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P0CG37 (CFC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 35. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cryptic protein
Alternative name(s):
Cryptic family protein 1
Gene names
Name:CFC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length223 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

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. Ref.5

Post-translational modification

N-glycosylated By similarity.

Involvement in disease

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. Ref.1

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. Ref.6

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. Ref.6

Sequence similarities

Contains 1 EGF-like domain.

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 (Ref.6 and Ref.1).

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2525 Potential
Chain26 – 158133Cryptic protein
PRO_0000044630
Propeptide159 – 22365Removed in mature form
PRO_0000395407

Regions

Domain86 – 11530EGF-like

Amino acid modifications

Lipidation1581GPI-anchor amidated aspartate Ref.5
Glycosylation521N-linked (GlcNAc...) Potential
Disulfide bond90 ↔ 97 By similarity
Disulfide bond91 ↔ 103 By similarity
Disulfide bond105 ↔ 114 By similarity

Natural variations

Natural variant781R → W. Ref.1 Ref.6
Corresponds to variant rs2579433 [ dbSNP | Ensembl ].
VAR_024322
Natural variant1121R → C in HTX2; complete loss of activity; abnormal cell surface localization. Ref.1
VAR_024323
Natural variant1891R → C. Ref.1
VAR_024324

Experimental info

Mutagenesis191 – 22333LRPDA…LGHRL → VVVVV: Does not affect the cellular localization and the biological activity.
Mutagenesis191 – 22333Missing: Increased NODAL dependent signaling.

Sequences

Sequence LengthMass (Da)Tools
P0CG37 [UniParc].

Last modified July 13, 2010. Version 1.
Checksum: B52852A00ABCF1A3

FASTA22324,612
        10         20         30         40         50         60 
MTWRHHVRLL FTVSLALQII NLGNSYQREK HNGGREEVTK VATQKHRQSP LNWTSSHFGE 

        70         80         90        100        110        120 
VTGSAEGWGP EEPLPYSRAF GEGASARPRC CRNGGTCVLG SFCVCPAHFT GRYCEHDQRR 

       130        140        150        160        170        180 
SECGALEHGA WTLRACHLCR CIFGALHCLP LQTPDRCDPK DFLASHAHGP SAGGAPSLLL 

       190        200        210        220 
LLPCALLHRL LRPDAPAHPR SLVPSVLQRE RRPCGRPGLG HRL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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, 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001257349.1. NM_001270420.1.
NP_001257350.1. NM_001270421.1.
NP_115934.1. NM_032545.3.
UniGeneHs.567542.

3D structure databases

ProteinModelPortalP0CG37.
SMRP0CG37. Positions 85-160.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM300680886.

Proteomic databases

PRIDEP0CG37.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000259216; ENSP00000259216; ENSG00000136698.
GeneID55997.
KEGGhsa:55997.
UCSCuc031rpc.1. human.

Organism-specific databases

CTD55997.
GeneCardsGC02M131350.
HGNCHGNC:18292. CFC1.
HPAHPA041773.
MIM217095. phenotype.
605194. gene.
605376. phenotype.
613853. phenotype.
neXtProtNX_P0CG37.
Orphanet244283. Biliary atresia with splenic malformation syndrome.
860. Congenitally uncorrected transposition of the great arteries.
3426. Double outlet right ventricle.
157769. Situs ambiguus.
PharmGKBPA134916180.
GenAtlasSearch...

Phylogenomic databases

OMAPRCCENG.
OrthoDBEOG7TJ3KK.
TreeFamTF333187.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

BgeeP0CG37.

Family and domain databases

InterProIPR019011. Cryptic/Cripto_CFC-dom.
IPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
[Graphical view]
PfamPF09443. CFC. 1 hit.
[Graphical view]
SMARTSM00181. EGF. 1 hit.
[Graphical view]
PROSITEPS00022. EGF_1. 1 hit.
PS50026. EGF_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55997.
NextBio61435.
PROP0CG37.
SOURCESearch...

Entry information

Entry nameCFC1_HUMAN
AccessionPrimary (citable) accession number: P0CG37
Secondary accession number(s): B2RCY0 expand/collapse secondary AC list , B9EJD3, Q53T05, Q9GZR3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 13, 2010
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 35 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM