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Aliases for CTHRC1 Gene

Aliases for CTHRC1 Gene

  • Collagen Triple Helix Repeat Containing 1 2 3 5
  • 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/Esophageal Adenocarcinoma and Adenocarcinoma. Among its related pathways are Noncanonical Wnt signaling pathway and Wnt signaling network. 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.

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

Genomics for CTHRC1 Gene

Regulatory Elements for CTHRC1 Gene

Enhancers for CTHRC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F103342 1.4 FANTOM5 Ensembl ENCODE 19.4 -26.9 -26861 3.7 JUN SIN3A EP300 JUND GATA3 SCRT2 FOS MAFK CTHRC1 FZD6 DCAF13 ENSG00000266289 BAALC-AS1 GC08P103357 GC08P103328
GH08F103346 0.8 FANTOM5 Ensembl ENCODE 19.2 -22.8 -22799 3.7 JUN BACH1 SIN3A CEBPG ZNF384 ZIC2 ZBTB40 FOSL1 GATA2 CBX5 FZD6 CTHRC1 BAALC-AS1 RNU6-1011P LINC01181 DCAF13 ENSG00000266289 ATP6V1C1 AZIN1 SLC25A32
GH08F103341 0.2 ENCODE 18.4 -29.7 -29721 0.5 HLF CEBPB CTHRC1 GC08P103328 GC08P103357
GH08F103336 1 Ensembl ENCODE 18.1 -34.9 -34909 1.2 PKNOX1 MTA2 L3MBTL2 CEBPG BMI1 EP300 JUND CBX5 EED IKZF1 CTHRC1 RNU6-1011P LINC01181 GC08P103328 GC08P103357
GH08F103337 0.9 Ensembl ENCODE 11.6 -33.6 -33609 0.6 PKNOX1 GLIS1 FEZF1 CTHRC1 RNU6-1011P FZD6 BAALC-AS1 GC08P103328 GC08P103357
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CTHRC1 on UCSC Golden Path with GeneCards custom track

Promoters for CTHRC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001398298 492 2000 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 DNMT3B RAD21 RARA EGR1 RCOR1
ENSR00001903969 1991 201 CTCF ZNF654 CHD1 TRIM22 ZNF384 RAD21 ZBTB40 MBD1 ZNF143 SMC3

Genomic Location for CTHRC1 Gene

Chromosome:
8
Start:
103,371,509 bp from pter
End:
103,383,005 bp from pter
Size:
11,497 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

Antibody Products

  • Cloud-Clone Corp. Antibodies for CTHRC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for CTHRC1

No data available for DME Specific Peptides for CTHRC1 Gene

Domains & Families for CTHRC1 Gene

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

Q96CG8

UniProtKB/Swiss-Prot:

CTHR1_HUMAN :
  • Contains 1 collagen-like domain.
Domain:
  • Contains 1 collagen-like domain.
genes like me logo Genes that share domains with CTHRC1: view

No data available for Gene Families 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.

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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for CTHRC1 Gene COMPARTMENTS Subcellular localization image for CTHRC1 gene
Compartment Confidence
extracellular 5
nucleus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CTHRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
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

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

Transcripts for CTHRC1 Gene

Unigene Clusters for CTHRC1 Gene

Collagen triple helix repeat containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CTHRC1 Gene

GeneLoc Exon Structure for
CTHRC1
ECgene alternative splicing isoforms for
CTHRC1

Expression for CTHRC1 Gene

mRNA expression in normal human tissues 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:

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.
genes like me logo Genes that share expression patterns with CTHRC1: view

Primer Products

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 34 35
  • 99.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CTHRC1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTHRC1 34 35
  • 92.78 (n)
cow
(Bos Taurus)
Mammalia CTHRC1 34 35
  • 91.08 (n)
mouse
(Mus musculus)
Mammalia Cthrc1 34 16 35
  • 87.65 (n)
rat
(Rattus norvegicus)
Mammalia Cthrc1 34
  • 87.38 (n)
oppossum
(Monodelphis domestica)
Mammalia CTHRC1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTHRC1 34 35
  • 76.59 (n)
lizard
(Anolis carolinensis)
Reptilia CTHRC1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cthrc1 34
  • 74.3 (n)
zebrafish
(Danio rerio)
Actinopterygii cthrc1b 35
  • 72 (a)
OneToMany
cthrc1a 34 35
  • 71 (n)
Dr.18064 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4412 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CTHRC1 (if available)
TreeFam:
Gene Tree for CTHRC1 (if available)

Paralogs for CTHRC1 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs387907029 Pathogenic 103,371,787(+) CCGGC(A/C)GAGGG upstream-variant-2KB, reference, missense
rs10588869 -- 103,381,488(+) AAGAC(-/TT)TGGTA intron-variant
rs111649208 -- 103,378,138(+) CATTC(A/G)ATGGA intron-variant, reference, missense
rs111939848 -- 103,370,903(+) CGGAG(C/T)TTGCA upstream-variant-2KB
rs112828805 -- 103,374,807(+) GACTC(C/T)TTATT intron-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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
barrett esophagus/esophageal adenocarcinoma
  • esophageal cancer
adenocarcinoma
  • adenocarcinoma nos
- 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.

Relevant External Links for CTHRC1

Genetic Association Database (GAD)
CTHRC1
Human Genome Epidemiology (HuGE) Navigator
CTHRC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTHRC1
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. (Circ. Res. 2005) 2 3 4 64
  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 64
  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 Genet. 2009) 3 46 64
  4. Aberrant expression of collagen triple helix repeat containing 1 in human solid cancers. (PMID: 16778098) Tang L. … Zhou Y. (Clin. Cancer Res. 2006) 3 22 64
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4 64

Products for CTHRC1 Gene

Sources for CTHRC1 Gene

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