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Protein

Cryptic protein

Gene

CFC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

  • nodal binding Source: UniProtKB

GO - Biological processi

  • determination of left/right symmetry Source: UniProtKB
  • gastrulation Source: UniProtKB-KW
  • nodal signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Gastrulation

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

HGNCiHGNC:18292. CFC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs104893611dbSNPEnsembl.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.
860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
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...)Sequence 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.

PTM databases

iPTMnetiP0CG37.
PhosphoSitePlusiP0CG37.

Expressioni

Gene expression databases

BgeeiENSG00000136698.
ExpressionAtlasiP0CG37. baseline and differential.
GenevisibleiP0CG37. HS.

Organism-specific databases

HPAiHPA041773.

Interactioni

GO - Molecular functioni

  • nodal binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121022. 1 interactor.
STRINGi9606.ENSP00000259216.

Structurei

3D structure databases

ProteinModelPortaliP0CG37.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 1 EGF-like domain.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Signal

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
ENOG410XP6K. LUCA.
GeneTreeiENSGT00530000063804.
InParanoidiP0CG37.
OMAiLRGCHLC.
OrthoDBiEOG091G0REL.
PhylomeDBiP0CG37.
TreeFamiTF333187.

Family and domain databases

InterProiIPR019011. Cryptic/Cripto_CFC-dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
[Graphical view]
PfamiPF09443. CFC. 1 hit.
[Graphical view]
PROSITEiPS00022. EGF_1. 1 hit.
PS50026. EGF_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02432278R → W.2 PublicationsCorresponds to variant rs2579433dbSNPEnsembl.1
Natural variantiVAR_024323112R → C in HTX2; complete loss of activity; abnormal cell surface localization. 1 PublicationCorresponds to variant rs104893611dbSNPEnsembl.1
Natural variantiVAR_024324189R → C.1 Publication1

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

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.
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.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55997.
DisGeNETi55997.
GeneCardsiCFC1.
HGNCiHGNC:18292. CFC1.
HPAiHPA041773.
MalaCardsiCFC1.
MIMi605194. gene.
605376. phenotype.
neXtProtiNX_P0CG37.
OpenTargetsiENSG00000136698.
Orphaneti244283. Biliary atresia with splenic malformation syndrome.
860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
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.
PROiP0CG37.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136698.
ExpressionAtlasiP0CG37. baseline and differential.
GenevisibleiP0CG37. HS.

Family and domain databases

InterProiIPR019011. Cryptic/Cripto_CFC-dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
[Graphical view]
PfamiPF09443. CFC. 1 hit.
[Graphical view]
PROSITEiPS00022. EGF_1. 1 hit.
PS50026. EGF_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCFC1_HUMAN
AccessioniPrimary (citable) accession number: P0CG37
Secondary accession number(s): B2RCY0
, B9EJD3, Q53T05, Q9GZR3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 13, 2010
Last sequence update: July 13, 2010
Last modified: November 30, 2016
This is version 60 of the entry and version 1 of the sequence. [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

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.