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Protein

Collagen triple helix repeat-containing protein 1

Gene

CTHRC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000164932.12
HGNCiHGNC:18831 CTHRC1
MIMi610635 gene
neXtProtiNX_Q96CG8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ96CG8
PaxDbiQ96CG8
PeptideAtlasiQ96CG8
PRIDEiQ96CG8
ProteomicsDBi76186
76187 [Q96CG8-2]

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 Expressed in 179 organ(s), highest expression level in visceral pleura
CleanExiHS_CTHRC1
ExpressionAtlasiQ96CG8 baseline and differential
GenevisibleiQ96CG8 HS

Organism-specific databases

HPAiHPA059806
HPA061896

Interactioni

GO - Molecular functioni

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

Keywords - Domaini

Collagen, Signal

Phylogenomic databases

eggNOGiENOG410IHSA Eukaryota
ENOG4111TT8 LUCA
GeneTreeiENSGT00390000018094
HOGENOMiHOG000237344
HOVERGENiHBG051218
InParanoidiQ96CG8
OMAiSACCQRW
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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EVQ5E7EVQ5_HUMAN
Collagen triple helix repeat-contai...
CTHRC1
147Annotation score:
E5RK99E5RK99_HUMAN
Collagen triple helix repeat-contai...
CTHRC1
113Annotation score:

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 dbSNP:rs387907029EnsemblClinVar.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

Similar proteinsi

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
ProteomicsDBi76186
76187 [Q96CG8-2]

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
EuPathDBiHostDB:ENSG00000164932.12
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
OMAiSACCQRW
OrthoDBiEOG091G0HRY
PhylomeDBiQ96CG8
TreeFamiTF328705

Miscellaneous databases

ChiTaRSiCTHRC1 human
GenomeRNAii115908
PROiPR:Q96CG8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164932 Expressed in 179 organ(s), highest expression level in visceral pleura
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 historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: December 1, 2001
Last modified: October 10, 2018
This is version 128 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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Main funding by: National Institutes of Health

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