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

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: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (103371538..103382989)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (104499186..104510633)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (104383766..104395217)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables prostaglandin-endoperoxide synthase activity	IBA Inferred from Biological aspect of Ancestor 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 cyclooxygenase pathway	IBA Inferred from Biological aspect of Ancestor 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 more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
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

NG_031985.1 RefSeqGene

Range

5024..16475

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

103371538..103382989

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)