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Aliases for CTHRC1 Gene

Aliases for CTHRC1 Gene

  • Collagen Triple Helix Repeat Containing 1 2 3 5
  • Collagen Triple Helix Repeat-Containing Protein 1 3
  • Protein NMTC1 4

External Ids for CTHRC1 Gene

Previous GeneCards Identifiers for CTHRC1 Gene

  • GC08P103389
  • GC08P104451
  • GC08P104052
  • GC08P104343
  • GC08P104344
  • GC08P104452
  • GC08P104384
  • GC08P099584

Summaries for CTHRC1 Gene

Entrez Gene Summary for CTHRC1 Gene

  • This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

GeneCards Summary for CTHRC1 Gene

CTHRC1 (Collagen Triple Helix Repeat Containing 1) is a Protein Coding gene. Diseases associated with CTHRC1 include Barrett Esophagus and Adenocarcinoma. Among its related pathways are Noncanonical Wnt signaling pathway and Wnt signaling network. Gene Ontology (GO) annotations related to this gene include frizzled binding and Wnt-protein binding.

UniProtKB/Swiss-Prot for CTHRC1 Gene

  • May act as a negative regulator of collagen matrix deposition.

Additional gene information for CTHRC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTHRC1 Gene

Genomics for CTHRC1 Gene

GeneHancer (GH) Regulatory Elements for CTHRC1 Gene

Promoters and enhancers for CTHRC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J103371 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 655.1 +0.9 895 2.8 PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 ZNF143 FOS CTHRC1 DCAF13 BAALC-AS1 FZD6 LINC01181 SLC25A32 ENSG00000266289 GC08P103328
GH08J103346 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 19.3 -22.8 -22799 3.7 JUN HLF DACH1 ZIC2 JUND POLR2A SCRT2 GLIS1 FOS FZD6 CTHRC1 BAALC-AS1 RNU6-1011P LINC01181 DCAF13 ENSG00000266289 ATP6V1C1 AZIN1 SLC25A32
GH08J103336 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.1 -34.8 -34808 1 STAT5A EBF1 BMI1 POLR2A NFATC1 EED ETV6 IKZF2 CREM RUNX3 CTHRC1 RNU6-1011P LINC01181 GC08P103328 GC08P103357
GH08J103342 Enhancer 1 FANTOM5 Ensembl ENCODE 19.4 -26.9 -26860 3.7 GATA3 JUND POLR2A JUN SCRT2 FOSL2 FOS EP300 CTHRC1 FZD6 DCAF13 ENSG00000266289 BAALC-AS1 GC08P103357 GC08P103328
GH08J103297 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 6.7 -72.4 -72408 2.6 SIN3A ZBTB7B BRCA1 ZNF48 SP3 MXD4 REST ZNF592 MXD3 SP7 FZD6 BAALC-AS1 LOC105369147 UBR5 CTHRC1 ENSG00000266289 DCAF13 GC08P103328
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTHRC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTHRC1 gene promoter:
  • FOXD3
  • GR-beta
  • GR-alpha
  • GR
  • AML1a
  • AP-4
  • NRSF form 2
  • NRSF form 1
  • ATF6
  • c-Myc

Genomic Locations for CTHRC1 Gene

Genomic Locations for CTHRC1 Gene
11,497 bases
Plus strand
11,483 bases
Plus strand

Genomic View for CTHRC1 Gene

Genes around CTHRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTHRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTHRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTHRC1 Gene

Proteins for CTHRC1 Gene

  • Protein details for CTHRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen triple helix repeat-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • G3V141
    • Q6UW91
    • Q8IX63

    Protein attributes for CTHRC1 Gene

    243 amino acids
    Molecular mass:
    26224 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CTHRC1 Gene


neXtProt entry for CTHRC1 Gene

Post-translational modifications for CTHRC1 Gene

Other Protein References for CTHRC1 Gene

No data available for DME Specific Peptides for CTHRC1 Gene

Domains & Families for CTHRC1 Gene

Gene Families for CTHRC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CTHRC1 Gene

Suggested Antigen Peptide Sequences for CTHRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CTHRC1: view

No data available for UniProtKB/Swiss-Prot for CTHRC1 Gene

Function for CTHRC1 Gene

Molecular function for CTHRC1 Gene

UniProtKB/Swiss-Prot Function:
May act as a negative regulator of collagen matrix deposition.

