TIMP1: Tissue Inhibitor of Metalloproteinases 1
A key regulator of extracellular matrix remodeling and cell signaling
Gene Information Card
| Symbol | TIMP1 |
|---|---|
| Full Name | TIMP metallopeptidase inhibitor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 7076 ncbi.nlm.nih.gov/gene/7076 |
| Ensembl ID | ENSG00000102265 |
| UniProt ID | P01033 |
| OMIM ID | 305370 |
| HGNC ID | 11820 |
| Aliases | EPA, EPO, HCI, CLGI, TIMP, TIMP-1 |
Description
TIMP1 encodes a member of the TIMP family, which are natural inhibitors of matrix metalloproteinases (MMPs). TIMP1 specifically inhibits MMP-1, MMP-3, MMP-7, and MMP-9. Beyond MMP inhibition, TIMP1 has growth-promoting and anti-apoptotic activities. It is involved in extracellular matrix turnover, tissue remodeling, and cell proliferation. Dysregulation of TIMP1 is implicated in cancer progression, fibrosis, and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of TIMP1 promotes tumor growth and metastasis via MMP inhibition and anti-apoptotic signaling | ClinVar, COSMIC, NCBI |
| Liver fibrosis | Increased TIMP1 expression inhibits MMP-mediated collagen degradation, leading to fibrotic accumulation | NCBI, OMIM |
| Rheumatoid arthritis | Elevated TIMP1 in synovial fluid contributes to joint destruction by altering MMP/TIMP balance | NCBI, OMIM |
| Cardiovascular disease | TIMP1 modulates extracellular matrix remodeling in atherosclerosis and myocardial infarction | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Heart | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 10.8 | Lung adenocarcinoma cell line |
| MCF7 | 7.4 | Breast cancer cell line |
| HeLa | 5.9 | Cervical cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.364C>T | Missense | Rare | p.Arg122Cys; associated with altered MMP inhibition |
| c.434G>A | Missense | Rare | p.Arg145Gln; reported in cancer samples |
| c.1A>G | Start loss | Very rare | p.Met1?; loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TIMP1 are rare and may reduce MMP inhibitory capacity, potentially increasing ECM degradation.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression is more common in disease contexts.
Dominant Negative (DN)
No dominant-negative mutations have been reported for TIMP1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Matrix metalloproteinase inhibition pathway
• Extracellular matrix remodeling
• TNF-alpha signaling pathway (via NF-kB)
Protein Summary
TIMP1 is a 184-amino-acid secreted glycoprotein that forms inhibitory complexes with MMPs. It contains an N-terminal domain responsible for MMP binding and a C-terminal domain involved in protein-protein interactions. TIMP1 also exhibits cytokine-like functions, promoting cell growth and survival through interactions with CD63 and integrins. Its expression is induced by cytokines, growth factors, and oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIMP1 Knockout HEK293 Cell Line | EDJ-KQ50687 | Human | 7076 | Details Get a Quote |
| TIMP1 Knockout HeLa Cell Line | EDJ-KQ54661 | Human | 7076 | Details Get a Quote |
| TIMP1 Knockout A-549 Cell Line | EDJ-KQ63142 | Human | 7076 | Details Get a Quote |
| TIMP1 Knockout HCT 116 Cell Line | EDJ-KQ71615 | Human | 7076 | Details Get a Quote |
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