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Q96CG8

- CTHR1_HUMAN

UniProt

Q96CG8 - CTHR1_HUMAN

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Protein
Collagen triple helix repeat-containing protein 1
Gene
CTHRC1, UNQ762/PRO1550
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

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

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
Complete GO annotation...

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi614266. phenotype.
Orphaneti1232. Barrett esophagus.
PharmGKBiPA38701.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 30301 Publication
Add
BLAST
Chaini31 – 243213Collagen triple helix repeat-containing protein 1
PRO_0000021038Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

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

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.
VSP_013622Add
BLAST
Alternative sequencei243 – 2431K → IYML in isoform 2.
VSP_013623

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti73 – 731G → V in AAQ89273. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 100 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

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