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P0CG37

- CFC1_HUMAN

UniProt

P0CG37 - CFC1_HUMAN

Protein

Cryptic protein

Gene

CFC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 40 (01 Oct 2014)
      Sequence version 1 (13 Jul 2010)
      Previous versions | rss
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    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

    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 1 Publication; Lipid-anchorGPI-anchor 1 Publication. Secreted 1 Publication
    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.

    GO - Cellular componenti

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi191 – 22333LRPDA…LGHRL → VVVVV: Does not affect the cellular localization and the biological activity. 1 PublicationAdd
    BLAST
    Mutagenesisi191 – 22333Missing: Increased NODAL dependent signaling. 1 PublicationAdd
    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 – 2525Sequence AnalysisAdd
    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...)Sequence Analysis
    Disulfide bondi90 ↔ 97PROSITE-ProRule annotation
    Disulfide bondi91 ↔ 103PROSITE-ProRule annotation
    Disulfide bondi105 ↔ 114PROSITE-ProRule annotation
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini86 – 11530EGF-likePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 EGF-like domain.PROSITE-ProRule annotation

    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

    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: October 1, 2014
    This is version 40 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

    External Data

    Dasty 3