Cfc1 Gene Summary [Mouse]

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; visceral heterotaxy; and visceral heterotaxy 2. Orthologous to several human genes including CFC1B (cryptic, EGF-CFC family member 1B). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Cfc1
Official Name
cripto, FRL-1, cryptic family 1 [Source:MGI Symbol;Acc:MGI:109448]
Ensembl ID
ENSMUSG00000026124
Bio databases IDs NCBI: 12627 Ensembl: ENSMUSG00000026124
Aliases cripto, FRL-1, cryptic family 1
Synonyms AV265756, b2b970Clo, CFC1B, CRYPTIC, cryptic, EGF-CFC family member 1, DTGA2, HTX2
Species
Mouse, Mus musculus
OrthologiesHuman

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cfc1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Cripto_Frl-1_Cryptic (CFC)
  • protein binding
  • receptor binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal 2 visceral heterotaxy
  • hypoplasia
  • situs inversus totalis
  • double outlet right ventricle
  • right pulmonary isomerism
  • mesocardia
  • dextrocardia
  • atrial septal defect
  • situs ambiguus
  • congenital heart disease
regulated by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Cfc1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • heart development
  • blood vessel development
  • anterior/posterior pattern specification
  • determination of left/right symmetry
  • gastrulation
  • nodal signaling pathway

Cellular Component

Where in the cell the gene product is active
  • extracellular region
  • plasma membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • nodal binding
  • activin receptor binding

Gene-Specific Assays for Results You Can Trust

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