Cryptic protein

Cryptic protein, also cryptic family member 1 is a protein that in humans is encoded by the CFC1 gene.^{[5] [6]}

CFC1
Identifiers
Aliases	CFC1, cripto, FRL-1, cryptic family 1, AV265756, b2b970Clo, cryptic, CFC1B, DTGA2, HTX2
External IDs	OMIM: 605194; MGI: 109448; HomoloGene: 50007; GeneCards: CFC1; OMA:CFC1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q21.1 Start 130,592,165 bp[1] End 130,599,575 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 B Start 34,574,729 bp[2] End 34,583,394 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans pituitary gland anterior pituitary gonad hypothalamus body of pancreas testicle nucleus accumbens primary visual cortex cerebellum Top expressed in embryo mesoderm gastrula morula blastocyst embryo embryonic organizer lateral plate mesoderm epiblast condyle More reference expression data BioGPS n/a
Gene ontology Molecular function nodal binding molecular function signaling receptor binding activin receptor binding Cellular component extracellular region anchored component of membrane plasma membrane membrane cellular component cell surface Biological process multicellular organism development determination of left/right symmetry gastrulation nodal signaling pathway heart development anterior/posterior pattern specification BMP signaling pathway anatomical structure development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55997 12627 Ensembl ENSG00000136698 ENSMUSG00000026124 UniProt P0CG37 P97766 RefSeq (mRNA) NM_001270420 NM_001270421 NM_032545 NM_007685 RefSeq (protein) NP_001257349 NP_001257350 NP_115934 NP_031711 Location (UCSC) Chr 2: 130.59 – 130.6 Mb Chr 1: 34.57 – 34.58 Mb PubMed search [3] [4]
Wikidata
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Function

CFC1 is located on chromosome 2 and encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.