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Description for Protein CFC1

cripto, FRL-1, cryptic family 1
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family. EGF-CFC family member proteins share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. These proteins play key roles in intercellular signaling pathways during vertebrate embryogenesis. Mutations in this gene can cause autosomal visceral heterotaxy. This protein is involved in left-right asymmetric morphogenesis during organ development. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    HTX2; Cryptic
    Approved Symbol:
    CFC1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Double-outlet right ventricle(Pd);
  • Heterota XY, visceral, autosomal(Pd);
  • Transposition of the great arteries, dextro-looped(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05548 Entrez Gene ID: 55997 OMIM ID: 605194 Swissprot Accession: Q9GZR3;