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FGD1 Gene

mRNA expression in normal human tissues for FGD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for FGD1 Gene

This gene is overexpressed in Fetal Brain (56.9) and Urine (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FGD1 Gene

SOURCE GeneReport for Unigene cluster for FGD1 Gene Hs.709201

mRNA Expression by UniProt/SwissProt for FGD1 Gene

Tissue specificity: Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle
genes like me logo Genes that share expressions with FGD1: view

Expression partners for FGD1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FGD1 Gene

Orthologs for FGD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia FGD1 35
  • 93.4 (n)
  • 96.04 (a)
FGD1 36
  • 96 (a)
(Canis familiaris)
Mammalia FGD1 35
  • 93.47 (n)
  • 95.62 (a)
FGD1 36
  • 97 (a)
(Mus musculus)
Mammalia Fgd1 35
  • 91.56 (n)
  • 94.58 (a)
Fgd1 16
Fgd1 36
  • 95 (a)
(Pan troglodytes)
Mammalia FGD1 35
  • 99.03 (n)
  • 98.75 (a)
FGD1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Fgd1 35
  • 92.27 (n)
  • 96.63 (a)
(Monodelphis domestica)
Mammalia FGD1 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia FGD1 36
  • 56 (a)
(Anolis carolinensis)
Reptilia FGD1 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fgd1 35
  • 65.75 (n)
  • 67.89 (a)
(Danio rerio)
Actinopterygii fgd1 35
  • 70.19 (n)
  • 74.19 (a)
fgd1 36
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 36
  • 20 (a)
(Caenorhabditis elegans)
Secernentea exc-5 37
  • 28 (a)
exc-5 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6211 36
  • 38 (a)
Species with no ortholog for FGD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGD1 Gene

Gene Tree for FGD1 (if available)
Gene Tree for FGD1 (if available)

Paralogs for FGD1 Gene

Paralogs for FGD1 Gene

Selected SIMAP similar genes for FGD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FGD1: view

Variants for FGD1 Gene

Sequence variations from dbSNP and Humsavar for FGD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs735328 -- 54,483,302(-) CCCCC(C/T)ACCTA intron-variant
rs1126744 Benign 54,449,671(-) ACCCC(A/G)CCCAA reference, synonymous-codon
rs1894556 -- 54,474,511(-) GGGAG(A/G)GGCGC intron-variant
rs1937121 -- 54,494,374(-) GTTGA(A/G)ATTTT intron-variant
rs1937122 -- 54,494,327(-) GAGTA(A/G)AAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FGD1 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073

Relevant External Links for FGD1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD1 Gene

Disorders for FGD1 Gene

(1) OMIM Diseases for FGD1 Gene (300546)


  • 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:0000269 PubMed:10930571, ECO:0000269 PubMed:11093277, ECO:0000269 PubMed: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.

(7) Novoseek inferred disease relationships for FGD1 Gene

Disease -log(P) Hits PubMed IDs
aarskog syndrome 96.1 11
genitourinary anomaly 77.2 1
dysplasia 76.2 24
short stature 70.1 1
developmental disabilities 68.5 4

Genatlas disease for FGD1 Gene

Aarskog syndrome,faciogenital dysplasia and brachydactyly

Relevant External Links for FGD1

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with FGD1: view

Publications for FGD1 Gene

  1. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. (PMID: 11940089) Lebel R.R. … Schwartz C.E. (Clin. Genet. 2002) 3 4 23 48
  2. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. (PMID: 14560308) Orrico A. … Sorrentino V. (Eur. J. Hum. Genet. 2004) 3 4 23 48
  3. A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (PMID: 10930571) Orrico A. … Sorrentino V. (FEBS Lett. 2000) 3 4 23
  4. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. (PMID: 11093277) Schwartz C.E. … Neri G. (Eur. J. Hum. Genet. 2000) 3 4 23
  5. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (PMID: 7954831) Pasteris N.G. … Gorski J.L. (Cell 1994) 3 4 23

Products for FGD1 Gene

Sources for FGD1 Gene

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