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Description for Protein FGD4

FYVE, RhoGEF and PH domain containing 4
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • RHOGEF: Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
  • FYVE: Protein present in Fab1, YOTB, Vac1, and EEA1

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05723
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Actin filament binding protein frabin; FGD1 related F actin binding protein; Zinc finger FYVE domain containing protein 6; FRABP; ZFYVE6; Frabin alpha; FYVE RhoGEF and PH domain containing protein 4
    Approved Symbol:
    FGD4
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available


    Associated Genetic Diseases:

    None Available
    Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 16891 Entrez Gene ID: 121512 OMIM ID: 611104 Swissprot Accession: Q96M96