Cfc1 (cryptic, EGF-CFC family member 1) - Rat Genome Database

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Gene: Cfc1 (cryptic, EGF-CFC family member 1) Mus musculus
Analyze
Symbol: Cfc1
Name: cryptic, EGF-CFC family member 1 (Ensembl:cripto, FRL-1, cryptic family 1)
RGD ID: 1557732
MGI Page MGI
Description: 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AV265756; b2b970C; b2b970Clo; cripto, FRL-1, cryptic family 1; cryp; cryptic
RGD Orthologs
Human
Rat
Bonobo
Dog
Pig
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39134,574,729 - 34,583,392 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl134,574,729 - 34,583,394 (+)EnsemblGRCm39 Ensembl
GRCm38134,535,648 - 34,544,311 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl134,535,648 - 34,544,313 (+)EnsemblGRCm38mm10GRCm38
MGSCv37134,592,493 - 34,601,156 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36134,480,194 - 34,488,857 (+)NCBIMGSCv36mm8
Celera134,300,622 - 34,309,253 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map113.34NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Bamford RN, etal., Nat Genet. 2000 Nov;26(3):365-9. doi: 10.1038/81695.
2. Duplication and deletion of CFC1 associated with heterotaxy syndrome. Cao R, etal., DNA Cell Biol. 2015 Feb;34(2):101-6. doi: 10.1089/dna.2014.2616. Epub 2014 Nov 25.
3. A role of the cryptic gene in the correct establishment of the left-right axis. Gaio U, etal., Curr Biol. 1999 Nov 18;9(22):1339-42. doi: 10.1016/s0960-9822(00)80059-7.
4. MGDs mouse GO annotations MGD data from the GO Consortium
5. MGD IEA MGD IEA
6. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Mouse MP Annotation Import Pipeline RGD automated import pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot. Sheng W, etal., J Transl Med. 2014 Jan 31;12:31. doi: 10.1186/1479-5876-12-31.
Additional References at PubMed
PMID:9053319   PMID:9576836   PMID:10521397   PMID:11024280   PMID:11174844   PMID:11327798   PMID:11412024   PMID:11440720   PMID:11517919   PMID:11825688   PMID:11992720   PMID:12052855  
PMID:12361961   PMID:12477932   PMID:12654299   PMID:14610273   PMID:14623818   PMID:14668413   PMID:15475956   PMID:15489334   PMID:15736223   PMID:16291790   PMID:16835440   PMID:17210915  
PMID:17360443   PMID:17913787   PMID:17936261   PMID:17991893   PMID:18171685   PMID:18241853   PMID:18550712   PMID:18697220   PMID:18773496   PMID:19716815   PMID:19906859   PMID:20346354  
PMID:21419113   PMID:21731673   PMID:21873635   PMID:22627279   PMID:23034635   PMID:23651855   PMID:24780629   PMID:24952961   PMID:25224222   PMID:25807483   PMID:27606604   PMID:28126904  
PMID:33730615  


