Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 76 (11 Dec 2019)
Sequence version 1 (13 Jul 2010)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Cryptic protein

Gene

CFC1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processGastrulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cryptic protein
Alternative name(s):
Cryptic family protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CFC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000136698.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18292 CFC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605194 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P0CG37

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
55997

MalaCards human disease database

More...
MalaCardsi
CFC1
MIMi605376 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136698

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
244283 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134916180

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P0CG37 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300680886

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004463026 – 158Cryptic proteinAdd BLAST133
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000395407159 – 223Removed in mature formAdd BLAST65

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi90 ↔ 97PROSITE-ProRule annotation
Disulfide bondi91 ↔ 103PROSITE-ProRule annotation
Disulfide bondi105 ↔ 114PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi158GPI-anchor amidated aspartate1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P0CG37

PeptideAtlas

More...
PeptideAtlasi
P0CG37

PRoteomics IDEntifications database

More...
PRIDEi
P0CG37

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
52467

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P0CG37

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P0CG37

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136698 Expressed in 51 organ(s), highest expression level in pituitary gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P0CG37 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P0CG37 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041773

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121022, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000259216

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P0CG37 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P0CG37

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini86 – 115EGF-likePROSITE-ProRule annotationAdd BLAST30

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

EGF-like domain, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
ENOG410XP6K LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162302

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P0CG37

Identification of Orthologs from Complete Genome Data

More...
OMAi
VFGALHC

Database of Orthologous Groups

More...
OrthoDBi
1314811at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P0CG37

TreeFam database of animal gene trees

More...
TreeFami
TF333187

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019011 Cryptic/Cripto_CFC-dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09443 CFC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00022 EGF_1, 1 hit
PS50026 EGF_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB52852A00ABCF1A3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WX98A0A087WX98_HUMAN
Cryptic protein
CFC1
148Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2162.1

NCBI Reference Sequences

More...
RefSeqi
NP_001257349.1, NM_001270420.1
NP_001257350.1, NM_001270421.1
NP_115934.1, NM_032545.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000259216; ENSP00000259216; ENSG00000136698

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55997

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55997

UCSC genome browser

More...
UCSCi
uc002tro.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiP0CG37
ModBaseiSearch...

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

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55997
DisGeNETi55997
EuPathDBiHostDB:ENSG00000136698.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFC1
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00940000162302
InParanoidiP0CG37
OMAiVFGALHC
OrthoDBi1314811at2759
PhylomeDBiP0CG37
TreeFamiTF333187

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CFC1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55997
PharosiP0CG37 Tbio

Protein Ontology

More...
PROi
PR:P0CG37
RNActiP0CG37 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCFC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P0CG37
Secondary accession number(s): B2RCY0
, B9EJD3, Q53T05, Q9GZR3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 13, 2010
Last sequence update: July 13, 2010
Last modified: December 11, 2019
This is version 76 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again