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FLASH GENE
Symbol CFC1 contributors: mct - updated : 22-11-2016
HGNC name cripto, FRL-1, cryptic family 1
HGNC id 18292
Corresponding disease
CTHM1 conotruncal heart malformations 1
HTX2 abnormal left-right axis with visceroatrial heterotaxy (situs ambiguus)
Location 2q21.1      Physical location : 131.278.835 - 131.357.082
Synonym name
  • EGF-CFC gene (cryptic)
  • cryptic protein
    • Synonym symbol(s) CRYPTIC, EGF-CFC, MGC133213, CFC1B, DTGA2, HTX2, cripto-1
    DNA
    TYPE functioning gene
    STRUCTURE 7.41 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1452 - 148 - 2008 18930707
    5 - 1562 - 191 - 2008 18930707
    6 - 1677 - 223 - 2008 18930707
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text before the early somite stages
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal signal sequence
  • variant EGF-like motif, a novel cysteine rich domain (CFC domain)
  • a C terminal hydrophobic region, that functions as a GPI-anchoring signal
    • HOMOLOGY
    interspecies homolog to murine Cfc1
    intraspecies paralog to CRIPTO (TDGF1)
    Homologene
    FAMILY EGF-CFC gene family
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • left-right axis development (L/R)
  • playing key role in intercellular signaling pathways during vertebrate embryogenesis
  • both TDGF1 and CFC1 function non-cell-autonomously during normal development
  • important roles in tumor formation and metastasis
  • enhances likely macrophage phagocytic activity and upregulates the production of anti- and pro-inflammatory cytokines via the NFKB1 signaling pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text embryogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cofactor for NODAL signaling through its receptors ALK4 (ACVR1B) (type I), ALK7/TGFBR2, ACTR2A, (ACVR2) and ACTR2B (ACVR2B), (type II)
  • during development, NODAL depends on growth and differentiation factor GDF1 and on the shared co-receptor CFC1 to specify visceral left-right axis asymmetry
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HTX2 , CTHM1
    Susceptibility
    Variant & Polymorphism other
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS