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Q96CG8

- CTHR1_HUMAN

UniProt

Q96CG8 - CTHR1_HUMAN

Protein

Collagen triple helix repeat-containing protein 1

Gene

CTHRC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    May act as a negative regulator of collagen matrix deposition.By similarity

    GO - Biological processi

    1. cell migration Source: Ensembl
    2. cochlea morphogenesis Source: Ensembl
    3. establishment of planar polarity involved in neural tube closure Source: Ensembl
    4. inner ear receptor stereocilium organization Source: Ensembl
    5. negative regulation of canonical Wnt signaling pathway Source: Ensembl
    6. ossification involved in bone remodeling Source: Ensembl
    7. positive regulation of osteoblast differentiation Source: Ensembl
    8. positive regulation of osteoblast proliferation Source: Ensembl
    9. positive regulation of protein binding Source: Ensembl
    10. Wnt signaling pathway, planar cell polarity pathway Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Collagen triple helix repeat-containing protein 1
    Alternative name(s):
    Protein NMTC1
    Gene namesi
    Name:CTHRC1
    ORF Names:UNQ762/PRO1550
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:18831. CTHRC1.

    Subcellular locationi

    GO - Cellular componenti

    1. collagen trimer Source: UniProtKB-KW
    2. cytoplasm Source: Ensembl
    3. extracellular space Source: MGI
    4. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Barrett esophagus (BE) [MIM:614266]: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi614266. phenotype.
    Orphaneti1232. Barrett esophagus.
    PharmGKBiPA38701.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3030Add
    BLAST
    Chaini31 – 243213Collagen triple helix repeat-containing protein 1PRO_0000021038Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi186 – 1861N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ96CG8.
    PaxDbiQ96CG8.
    PRIDEiQ96CG8.

    PTM databases

    PhosphoSiteiQ96CG8.

    Expressioni

    Tissue specificityi

    Isoform 1 is expressed in calcified atherosclerotic plaque and chondrocyte-like cells.1 Publication

    Gene expression databases

    ArrayExpressiQ96CG8.
    BgeeiQ96CG8.
    CleanExiHS_CTHRC1.
    GenevestigatoriQ96CG8.

    Organism-specific databases

    HPAiHPA059806.

    Interactioni

    Protein-protein interaction databases

    IntActiQ96CG8. 1 interaction.
    STRINGi9606.ENSP00000330523.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96CG8.
    SMRiQ96CG8. Positions 55-85.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini57 – 9034Collagen-likeAdd
    BLAST

    Sequence similaritiesi

    Contains 1 collagen-like domain.Curated

    Keywords - Domaini

    Collagen, Signal

    Phylogenomic databases

    eggNOGiNOG39409.
    HOGENOMiHOG000237344.
    HOVERGENiHBG051218.
    InParanoidiQ96CG8.
    OMAiLVDIAIW.
    OrthoDBiEOG79CZ0C.
    PhylomeDBiQ96CG8.
    TreeFamiTF328705.

    Family and domain databases

    InterProiIPR008160. Collagen.
    [Graphical view]
    PfamiPF01391. Collagen. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96CG8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRPQGPAASP QRLRGLLLLL LLQLPAPSSA SEIPKGKQKA QLRQREVVDL    50
    YNGMCLQGPA GVPGRDGSPG ANGIPGTPGI PGRDGFKGEK GECLRESFEE 100
    SWTPNYKQCS WSSLNYGIDL GKIAECTFTK MRSNSALRVL FSGSLRLKCR 150
    NACCQRWYFT FNGAECSGPL PIEAIIYLDQ GSPEMNSTIN IHRTSSVEGL 200
    CEGIGAGLVD VAIWVGTCSD YPKGDASTGW NSVSRIIIEE LPK 243
    Length:243
    Mass (Da):26,224
    Last modified:December 1, 2001 - v1
    Checksum:iA11FFEB1C66867F9
    GO
    Isoform 2 (identifier: Q96CG8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: MRPQGPAASP...QLRQREVVDL → MWPPGRSITV...SAFQGLICGK
         243-243: K → IYML

    Note: No experimental confirmation available.

    Show »
    Length:232
    Mass (Da):25,163
    Checksum:iE9D4BC30304837ED
    GO
    Isoform 3 (identifier: Q96CG8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-50: MRPQGPAASP...QLRQREVVDL → MWPPGRSITV...SAFQGLICGK

    Note: Gene prediction based on EST data.

