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Protein

Cryptic protein

Gene

CFC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.1 Publication

Caution

This gene differs from CFC1B by only one residue at position 78:R -> W. R78W is also thought to be a CFC1 polymorphism which has been shown to lead to a different cell surface distribution and activity (PubMed:11799476 and PubMed:11062482).Curated

GO - Molecular functioni

  • activin receptor binding Source: GO_Central
  • nodal binding Source: UniProtKB
  • signaling receptor binding Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processGastrulation

Enzyme and pathway databases

ReactomeiR-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL

Names & Taxonomyi

Protein namesi
Recommended name:
Cryptic protein
Alternative name(s):
Cryptic family protein 1
Gene namesi
Name:CFC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000136698.8
HGNCiHGNC:18292 CFC1
MIMi605194 gene
neXtProtiNX_P0CG37

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Heterotaxy, visceral, 2, autosomal (HTX2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations.
See also OMIM:605376
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024323112R → C in HTX2; complete loss of activity; abnormal cell surface localization. 1 PublicationCorresponds to variant dbSNP:rs104893611EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi191 – 223LRPDA…LGHRL → VVVVV: Does not affect the cellular localization and the biological activity. Add BLAST33
Mutagenesisi191 – 223Missing : Increased NODAL dependent signaling. Add BLAST33

Keywords - Diseasei

Disease mutation, Heterotaxy

Organism-specific databases

DisGeNETi55997
MalaCardsiCFC1
MIMi605376 phenotype
OpenTargetsiENSG00000136698
Orphaneti244283 Biliary atresia with splenic malformation syndrome
216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation
99042 Congenitally uncorrected transposition of the great arteries with coarctation
216718 Isolated congenitally uncorrected transposition of the great arteries
157769 Situs ambiguus
PharmGKBiPA134916180

Polymorphism and mutation databases

BioMutaiCFC1
DMDMi300680886

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000004463026 – 158Cryptic proteinAdd BLAST133
PropeptideiPRO_0000395407159 – 223Removed in mature formAdd BLAST65

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi90 ↔ 97PROSITE-ProRule annotation
Disulfide bondi91 ↔ 103PROSITE-ProRule annotation
Disulfide bondi105 ↔ 114PROSITE-ProRule annotation
Lipidationi158GPI-anchor amidated aspartate1 Publication1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiP0CG37
PeptideAtlasiP0CG37
PRIDEiP0CG37
ProteomicsDBi52467

PTM databases

iPTMnetiP0CG37
PhosphoSitePlusiP0CG37

Expressioni

Gene expression databases

BgeeiENSG00000136698 Expressed in 51 organ(s), highest expression level in pituitary gland
ExpressionAtlasiP0CG37 baseline and differential
GenevisibleiP0CG37 HS

Organism-specific databases

HPAiHPA041773

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121022, 1 interactor
STRINGi9606.ENSP00000259216

Structurei

3D structure databases

ProteinModelPortaliP0CG37
SMRiP0CG37
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini86 – 115EGF-likePROSITE-ProRule annotationAdd BLAST30

Sequence similaritiesi

Keywords - Domaini

EGF-like domain, Signal

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00530000063804
InParanoidiP0CG37
OMAiLRGCHLC
OrthoDBiEOG091G0REL
PhylomeDBiP0CG37
TreeFamiTF333187

