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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
    mouse all
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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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    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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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