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Aliases for CTHRC1 Gene

Aliases for CTHRC1 Gene

  • Collagen Triple Helix Repeat Containing 1 2 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/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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CTHRC1 Gene

Start:
103,371,515 bp from pter
End:
103,383,005 bp from pter
Size:
11,491 bases
Orientation:
Plus strand

Genomic View for CTHRC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CTHRC1 Gene at MOPED

Post-translational modifications for CTHRC1 Gene

Other Protein References for CTHRC1 Gene

Antibody Products

No data available for DME Specific Peptides for CTHRC1 Gene

Domains 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 :
  • Q96CG8
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:0005515 protein binding --
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

Animal Models for CTHRC1 Gene

MGI Knock Outs for CTHRC1:

Animal Model Products

CRISPR Products

miRNA for CTHRC1 Gene

miRTarBase miRNAs that target CTHRC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
lysosome 1

Gene Ontology (GO) - Cellular Components for CTHRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 18467647
GO:0005737 cytoplasm IEA --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with CTHRC1: view

Pathways 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

Transcripts for CTHRC1 Gene

Unigene Clusters for CTHRC1 Gene

Collagen triple helix repeat containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTHRC1

Primer 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 (4.9) and Artery - Aorta (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for CTHRC1 Gene

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 expressions with CTHRC1: view

In Situ Assay Products

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 35
  • 99.73 (n)
  • 100 (a)
CTHRC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTHRC1 35
  • 91.08 (n)
  • 95.47 (a)
CTHRC1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTHRC1 35
  • 92.78 (n)
  • 99.01 (a)
CTHRC1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cthrc1 35
  • 87.65 (n)
  • 94.24 (a)
Cthrc1 16
Cthrc1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTHRC1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTHRC1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cthrc1 35
  • 87.38 (n)
  • 95.06 (a)
chicken
(Gallus gallus)
Aves CTHRC1 35
  • 76.59 (n)
  • 87.44 (a)
CTHRC1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTHRC1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cthrc1 35
  • 74.3 (n)
  • 83.18 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4412 35
zebrafish
(Danio rerio)
Actinopterygii cthrc1a 35
  • 71 (n)
  • 82 (a)
cthrc1a 36
  • 74 (a)
OneToMany
cthrc1b 36
  • 72 (a)
OneToMany
Dr.18064 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for CTHRC1:
  • 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 MAF
rs827600 -- 103,370,122(-) CACCA(C/G)GTAGG upstream-variant-2KB
rs2575689 -- 103,379,422(-) aaata(A/G)aacaa intron-variant
rs2575690 -- 103,377,464(-) TTTTA(C/T)CAAAA intron-variant
rs2575691 -- 103,377,408(-) CTCTT(G/T)TTTTT intron-variant
rs2575692 -- 103,377,144(-) GGTCT(A/T)TGCAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2625329 CNV Deletion 19546169

Relevant External Links for CTHRC1 Gene

HapMap Linkage Disequilibrium report
CTHRC1
Human Gene Mutation Database (HGMD)
CTHRC1

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

Disorders for CTHRC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for CTHRC1 Gene including...

Search for CTHRC1 Gene in MalaCards »

(1) OMIM Diseases for CTHRC1 Gene (610635)

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

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
  2. Aberrant expression of collagen triple helix repeat containing 1 in human solid cancers. (PMID: 16778098) Tang L. … Zhou Y. (Clin. Cancer Res. 2006) 3 23
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CTHRC1 Gene

Sources for CTHRC1 Gene

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