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Description for Protein FOXC1

forkhead box C1
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • FH: FORKHEAD
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09396
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Forkhead box C1; Forkhead related activator 3; FREAC3; Forkhead homolog like 7; Forkhead related protein FKHL7; Forkhead related transcription factor 3; FKHL7; ARA; IHG1; IRID1; IGDA
    Approved Symbol:
    FOXC1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 14
    Human (de-) phosphorylation sites: 14; 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:

  • Anterior segment mesenchymal dysgenesis(Pd);
  • Axenfeld anomaly(Pd);
  • Axenfeld-Rieger anomaly(Pd);
  • Axenfeld-Rieger syndrome(Pd);
  • Iridogoniodysgenesis(Pd);
  • Iridogoniodysgenesis, type 1(Pd);
  • Iris hypoplasia and glaucoma(Pd);
  • Rieger anomaly(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03054 Entrez Gene ID: 2296 OMIM ID: 601090 Swissprot Accession: Q12948;