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Protein

Collagen triple helix repeat-containing protein 1

Gene

CTHRC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164932-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:18831. CTHRC1.

Subcellular locationi

GO - Cellular componenti

  • collagen trimer Source: UniProtKB-KW
  • cytoplasm Source: Ensembl
  • extracellular space Source: MGI
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Barrett esophagus (BE)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614266

Organism-specific databases

DisGeNETi115908.
MalaCardsiCTHRC1.
MIMi614266. phenotype.
OpenTargetsiENSG00000164932.
Orphaneti1232. Barrett esophagus.
PharmGKBiPA38701.

Polymorphism and mutation databases

BioMutaiCTHRC1.
DMDMi67462315.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 30Add BLAST30
ChainiPRO_000002103831 – 243Collagen triple helix repeat-containing protein 1Add BLAST213

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi186N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ96CG8.
PaxDbiQ96CG8.
PeptideAtlasiQ96CG8.
PRIDEiQ96CG8.

PTM databases

iPTMnetiQ96CG8.
PhosphoSitePlusiQ96CG8.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000164932.
CleanExiHS_CTHRC1.
ExpressionAtlasiQ96CG8. baseline and differential.
GenevisibleiQ96CG8. HS.

Organism-specific databases

HPAiHPA059806.
HPA061896.

Interactioni

Protein-protein interaction databases

BioGridi125461. 1 interactor.
IntActiQ96CG8. 2 interactors.
STRINGi9606.ENSP00000330523.

Structurei

3D structure databases

ProteinModelPortaliQ96CG8.
SMRiQ96CG8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 90Collagen-likeAdd BLAST34

Sequence similaritiesi

Contains 1 collagen-like domain.Curated

Keywords - Domaini

Collagen, Signal

Phylogenomic databases

eggNOGiENOG410IHSA. Eukaryota.
ENOG4111TT8. LUCA.
GeneTreeiENSGT00390000018094.
HOGENOMiHOG000237344.
HOVERGENiHBG051218.
InParanoidiQ96CG8.
OMAiVDIAIWV.
OrthoDBiEOG091G0HRY.
PhylomeDBiQ96CG8.
TreeFamiTF328705.

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. AlignAdd to basket

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

        10         20         30         40         50
MRPQGPAASP QRLRGLLLLL LLQLPAPSSA SEIPKGKQKA QLRQREVVDL
60 70 80 90 100
YNGMCLQGPA GVPGRDGSPG ANGIPGTPGI PGRDGFKGEK GECLRESFEE
110 120 130 140 150
SWTPNYKQCS WSSLNYGIDL GKIAECTFTK MRSNSALRVL FSGSLRLKCR
160 170 180 190 200
NACCQRWYFT FNGAECSGPL PIEAIIYLDQ GSPEMNSTIN IHRTSSVEGL
210 220 230 240
CEGIGAGLVD VAIWVGTCSD YPKGDASTGW NSVSRIIIEE LPK
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)DescriptionActionsGraphical viewLength
Sequence conflicti73G → V in AAQ89273 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06658944Q → P Found in patients with Barrett esophagus. 1 PublicationCorresponds to variant rs387907029dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0136221 – 50MRPQG…EVVDL → MWPPGRSITVKLREKTVSRK LEMNGPSAFQGLICGK in isoform 2 and isoform 3. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_013623243K → IYML in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5. human. [Q96CG8-1]

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ96CG8.
SMRiQ96CG8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125461. 1 interactor.
IntActiQ96CG8. 2 interactors.
STRINGi9606.ENSP00000330523.

PTM databases

iPTMnetiQ96CG8.
PhosphoSitePlusiQ96CG8.

Polymorphism and mutation databases

BioMutaiCTHRC1.
DMDMi67462315.

Proteomic databases

MaxQBiQ96CG8.
PaxDbiQ96CG8.
PeptideAtlasiQ96CG8.
PRIDEiQ96CG8.

Protocols and materials databases

DNASUi115908.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330295; ENSP00000330523; ENSG00000164932. [Q96CG8-1]
ENST00000520337; ENSP00000430550; ENSG00000164932. [Q96CG8-3]
GeneIDi115908.
KEGGihsa:115908.
UCSCiuc003ylk.5. human. [Q96CG8-1]

Organism-specific databases

CTDi115908.
DisGeNETi115908.
GeneCardsiCTHRC1.
HGNCiHGNC:18831. CTHRC1.
HPAiHPA059806.
HPA061896.
MalaCardsiCTHRC1.
MIMi610635. gene.
614266. phenotype.
neXtProtiNX_Q96CG8.
OpenTargetsiENSG00000164932.
Orphaneti1232. Barrett esophagus.
PharmGKBiPA38701.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHSA. Eukaryota.
ENOG4111TT8. LUCA.
GeneTreeiENSGT00390000018094.
HOGENOMiHOG000237344.
HOVERGENiHBG051218.
InParanoidiQ96CG8.
OMAiVDIAIWV.
OrthoDBiEOG091G0HRY.
PhylomeDBiQ96CG8.
TreeFamiTF328705.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164932-MONOMER.

Miscellaneous databases

GenomeRNAii115908.
PROiQ96CG8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164932.
CleanExiHS_CTHRC1.
ExpressionAtlasiQ96CG8. baseline and differential.
GenevisibleiQ96CG8. HS.

Family and domain databases

ProtoNetiSearch...

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: November 2, 2016
This is version 117 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.