Family and domain databases

InterProiView protein in InterPro
IPR019011 Cryptic/Cripto_CFC-dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
PfamiView protein in Pfam
PF09443 CFC, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 1 hit
PS50026 EGF_3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P0CG37-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTWRHHVRLL FTVSLALQII NLGNSYQREK HNGGREEVTK VATQKHRQSP
60 70 80 90 100
LNWTSSHFGE VTGSAEGWGP EEPLPYSRAF GEGASARPRC CRNGGTCVLG
110 120 130 140 150
SFCVCPAHFT GRYCEHDQRR SECGALEHGA WTLRACHLCR CIFGALHCLP
160 170 180 190 200
LQTPDRCDPK DFLASHAHGP SAGGAPSLLL LLPCALLHRL LRPDAPAHPR
210 220
SLVPSVLQRE RRPCGRPGLG HRL
Length:223
Mass (Da):24,612
Last modified:July 13, 2010 - v1
Checksum:iB52852A00ABCF1A3
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX98A0A087WX98_HUMAN
Cryptic protein
CFC1
148Annotation score:
A0A087WWV2A0A087WWV2_HUMAN
Cryptic protein
CFC1
191Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02432278R → W2 PublicationsCorresponds to variant dbSNP:rs2579433Ensembl.1
Natural variantiVAR_024323112R → C in HTX2; complete loss of activity; abnormal cell surface localization. 1 PublicationCorresponds to variant dbSNP:rs104893611EnsemblClinVar.1
Natural variantiVAR_024324189R → C1 PublicationCorresponds to variant dbSNP:rs1350439781Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312769 mRNA Translation: AAG30294.1
AF312925 Genomic DNA Translation: AAG42475.1
AK315326 mRNA Translation: BAG37727.1
AC140481 Genomic DNA No translation available.
BC069508 mRNA Translation: AAH69508.1
BC074825 mRNA Translation: AAH74825.1
BC074826 mRNA Translation: AAH74826.1
BC110080 mRNA Translation: AAI10081.1
BC146897 mRNA Translation: AAI46898.1
CCDSiCCDS2162.1
RefSeqiNP_001257349.1, NM_001270420.1
NP_001257350.1, NM_001270421.1
NP_115934.1, NM_032545.3
UniGeneiHs.567542

Genome annotation databases

EnsembliENST00000259216; ENSP00000259216; ENSG00000136698
GeneIDi55997
KEGGihsa:55997
UCSCiuc002tro.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312769 mRNA Translation: AAG30294.1
AF312925 Genomic DNA Translation: AAG42475.1
AK315326 mRNA Translation: BAG37727.1
AC140481 Genomic DNA No translation available.
BC069508 mRNA Translation: AAH69508.1
BC074825 mRNA Translation: AAH74825.1
BC074826 mRNA Translation: AAH74826.1
BC110080 mRNA Translation: AAI10081.1
BC146897 mRNA Translation: AAI46898.1
CCDSiCCDS2162.1
RefSeqiNP_001257349.1, NM_001270420.1
NP_001257350.1, NM_001270421.1
NP_115934.1, NM_032545.3
UniGeneiHs.567542

3D structure databases

ProteinModelPortaliP0CG37
SMRiP0CG37
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121022, 1 interactor
STRINGi9606.ENSP00000259216

PTM databases

iPTMnetiP0CG37
PhosphoSitePlusiP0CG37

Polymorphism and mutation databases

BioMutaiCFC1
DMDMi300680886

Proteomic databases

PaxDbiP0CG37
PeptideAtlasiP0CG37
PRIDEiP0CG37
ProteomicsDBi52467

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259216; ENSP00000259216; ENSG00000136698
GeneIDi55997
KEGGihsa:55997
UCSCiuc002tro.3 human

Organism-specific databases

CTDi55997
DisGeNETi55997
EuPathDBiHostDB:ENSG00000136698.8
GeneCardsiCFC1
HGNCiHGNC:18292 CFC1
HPAiHPA041773
MalaCardsiCFC1
MIMi605194 gene
605376 phenotype
neXtProtiNX_P0CG37
OpenTargetsiENSG00000136698
Orphaneti244283 Biliary atresia with splenic malformation syndrome
216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation
99042 Congenitally uncorrected transposition of the great arteries with coarctation
216718 Isolated congenitally uncorrected transposition of the great arteries
157769 Situs ambiguus
PharmGKBiPA134916180
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00530000063804
InParanoidiP0CG37
OMAiLRGCHLC
OrthoDBiEOG091G0REL
PhylomeDBiP0CG37
TreeFamiTF333187

Enzyme and pathway databases

ReactomeiR-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL

Miscellaneous databases

GenomeRNAii55997
PROiPR:P0CG37
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136698 Expressed in 51 organ(s), highest expression level in pituitary gland
ExpressionAtlasiP0CG37 baseline and differential
GenevisibleiP0CG37 HS

Family and domain databases

InterProiView protein in InterPro
IPR019011 Cryptic/Cripto_CFC-dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
PfamiView protein in Pfam
PF09443 CFC, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 1 hit
PS50026 EGF_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCFC1_HUMAN
AccessioniPrimary (citable) accession number: P0CG37
Secondary accession number(s): B2RCY0
, B9EJD3, Q53T05, Q9GZR3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 13, 2010
Last sequence update: July 13, 2010
Last modified: November 7, 2018
This is version 70 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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