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] See more...

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 4
  • CTHRC1 5

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 Wnt signaling network and Noncanonical Wnt signaling pathway. Gene Ontology (GO) annotations related to this gene include frizzled binding and Wnt-protein binding. An important paralog of this gene is METTL24.

UniProtKB/Swiss-Prot Summary for CTHRC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTHRC1 Gene

Genomics for CTHRC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTHRC1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTHRC1

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

Genomic Locations for CTHRC1 Gene

Genomic Locations for CTHRC1 Gene
chr8:103,371,538-103,382,989
(GRCh38/hg38)
Size:
11,452 bases
Orientation:
Plus strand
chr8:104,383,743-104,395,225
(GRCh37/hg19)
Size:
11,483 bases
Orientation:
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:
    Q96CG8-CTHR1_HUMAN
    Recommended name:
    Collagen triple helix repeat-containing protein 1
    Protein Accession:
    Q96CG8
    Secondary Accessions:
    • G3V141
    • Q6UW91
    • Q8IX63

    Protein attributes for CTHRC1 Gene

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

    Alternative splice isoforms for CTHRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTHRC1 Gene

Post-translational modifications for CTHRC1 Gene

Other Protein References for CTHRC1 Gene

Protein Products

  • Signalway Proteins for CTHRC1
  • Abcam proteins for CTHRC1

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

Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
ProtoNet:

Suggested Antigen Peptide Sequences for CTHRC1 Gene

GenScript: Design optimal peptide antigens:
  • Protein NMTC1 (CTHR1_HUMAN)
genes like me logo Genes that share domains with CTHRC1: view

No data available for Graphical View of Domain Structure and 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:0005201 extracellular matrix structural constituent RCA 28675934
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTHRC1

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

COMPARTMENTS
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 3
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 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 HDA 27068509
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 18467647
GO:0005737 cytoplasm IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with CTHRC1: view

Pathways & Interactions for CTHRC1 Gene

PathCards logo

SuperPathways 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

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTHRC1

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

No ASD Table

Relevant External Links for CTHRC1 Gene

GeneLoc Exon Structure for
CTHRC1

Expression for CTHRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTHRC1

SOURCE GeneReport for Unigene cluster for CTHRC1 Gene:

Hs.405614

mRNA Expression by UniProt/SwissProt for CTHRC1 Gene:

Q96CG8-CTHR1_HUMAN
Tissue specificity: Isoform 1 is expressed in calcified atherosclerotic plaque and chondrocyte-like cells.

Evidence on tissue expression from TISSUES for CTHRC1 Gene

  • Kidney(4.4)
  • Intestine(2.2)
  • Lymph node(2.1)
  • Muscle(2.1)
  • Skin(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • nervous
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
Abdomen:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia CTHRC1 30 31
  • 99.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CTHRC1 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CTHRC1 30 31
  • 92.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTHRC1 30 31
  • 91.08 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cthrc1 30 17 31
  • 87.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cthrc1 30
  • 87.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia CTHRC1 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTHRC1 30 31
  • 76.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CTHRC1 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cthrc1 30
  • 74.3 (n)
Zebrafish
(Danio rerio)
Actinopterygii cthrc1b 31
  • 72 (a)
OneToMany
cthrc1a 30 31
  • 71 (n)
OneToMany
Dr.18064 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4412 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
Species where no ortholog for CTHRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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

Paralogs for CTHRC1 Gene

Paralogs for CTHRC1 Gene

Pseudogenes.org Pseudogenes for CTHRC1 Gene

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

Variants for CTHRC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTHRC1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs387907029 Pathogenic: Barrett esophagus/esophageal adenocarcinoma. - 103,371,787(+) A/Cp.Gln44Pro MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CTHRC1 Gene

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)
CTHRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTHRC1

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

Disorders for CTHRC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
barrett esophagus
  • barrett metaplasia
adenocarcinoma
  • adenocarcinomas
esophagitis
  • acute esophagitis
dysbaric osteonecrosis
  • caisson disease of bone
gastroesophageal reflux
  • ger
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTHR1_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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
  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 41
  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 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for CTHRC1 Gene

  • Signalway ELISA kits for CTHRC1
  • Signalway Proteins for CTHRC1

Sources for CTHRC1 Gene