Phenotypes From GWAS Catalog for CTHRC1 Gene

Gene Ontology (GO) - Molecular Function for CTHRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005109 frizzled binding IEA --
GO:0017147 Wnt-protein binding IEA --
genes like me logo Genes that share ontologies with CTHRC1: view
genes like me logo Genes that share phenotypes with CTHRC1: view

Human Phenotype Ontology for CTHRC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTHRC1 Gene

MGI Knock Outs for CTHRC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTHRC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CTHRC1 Gene

Localization for CTHRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTHRC1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTHRC1 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTHRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA 27068509
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 18467647
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CTHRC1: view

Pathways & Interactions for CTHRC1 Gene

genes like me logo Genes that share pathways with CTHRC1: view

Pathways by source for CTHRC1 Gene

2 BioSystems pathways for CTHRC1 Gene

Interacting Proteins for CTHRC1 Gene

Gene Ontology (GO) - Biological Process for CTHRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016477 cell migration IEA --
GO:0032092 positive regulation of protein binding IEA --
GO:0033690 positive regulation of osteoblast proliferation IEA --
GO:0043932 ossification involved in bone remodeling IEA --
GO:0045669 positive regulation of osteoblast differentiation IEA --
genes like me logo Genes that share ontologies with CTHRC1: view

No data available for SIGNOR curated interactions for CTHRC1 Gene

Drugs & Compounds for CTHRC1 Gene

No Compound Related Data Available

Transcripts for CTHRC1 Gene

mRNA/cDNA for CTHRC1 Gene

Unigene Clusters for CTHRC1 Gene

Collagen triple helix repeat containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTHRC1 Gene

No ASD Table

Relevant External Links for CTHRC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTHRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTHRC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTHRC1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.9) and Artery - Aorta (x4.2).

Protein differential expression in normal tissues from HIPED for CTHRC1 Gene

This gene is overexpressed in Bone marrow stromal cell (22.6), Uterus (7.8), Monocytes (6.6), and Bone marrow mesenchymal stem cell (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTHRC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CTHRC1 Gene:


SOURCE GeneReport for Unigene cluster for CTHRC1 Gene:


mRNA Expression by UniProt/SwissProt for CTHRC1 Gene:

Tissue specificity: Isoform 1 is expressed in calcified atherosclerotic plaque and chondrocyte-like cells.

Evidence on tissue expression from TISSUES for CTHRC1 Gene

  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTHRC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • digestive
  • nervous
Head and neck:
  • brain
  • head
  • esophagus
  • stomach
genes like me logo Genes that share expression patterns with CTHRC1: view

No data available for Protein tissue co-expression partners for CTHRC1 Gene

Orthologs for CTHRC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CTHRC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTHRC1 34 33
  • 99.73 (n)
(Ornithorhynchus anatinus)
Mammalia CTHRC1 34
  • 96 (a)
(Canis familiaris)
Mammalia CTHRC1 34 33
  • 92.78 (n)
(Bos Taurus)
Mammalia CTHRC1 34 33
  • 91.08 (n)
(Mus musculus)
Mammalia Cthrc1 16 34 33
  • 87.65 (n)
(Rattus norvegicus)
Mammalia Cthrc1 33
  • 87.38 (n)
(Monodelphis domestica)
Mammalia CTHRC1 34
  • 86 (a)
(Gallus gallus)
Aves CTHRC1 34 33
  • 76.59 (n)
(Anolis carolinensis)
Reptilia CTHRC1 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cthrc1 33
  • 74.3 (n)
(Danio rerio)
Actinopterygii cthrc1b 34
  • 72 (a)
cthrc1a 34 33
  • 71 (n)
Dr.18064 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4412 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
Species where no ortholog for CTHRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CTHRC1 Gene

Gene Tree for CTHRC1 (if available)
Gene Tree for CTHRC1 (if available)
Evolutionary constrained regions (ECRs) for CTHRC1: view image

Paralogs for CTHRC1 Gene Pseudogenes for CTHRC1 Gene

genes like me logo Genes that share paralogs with CTHRC1: view

No data available for Paralogs for CTHRC1 Gene

Variants for CTHRC1 Gene

Sequence variations from dbSNP and Humsavar for CTHRC1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs387907029 pathogenic, Barrett esophagus/esophageal adenocarcinoma 103,371,787(+) A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1000194128 -- 103,371,544(+) C/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000206159 -- 103,380,349(+) A/G intron_variant
rs1000209899 -- 103,378,852(+) AAAAAAAA/AAAAAAAAA intron_variant
rs1001036925 -- 103,375,775(+) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CTHRC1 Gene

Variant ID Type Subtype PubMed ID
dgv7279n100 CNV gain 25217958
esv2625329 CNV deletion 19546169

Variation tolerance for CTHRC1 Gene

Residual Variation Intolerance Score: 74.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTHRC1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTHRC1 Gene

Disorders for CTHRC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CTHRC1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
barrett esophagus
  • cle
  • adenocarcinomas
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:21791690}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for CTHRC1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CTHRC1: view

No data available for Genatlas for CTHRC1 Gene

Publications for CTHRC1 Gene

  1. Collagen triple helix repeat containing 1, a novel secreted protein in injured and diseased arteries, inhibits collagen expression and promotes cell migration. (PMID: 15618538) Pyagay P … Lindner V (Circulation research 2005) 2 3 4 58
  2. Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. (PMID: 21791690) Orloff M … Eng C (JAMA 2011) 3 4 58
  3. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I … Robledo M (PLoS genetics 2009) 3 44 58
  4. Aberrant expression of collagen triple helix repeat containing 1 in human solid cancers. (PMID: 16778098) Tang L … Zhou Y (Clinical cancer research : an official journal of the American Association for Cancer Research 2006) 3 22 58
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58

Products for CTHRC1 Gene

Sources for CTHRC1 Gene

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