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

Gene ID: 12627, updated on 27-Nov-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, Nov 2024]
Expression
Biased expression in testis adult (RPKM 1.7), ovary adult (RPKM 0.4) and 4 other tissues See more
Orthologs
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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)

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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)