    Show »
    Length:229
    Mass (Da):24,770
    Checksum:iA3504837EDE991E6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti73 – 731G → V in AAQ89273. (PubMed:12975309)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441Q → P Found in patients with Barrett esophagus. 1 Publication
    VAR_066589

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5050MRPQG…EVVDL → MWPPGRSITVKLREKTVSRK LEMNGPSAFQGLICGK in isoform 2 and isoform 3. 1 PublicationVSP_013622Add
    BLAST
    Alternative sequencei243 – 2431K → IYML in isoform 2. 1 PublicationVSP_013623

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY136825 mRNA. Translation: AAN15749.1.
    AF395488 mRNA. Translation: AAO17919.1.
    AY358914 mRNA. Translation: AAQ89273.1.
    AC012213 Genomic DNA. No translation available.
    AC069351 Genomic DNA. No translation available.
    CH471060 Genomic DNA. Translation: EAW91876.1.
    BC014245 mRNA. Translation: AAH14245.1.
    CCDSiCCDS59110.1. [Q96CG8-3]
    CCDS6299.1. [Q96CG8-1]
    RefSeqiNP_001243028.1. NM_001256099.1. [Q96CG8-3]
    NP_612464.1. NM_138455.3. [Q96CG8-1]
    UniGeneiHs.405614.

    Genome annotation databases

    EnsembliENST00000330295; ENSP00000330523; ENSG00000164932. [Q96CG8-1]
    ENST00000520337; ENSP00000430550; ENSG00000164932. [Q96CG8-3]
    GeneIDi115908.
    KEGGihsa:115908.
    UCSCiuc003ylk.4. human. [Q96CG8-1]
    uc031tbz.1. human.

    Polymorphism databases

    DMDMi67462315.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY136825 mRNA. Translation: AAN15749.1 .
    AF395488 mRNA. Translation: AAO17919.1 .
    AY358914 mRNA. Translation: AAQ89273.1 .
    AC012213 Genomic DNA. No translation available.
    AC069351 Genomic DNA. No translation available.
    CH471060 Genomic DNA. Translation: EAW91876.1 .
    BC014245 mRNA. Translation: AAH14245.1 .
    CCDSi CCDS59110.1. [Q96CG8-3 ]
    CCDS6299.1. [Q96CG8-1 ]
    RefSeqi NP_001243028.1. NM_001256099.1. [Q96CG8-3 ]
    NP_612464.1. NM_138455.3. [Q96CG8-1 ]
    UniGenei Hs.405614.

    3D structure databases

    ProteinModelPortali Q96CG8.
    SMRi Q96CG8. Positions 55-85.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q96CG8. 1 interaction.
    STRINGi 9606.ENSP00000330523.

    PTM databases

    PhosphoSitei Q96CG8.

    Polymorphism databases

    DMDMi 67462315.

    Proteomic databases

    MaxQBi Q96CG8.
    PaxDbi Q96CG8.
    PRIDEi Q96CG8.

    Protocols and materials databases

    DNASUi 115908.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330295 ; ENSP00000330523 ; ENSG00000164932 . [Q96CG8-1 ]
    ENST00000520337 ; ENSP00000430550 ; ENSG00000164932 . [Q96CG8-3 ]
    GeneIDi 115908.
    KEGGi hsa:115908.
    UCSCi uc003ylk.4. human. [Q96CG8-1 ]
    uc031tbz.1. human.

    Organism-specific databases

    CTDi 115908.
    GeneCardsi GC08P104384.
    HGNCi HGNC:18831. CTHRC1.
    HPAi HPA059806.
    MIMi 610635. gene.
    614266. phenotype.
    neXtProti NX_Q96CG8.
    Orphaneti 1232. Barrett esophagus.
    PharmGKBi PA38701.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39409.
    HOGENOMi HOG000237344.
    HOVERGENi HBG051218.
    InParanoidi Q96CG8.
    OMAi LVDIAIW.
    OrthoDBi EOG79CZ0C.
    PhylomeDBi Q96CG8.
    TreeFami TF328705.

    Miscellaneous databases

    GenomeRNAii 115908.
    NextBioi 79706.
    PROi Q96CG8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96CG8.
    Bgeei Q96CG8.
    CleanExi HS_CTHRC1.
    Genevestigatori Q96CG8.

    Family and domain databases

    InterProi IPR008160. Collagen.
    [Graphical view ]
    Pfami PF01391. Collagen. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Collagen triple helix repeat containing 1, a novel secreted protein in injured and diseased arteries, inhibits collagen expression and promotes cell migration."
      Pyagay P., Heroult M., Wang Q., Lehnert W., Belden J., Liaw L., Friesel R.E., Lindner V.
      Circ. Res. 96:261-268(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Aorta.
    2. "Novel polypeptide found in human cornea cDNA library."
      Sanuki N., Fujiki K., Kanai A., Tanaka Y., Iwata T.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 1).
      Tissue: Kidney.
    7. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 31-45 (ISOFORM 1).
    8. "Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma."
      Orloff M., Peterson C., He X., Ganapathi S., Heald B., Yang Y.R., Bebek G., Romigh T., Song J.H., Wu W., David S., Cheng Y., Meltzer S.J., Eng C.
      JAMA 306:410-419(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN BE, VARIANT PRO-44.

    Entry informationi

    Entry nameiCTHR1_HUMAN
    AccessioniPrimary (citable) accession number: Q96CG8
    Secondary accession number(s): G3V141, Q6UW91, Q8IX63
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2005
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 101 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

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: 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