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P0CG37

- CFC1_HUMAN

UniProt

P0CG37 - CFC1_HUMAN

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Protein

Cryptic protein

Gene
CFC1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. nodal binding Source: UniProtKB

GO - Biological processi

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

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Gastrulation

Enzyme and pathway databases

ReactomeiREACT_111057. Signaling by NODAL.
REACT_111059. 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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:18292. CFC1.

Subcellular locationi

Cell membrane; Lipid-anchorGPI-anchor. Secreted
Note: Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates.1 Publication

GO - Cellular componenti

  1. anchored component of membrane Source: UniProtKB-KW
  2. extracellular region Source: UniProtKB-SubCell
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti112 – 1121R → C in HTX2; complete loss of activity; abnormal cell surface localization. 1 Publication
VAR_024323
Transposition of the great arteries dextro-looped 2 (DTGA2) [MIM:613853]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi191 – 22333LRPDA…LGHRL → VVVVV: Does not affect the cellular localization and the biological activity. Add
BLAST
Mutagenesisi191 – 22333Missing: Increased NODAL dependent signaling. Add
BLAST

Keywords - Diseasei

Disease mutation, Heterotaxy

Organism-specific databases

MIMi217095. phenotype.
605376. phenotype.
613853. phenotype.
Orphaneti244283. Biliary atresia with splenic malformation syndrome.
860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
157769. Situs ambiguus.
PharmGKBiPA134916180.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525 Reviewed predictionAdd
BLAST
Chaini26 – 158133Cryptic proteinPRO_0000044630Add
BLAST
Propeptidei159 – 22365Removed in mature formPRO_0000395407Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi52 – 521N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi90 ↔ 97 By similarity
Disulfide bondi91 ↔ 103 By similarity
Disulfide bondi105 ↔ 114 By similarity
Lipidationi158 – 1581GPI-anchor amidated aspartate1 Publication

Post-translational modificationi

N-glycosylated By similarity.

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PRIDEiP0CG37.

Expressioni

Gene expression databases

BgeeiP0CG37.

Organism-specific databases

HPAiHPA041773.

Structurei

3D structure databases

ProteinModelPortaliP0CG37.
SMRiP0CG37. Positions 89-115.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini86 – 11530EGF-likeAdd
BLAST

Sequence similaritiesi

Contains 1 EGF-like domain.

Keywords - Domaini

EGF-like domain, Signal

Phylogenomic databases

OMAiPRCCENG.
OrthoDBiEOG7TJ3KK.
PhylomeDBiP0CG37.
TreeFamiTF333187.

Family and domain databases

InterProiIPR019011. Cryptic/Cripto_CFC-dom.
IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
[Graphical view]
PfamiPF09443. CFC. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 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

MTWRHHVRLL FTVSLALQII NLGNSYQREK HNGGREEVTK VATQKHRQSP    50
LNWTSSHFGE VTGSAEGWGP EEPLPYSRAF GEGASARPRC CRNGGTCVLG 100
SFCVCPAHFT GRYCEHDQRR SECGALEHGA WTLRACHLCR CIFGALHCLP 150
LQTPDRCDPK DFLASHAHGP SAGGAPSLLL LLPCALLHRL LRPDAPAHPR 200
SLVPSVLQRE RRPCGRPGLG HRL 223
Length:223
Mass (Da):24,612
Last modified:July 13, 2010 - v1
Checksum:iB52852A00ABCF1A3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781R → W.2 Publications
Corresponds to variant rs2579433 [ dbSNP | Ensembl ].
VAR_024322
Natural varianti112 – 1121R → C in HTX2; complete loss of activity; abnormal cell surface localization. 1 Publication
VAR_024323
Natural varianti189 – 1891R → C.1 Publication
VAR_024324

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc031rpc.1. human.

Polymorphism databases

DMDMi300680886.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2162.1.
RefSeqi NP_001257349.1. NM_001270420.1.
NP_001257350.1. NM_001270421.1.
NP_115934.1. NM_032545.3.
UniGenei Hs.567542.

3D structure databases

ProteinModelPortali P0CG37.
SMRi P0CG37. Positions 89-115.
ModBasei Search...
MobiDBi Search...

Polymorphism databases

DMDMi 300680886.

Proteomic databases

PRIDEi P0CG37.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000259216 ; ENSP00000259216 ; ENSG00000136698 .
GeneIDi 55997.
KEGGi hsa:55997.
UCSCi uc031rpc.1. human.

Organism-specific databases

CTDi 55997.
GeneCardsi GC02M131350.
HGNCi HGNC:18292. CFC1.
HPAi HPA041773.
MIMi 217095. phenotype.
605194. gene.
605376. phenotype.
613853. phenotype.
neXtProti NX_P0CG37.
Orphaneti 244283. Biliary atresia with splenic malformation syndrome.
860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
157769. Situs ambiguus.
PharmGKBi PA134916180.
GenAtlasi Search...

Phylogenomic databases

OMAi PRCCENG.
OrthoDBi EOG7TJ3KK.
PhylomeDBi P0CG37.
TreeFami TF333187.

Enzyme and pathway databases

Reactomei REACT_111057. Signaling by NODAL.
REACT_111059. Regulation of signaling by NODAL.

Miscellaneous databases

GenomeRNAii 55997.
NextBioi 61435.
PROi P0CG37.
SOURCEi Search...

Gene expression databases

Bgeei P0CG37.

Family and domain databases

InterProi IPR019011. Cryptic/Cripto_CFC-dom.
IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
[Graphical view ]
Pfami PF09443. CFC. 1 hit.
[Graphical view ]
SMARTi SM00181. EGF. 1 hit.
[Graphical view ]
PROSITEi PS00022. EGF_1. 1 hit.
PS50026. EGF_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects."
    Bamford R.N., Roessler E., Burdine R.D., Saplakoglu U., dela Cruz J., Splitt M., Towbin J., Bowers P., Marino B., Schier A.F., Shen M.M., Muenke M., Casey B.
    Nat. Genet. 26:365-369(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, VARIANT HTX2 CYS-112, CHARACTERIZATION OF VARIANT HTX2 CYS-112, VARIANTS TRP-78 AND CYS-189.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Subthalamic nucleus.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Lung.
  5. "Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension."
    Watanabe K., Nagaoka T., Strizzi L., Mancino M., Gonzales M., Bianco C., Salomon D.S.
    Biochim. Biophys. Acta 1778:2671-2681(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GPI-ANCHOR AT ASP-158, MUTAGENESIS OF 151-GLY--LEU-223.
  6. "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle."
    Goldmuntz E., Bamford R., Karkera J.D., dela Cruz J., Roessler E., Muenke M.
    Am. J. Hum. Genet. 70:776-780(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TRP-78, INVOLVEMENT IN DTGA2 AND CTHM.

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: September 3, 2014
This is version 39 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 (1 Publication and 1 Publication).

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

External Data

Dasty 3

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