Genomics

Comparative Map Data
Cfc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39134,574,729 - 34,583,392 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl134,574,729 - 34,583,394 (+)EnsemblGRCm39 Ensembl
GRCm38134,535,648 - 34,544,311 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl134,535,648 - 34,544,313 (+)EnsemblGRCm38mm10GRCm38
MGSCv37134,592,493 - 34,601,156 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36134,480,194 - 34,488,857 (+)NCBIMGSCv36mm8
Celera134,300,622 - 34,309,253 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map113.34NCBI
CFC1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,521,222 - 130,528,603 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,521,197 - 130,528,604 (+)EnsemblGRCh38hg38GRCh38
GRCh372131,278,795 - 131,286,176 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,995,137 - 131,002,035 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map2q21.1NCBI
HuRef2123,494,573 - 123,501,471 (-)NCBIHuRef
T2T-CHM13v2.02130,955,059 - 130,962,469 (+)NCBIT2T-CHM13v2.0
Cfc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8944,234,997 - 44,247,846 (+)NCBIGRCr8
mRatBN7.2936,742,106 - 36,751,931 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl936,739,071 - 36,751,930 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx945,241,509 - 45,248,846 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0950,372,685 - 50,380,022 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0948,654,596 - 48,661,933 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0941,045,352 - 41,051,979 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl941,045,363 - 41,052,024 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0940,715,518 - 40,722,102 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4933,280,037 - 33,287,118 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera934,533,261 - 34,540,347 (+)NCBICelera
Cytogenetic Map9q21NCBI
CFC1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21344,953,766 - 44,962,222 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B44,968,741 - 44,977,173 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B29,354,004 - 29,362,161 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B131,440,871 - 131,448,310 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC609557
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11920,318,937 - 20,384,369 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1920,622,155 - 20,687,786 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01921,635,233 - 21,700,948 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1921,690,527 - 21,700,978 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11920,274,928 - 20,339,946 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01920,565,378 - 20,602,313 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01921,578,101 - 21,643,757 (+)NCBIUU_Cfam_GSD_1.0
CFC1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11556,943,183 - 56,951,929 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215156,796,746 - 156,838,845 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in Cfc1
390 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:100
Count of miRNA genes:97
Interacting mature miRNAs:100
Transcripts:ENSMUST00000027298
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1301275Sle10_msystematic lupus erythematosus susceptibility 10 (mouse)Not determined1288219436882352Mouse
1301370Adip1_madiposity 1 (mouse)Not determined1288219436882352Mouse
13824984Twq5_mtestis weight QTL 5 (mouse)13069992184732197Mouse
15092044Wtgrme1_mweek ten growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092046Wngrme1_mweek nine growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092048Wsigrme1_mweek six growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092050Wsegrme1_mweek seven growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092051Wegrme1_mweek eight growth rate, maternal effect 1 (mouse)1328014237782236Mouse
15092055Lgrme1_mlate growth rate, maternal effect 1 (mouse)1328014237782236Mouse
11039528Ccc3_mcolitis susceptibility in the Collaborative Cross 3 (mouse)13680142195051546Mouse
1301471Obq2_mobesity QTL 2 (mouse)Not determined1394162037941887Mouse
10043970Obq23_mobesity QTL 23 (mouse)Not determined1501266539012665Mouse
1301011Cplaq4_mcircadian period of locomotor activity 4 (mouse)Not determined1967344243673601Mouse
14700685Civq2_mcerebral infarct volume QTL 2 (mouse)11134048245340482Mouse
1301073Orch5_mautoimmune orchitis resistance 5 (mouse)Not determined11906535153065454Mouse
1301756Pgia1_mproteoglycan induced arthritis 1 (mouse)Not determined11906535153065454Mouse
1301240Sluc15_msusceptibility to lung cancer 15 (mouse)Not determined11906535153065454Mouse
12880407V125Dq2_mvitamin D active form serum level QTL 2 (mouse)11933908153339081Mouse
1357475w3q13_mweight 3 weeks QTL 13 (mouse)Not determined12310959173976915Mouse
4142433Hbnr1_mHeligmosomoides bakeri nematode resistance 1 (mouse)Not determined2555019158273271Mouse
11100001Col4a1m1_mcollagen, type IV, alpha 1 modifier 1 (mouse)12555019162946882Mouse
12880409V125Dq1_mvitamin D active form serum level QTL 1 (mouse)12603916060039160Mouse

Markers in Region
AV265756  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38134,544,061 - 34,544,147UniSTSGRCm38
MGSCv37134,600,906 - 34,600,992UniSTSGRCm37
Celera134,309,003 - 34,309,089UniSTS
Cytogenetic Map1BUniSTS
Whitehead/MRC_RH1582.57UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000027298   ⟹   ENSMUSP00000027298
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl134,574,729 - 34,583,394 (+)Ensembl
GRCm38.p6 Ensembl134,535,648 - 34,544,313 (+)Ensembl
RefSeq Acc Id: NM_007685   ⟹   NP_031711
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39134,574,729 - 34,583,392 (+)NCBI
GRCm38134,535,648 - 34,544,311 (+)ENTREZGENE
MGSCv37134,592,493 - 34,601,156 (+)RGD
Celera134,300,622 - 34,309,253 (+)RGD
cM Map1 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_153806
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39134,574,729 - 34,583,392 (+)NCBI
GRCm38134,535,648 - 34,544,311 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_031711   ⟸   NM_007685
- Peptide Label: precursor
- UniProtKB: Q496U5 (UniProtKB/Swiss-Prot),   Q9JIB7 (UniProtKB/Swiss-Prot),   P97766 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000027298   ⟸   ENSMUST00000027298
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P97766-F1-model_v2 AlphaFold P97766 1-202 view protein structure

Promoters
RGD ID:6873400
Promoter ID:EPDNEW_M151
Type:single initiation site
Name:Cfc1_1
Description:Mus musculus cripto, FRL-1, cryptic family 1 , transcript variant1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38134,535,631 - 34,535,691EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:109448 AgrOrtholog
Ensembl Genes ENSMUSG00000026124 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000027298 ENTREZGENE
  ENSMUST00000027298.5 UniProtKB/Swiss-Prot
Gene3D-CATH Laminin UniProtKB/Swiss-Prot
InterPro Cryptic/Cripto_CFC-dom UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
KEGG Report mmu:12627 UniProtKB/Swiss-Prot
MGD MGI:109448 ENTREZGENE
NCBI Gene 12627 ENTREZGENE
PANTHER CRYPTIC FAMILY PROTEIN 1B-RELATED UniProtKB/Swiss-Prot
  EGF-LIKE-DOMAIN, MULTIPLE 7, 8 UniProtKB/Swiss-Prot
Pfam CFC UniProtKB/Swiss-Prot
PhenoGen Cfc1 PhenoGen
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
UniProt CFC1_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q496U5 ENTREZGENE
  Q9JIB7 ENTREZGENE
UniProt Secondary Q496U5 UniProtKB/Swiss-Prot
  Q9JIB7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-27 Cfc1  cryptic, EGF-CFC family member 1  Cfc1  cripto, FRL-1, cryptic family 1  Symbol and/or name change 5135510 APPROVED