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FGD1 FYVE, RhoGEF and PH domain containing 1 [ Homo sapiens (human) ]

Gene ID: 2245, updated on 11-Sep-2019

Summary

Official Symbol
FGD1provided by HGNC
Official Full Name
FYVE, RhoGEF and PH domain containing 1provided by HGNC
Primary source
HGNC:HGNC:3663
See related
Ensembl:ENSG00000102302 MIM:300546
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAS; FGDY; MRXS16; ZFYVE3
Summary
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 the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in endometrium (RPKM 4.2), brain (RPKM 3.6) and 25 other tissues See more
Orthologs

Genomic context

See FGD1 in Genome Data Viewer
Location:
Xp11.22
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (54445454..54496234, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54471887..54522599, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WNK lysine deficient protein kinase 3 Neighboring gene ribosomal protein L7a pseudogene 71 Neighboring gene RNA, U6 small nuclear 434, pseudogene Neighboring gene TSR2 ribosome maturation factor Neighboring gene G protein nucleolar 3 like Neighboring gene uncharacterized LOC107985712

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aarskog syndrome
MedGen: C0175701 OMIM: 305400 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-06-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-14)

ClinGen Genome Curation PagePubMed

Pathways from BioSystems

  • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
    Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
  • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
    NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
  • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
  • Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of CDC42 activity, organism-specific biosystem
    Regulation of CDC42 activity
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
    p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
filopodium assembly IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
ruffle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
FYVE, RhoGEF and PH domain-containing protein 1
Names
faciogenital dysplasia 1 protein
rho/Rac GEF
rho/Rac guanine nucleotide exchange factor FGD1
zinc finger FYVE domain-containing protein 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008054.1 RefSeqGene

    Range
    4933..55713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004463.3NP_004454.2  FYVE, RhoGEF and PH domain-containing protein 1

    See identical proteins and their annotated locations for NP_004454.2

    Status: REVIEWED

    Source sequence(s)
    Z85987
    Consensus CDS
    CCDS14359.1
    UniProtKB/Swiss-Prot
    P98174
    UniProtKB/TrEMBL
    A0A024R9Y5
    Related
    ENSP00000364277.3, ENST00000375135.4
    Conserved Domains (5) summary
    cd00160
    Location:376559
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cd13236
    Location:815920
    PH2_FGD1-4; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia proteins pleckstrin homology (PH) domain, C-terminus
    cd01219
    Location:591698
    PH1_FGD1; FYVE, RhoGEF and PH domain containing/faciogenital dysplasia protein 1, N-terminal Pleckstrin homology (PH) domain
    cd15741
    Location:725789
    FYVE_FGD1_2_4; FYVE domain found in FYVE, RhoGEF and PH domain-containing protein facio-genital dysplasia FGD1, FGD2, FGD4
    pfam00169
    Location:591688
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    54445454..54496234 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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