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

Gene ID: 115908, updated on 5-Sep-2021

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
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

See CTHRC1 in Genome Data Viewer
Location:
8q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (103371538..103382989)
105.20201022 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 frizzled class receptor 6 Neighboring gene small nucleolar RNA, C/D box 173 Neighboring gene RNA, U6 small nuclear 1011, pseudogene Neighboring gene solute carrier family 25 member 32

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

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
 

General protein information

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_001256099.2NP_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
    Q96CG8
    Related
    ENSP00000330523.5, ENST00000330295.10
    Conserved Domains (1) summary
    pfam01391
    Location:5789
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011516824.2XP_011515126.1  collagen triple helix repeat-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam01391
    Location:5789
    Collagen; Collagen triple helix repeat (20 copies)
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