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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CTHRC1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    General protein information

    Preferred Names
    collagen triple helix repeat-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_001256099.2NP_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:4375
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_138455.4NP_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:5789
      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_011516824.3XP_011515126.1  collagen triple helix repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      E7EVQ5
      Conserved Domains (1) summary
      pfam01391
      Location:5789
      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_054359715.1XP_054215690.1  collagen triple helix repeat-containing protein 1 isoform X1