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CTHRC1 collagen triple helix repeat containing 1 [ Homo sapiens (human) ]

Gene ID: 115908, updated on 3-Apr-2024

Summary

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Official Symbol
CTHRC1provided by HGNC
Official Full Name
collagen triple helix repeat containing 1provided by HGNC
Primary source
HGNC:HGNC:18831
See related
Ensembl:ENSG00000164932 MIM:610635; AllianceGenome:HGNC:18831
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Biased expression in gall bladder (RPKM 34.5), urinary bladder (RPKM 33.4) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
8q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (103371538..103382989)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (104499186..104510633)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (104383766..104395217)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369147 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:104292515-104293714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:104310702-104311202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:104311203-104311703 Neighboring gene frizzled class receptor 6 Neighboring gene small nucleolar RNA, C/D box 173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:104383426-104384220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:104384221-104385014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27790 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:104387700-104388269 Neighboring gene RNA, U6 small nuclear 1011, pseudogene Neighboring gene solute carrier family 25 member 32 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:104427001-104427622

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Elevated Levels of Plasma Collagen Triple Helix Repeat Containing 1 (CTHRC1) Are Strongly Associated with eGFR and Albuminuria in Chronic Kidney Disease. Baiken Y, et al. Medicina (Kaunas), 2023 Mar 24. PMID 37109608, Free PMC Article
  2. CTHRC1 Is Associated With Immune Escape and Poor Prognosis in Gastric Cancer. Hu Y, et al. Anticancer Res, 2023 Jan. PMID 36585164
  3. A pan-cancer analysis of matrisome proteins reveals CTHRC1 and a related network as major ECM regulators across cancers. Harikrishnan K, et al. PLoS One, 2022. PMID 36190948, Free PMC Article
  4. Application of collagen triple helix repeat containing-1 and mitotic spindle apparatus antibody in small cell lung cancer diagnosis. Liu Y, et al. J Clin Lab Anal, 2022 May. PMID 35385156, Free PMC Article
  5. CTHRC1 is a prognosis-related biomarker correlated with immune infiltrates in colon adenocarcinoma. Meng C, et al. World J Surg Oncol, 2022 Mar 20. PMID 35307012, Free PMC Article

See all (95) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CTHRC1 promotes colorectal cancer progression by recruiting tumor-associated macrophages via up-regulation of CCL15.
    Title: CTHRC1 promotes colorectal cancer progression by recruiting tumor-associated macrophages via up-regulation of CCL15.
  2. Activated CTHRC1 promotes glycolysis in endothelial cells: Implications for metabolism and angiogenesis.
    Title: Activated CTHRC1 promotes glycolysis in endothelial cells: Implications for metabolism and angiogenesis.
  3. Activation of CTHRC1 by HOXB9 Promotes Angiogenesis through Fatty Acid Metabolism in Lung Adenocarcinoma.
    Title: Activation of CTHRC1 by HOXB9 Promotes Angiogenesis through Fatty Acid Metabolism in Lung Adenocarcinoma.
  4. Sox2ot /miR-9 /Cthrc1 Promote Proliferation and Migration of Schwann Cells Following Nerve Injury.
    Title: Sox2ot /miR-9 /Cthrc1 Promote Proliferation and Migration of Schwann Cells Following Nerve Injury.
  5. Elevated Levels of Plasma Collagen Triple Helix Repeat Containing 1 (CTHRC1) Are Strongly Associated with eGFR and Albuminuria in Chronic Kidney Disease.
    Title: Elevated Levels of Plasma Collagen Triple Helix Repeat Containing 1 (CTHRC1) Are Strongly Associated with eGFR and Albuminuria in Chronic Kidney Disease.
  6. CTHRC1 expressed in periodontitis and human periodontal fibroblasts exposed to inflammatory stimuli.
    Title: CTHRC1 expressed in periodontitis and human periodontal fibroblasts exposed to inflammatory stimuli.
  7. The well-developed actin cytoskeleton and Cthrc1 expression by actin-binding protein drebrin in myofibroblasts promote cardiac and hepatic fibrosis.
    Title: The well-developed actin cytoskeleton and Cthrc1 expression by actin-binding protein drebrin in myofibroblasts promote cardiac and hepatic fibrosis.
  8. CTHRC1 Is Associated With Immune Escape and Poor Prognosis in Gastric Cancer.
    Title: CTHRC1 Is Associated With Immune Escape and Poor Prognosis in Gastric Cancer.
  9. A pan-cancer analysis of matrisome proteins reveals CTHRC1 and a related network as major ECM regulators across cancers.
    Title: A pan-cancer analysis of matrisome proteins reveals CTHRC1 and a related network as major ECM regulators across cancers.
  10. Application of collagen triple helix repeat containing-1 and mitotic spindle apparatus antibody in small cell lung cancer diagnosis.
    Title: Application of collagen triple helix repeat containing-1 and mitotic spindle apparatus antibody in small cell lung cancer diagnosis.
Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Barrett esophagus
MedGen: C0004763 OMIM: 614266 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with CTHRC1; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Wnt-protein binding IEA
Inferred from Electronic Annotation
more info
  
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables frizzled binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cochlea morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of planar polarity involved in neural tube closure IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in ossification involved in bone remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in osteoblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of osteoblast proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
collagen triple helix repeat-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031985.1 RefSeqGene

    Range
    5024..16475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256099.2 → NP_001243028.1  collagen triple helix repeat-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001243028.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, contains an alternate in-frame 5' terminal exon, and uses an alternate start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF395488, AI743774, BI763295
    Consensus CDS
    CCDS59110.1
    UniProtKB/Swiss-Prot
    Q96CG8
    Related
    ENSP00000430550.1, ENST00000520337.1
    Conserved Domains (1) summary
    pfam01391
    Location:43 → 75
    Collagen; Collagen triple helix repeat (20 copies)

  2. NM_138455.4 → NP_612464.1  collagen triple helix repeat-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_612464.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI743774, BC021025, BI763295
    Consensus CDS
    CCDS6299.1
    UniProtKB/Swiss-Prot
    G3V141, Q6UW91, Q8IX63, Q96CG8
    Related
    ENSP00000330523.5, ENST00000330295.10
    Conserved Domains (1) summary
    pfam01391
    Location:57 → 89
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    103371538..103382989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516824.3 → XP_011515126.1  collagen triple helix repeat-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    E7EVQ5
    Conserved Domains (1) summary
    pfam01391
    Location:57 → 89
    Collagen; Collagen triple helix repeat (20 copies)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    104499186..104510633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359715.1 → XP_054215690.1  collagen triple helix repeat-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96CG8.1 GenPept UniProtKB/Swiss-Prot:Q96CG8

Gene LinkOut

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