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CFC1 cripto, FRL-1, cryptic family 1 [ Homo sapiens (human) ]

Gene ID: 55997, updated on 21-Aug-2021

Summary

Official Symbol
CFC1provided by HGNC
Official Full Name
cripto, FRL-1, cryptic family 1provided by HGNC
Primary source
HGNC:HGNC:18292
See related
Ensembl:ENSG00000136698 MIM:605194
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTX2; CFC1B; DTGA2; CRYPTIC
Summary
This gene 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. [provided by RefSeq, Jul 2012]
Expression
Biased expression in stomach (RPKM 2.7), prostate (RPKM 2.2) and 3 other tissues See more
Orthologs
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Genomic context

See CFC1 in Genome Data Viewer
Location:
2q21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (130592165..130599575, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131349738..131357148, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene serine protease 40B (pseudogene) Neighboring gene serine protease 40A (pseudogene) Neighboring gene POTE ankyrin domain family member J Neighboring gene RNA, U6 small nuclear 848, pseudogene Neighboring gene cytochrome P450 family 4 subfamily F member 30, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ77897, MGC133213

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables activin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables molecular_function ND
No biological Data available
more info
 
enables nodal binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nodal binding IPI
Inferred from Physical Interaction
more info
 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in determination of left/right symmetry IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in determination of left/right symmetry NAS
Non-traceable Author Statement
more info
PubMed 
involved_in gastrulation IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nodal signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nodal signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
located_in anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cryptic protein
Names
cryptic family protein 1
heterotaxy 2 (autosomal dominant)

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.

Genomic

  1. NG_008148.1 RefSeqGene

    Range
    4935..12345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270420.2NP_001257349.1  cryptic protein isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK315326, BI793242, BM310214, CA941621, CA948246
    Consensus CDS
    CCDS74574.1
    UniProtKB/Swiss-Prot
    P0CG37
    UniProtKB/TrEMBL
    A0A087WWV2
    Related
    ENSP00000480526.1, ENST00000615342.4
  2. NM_001270421.2NP_001257350.1  cryptic protein isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK315326, BI793242, CA777249, CA948246
    Consensus CDS
    CCDS74573.1
    UniProtKB/Swiss-Prot
    P0CG37
    UniProtKB/TrEMBL
    A0A087WX98
    Related
    ENSP00000480843.1, ENST00000621673.4
  3. NM_032545.4NP_115934.1  cryptic protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_115934.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AF312769, AK315326, BI793242, CA948246
    Consensus CDS
    CCDS2162.1
    UniProtKB/Swiss-Prot
    P0CG37
    Related
    ENSP00000259216.5, ENST00000259216.6
    Conserved Domains (2) summary
    cd00054
    Location:91115
    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:123157
    CFC; Cripto_Frl-1_Cryptic (CFC)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    130592165..130599575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511486.3XP_011509788.1  cryptic protein isoform X1

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