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    Cfc1 cryptic, EGF-CFC family member 1 [ Mus musculus (house mouse) ]

    Gene ID: 12627, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cfc1provided by MGI
    Official Full Name
    cryptic, EGF-CFC family member 1provided by MGI
    Primary source
    MGI:MGI:109448
    See related
    Ensembl:ENSMUSG00000026124 AllianceGenome:MGI:109448
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    cryptic; b2b970Clo
    Summary
    Enables activin receptor binding activity. Involved in nodal signaling pathway. Acts upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be located in plasma membrane. Predicted to be active in cell surface and extracellular region. Is expressed in several structures, including embryo mesoderm; intermediate mesenchyme; neural ectoderm; and primitive streak. Used to study dextro-looped transposition of the great arteries; double outlet right ventricle; right atrial isomerism; and visceral heterotaxy. Human ortholog(s) of this gene implicated in tetralogy of Fallot and visceral heterotaxy. Orthologous to several human genes including CFC1 (cryptic, EGF-CFC family member 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 1.7), ovary adult (RPKM 0.4) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cfc1 in Genome Data Viewer
    Location:
    1 B; 1 13.34 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (34574729..34583392)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (34535648..34544311)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930568A12 gene Neighboring gene predicted gene, 32566 Neighboring gene serine protease 39 Neighboring gene serine protease 40 Neighboring gene predicted gene 28419 Neighboring gene regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 pseudogene Neighboring gene APC membrane recruitment 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2) 
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables activin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables nodal binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nodal binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within anatomical structure development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within atrial septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in blood vessel development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within coronary vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of left/right symmetry IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endoderm development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within heart looping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within left lung morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within liver development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nodal signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nodal signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within respiratory system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spleen development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cryptic protein
    Names
    cripto, FRL-1, cryptic family 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_007685.3NP_031711.1  cryptic protein precursor

      See identical proteins and their annotated locations for NP_031711.1

      Status: VALIDATED

      Source sequence(s)
      AC106841
      Consensus CDS
      CCDS14869.1
      UniProtKB/Swiss-Prot
      P97766, Q496U5, Q9JIB7
      Related
      ENSMUSP00000027298.4, ENSMUST00000027298.5
      Conserved Domains (2) summary
      cd00054
      Location:99123
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam09443
      Location:131165
      CFC; Cripto_Frl-1_Cryptic (CFC)

    RNA

    1. NR_153806.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC106841

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      34574729..34583392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)