CTHRC1
Collagen Triple Helix Repeat Containing 1
Gene Information Card
| Symbol | CTHRC1 |
|---|---|
| Full Name | Collagen Triple Helix Repeat Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 115908 ncbi.nlm.nih.gov/gene/115908 |
| Ensembl ID | ENSG00000163638 |
| UniProt ID | Q96CG8 |
| OMIM ID | 610635 |
| HGNC ID | 18849 |
| Aliases | NMTC1, collagen triple helix repeat-containing protein 1 |
Description
CTHRC1 encodes a secreted protein that contains a collagen-like triple helix repeat domain. It is involved in cell migration, vascular remodeling, and extracellular matrix interactions. Overexpression is observed in various cancers and fibrotic diseases, where it promotes invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, gastric, melanoma) | Overexpression promotes cell migration, invasion, and metastasis via TGF-β and Wnt signaling | Multiple studies in NCBI and COSMIC |
| Fibrosis (e.g., pulmonary, hepatic) | Upregulation in activated fibroblasts; contributes to extracellular matrix deposition | NCBI Gene and literature |
| Cardiovascular disease | Involved in vascular remodeling and neointimal hyperplasia | OMIM and NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.0 | Not expressed |
| HeLa (cervical cancer) | 0.0 | Not expressed |
| A549 (lung cancer) | 0.0 | Not expressed |
| HepG2 (liver cancer) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown significance |
| c.100C>T | missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role, but no specific activating mutations documented.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • collagen trimer |
| • cell migration | • extracellular matrix organization |
| • positive regulation of cell migration |
Pathways
• TGF-beta signaling pathway
• Wnt signaling pathway
• Focal adhesion
Protein Summary
CTHRC1 is a 243-amino acid secreted protein with a collagen-like triple helix domain. It localizes to the extracellular matrix and modulates cell adhesion, migration, and proliferation. It is implicated in tissue repair, fibrosis, and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTHRC1 Knockout HEK293 Cell Line | EDJ-KQ2649 | Human | 115908 | Details Get a Quote |
| CTHRC1 Knockout A-549 Cell Line | EDJ-KQ23416 | Human | 115908 | Details Get a Quote |
| CTHRC1 Knockout HCT 116 Cell Line | EDJ-KQ23417 | Human | 115908 | Details Get a Quote |
| CTHRC1 Knockout HeLa Cell Line | EDJ-KQ57965 | Human | 115908 | Details Get a Quote |
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