CHI3L1 (Chitinase 3 Like 1)
YKL-40, a secreted glycoprotein implicated in inflammation, tissue remodeling, and cancer
Gene Information Card
| Symbol | CHI3L1 |
|---|---|
| Full Name | Chitinase 3 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 1116 ncbi.nlm.nih.gov/gene/1116 |
| Ensembl ID | ENSG00000133048 |
| UniProt ID | P36222 |
| OMIM ID | 601525 |
| HGNC ID | 1932 |
| Aliases | YKL-40, GP39, HC-gp39, CHI3L1 |
Description
CHI3L1 encodes a secreted glycoprotein known as YKL-40, a member of the glycosyl hydrolase 18 family. Despite structural homology to chitinases, it lacks enzymatic activity due to a mutation in the active site. YKL-40 is involved in inflammation, extracellular matrix remodeling, and cell proliferation. It is upregulated in various inflammatory diseases and cancers, and serves as a biomarker for disease severity and prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | YKL-40 promotes airway remodeling and inflammation; elevated serum levels correlate with disease severity | ClinVar, OMIM |
| Rheumatoid Arthritis | YKL-40 is produced by synovial cells and chondrocytes; associated with joint destruction and inflammation | OMIM, NCBI |
| Osteoarthritis | YKL-40 levels in synovial fluid reflect cartilage degradation and disease progression | OMIM, NCBI |
| Glioblastoma | Overexpression of YKL-40 promotes tumor invasion and angiogenesis; associated with poor prognosis | COSMIC, NCBI |
| Colorectal Cancer | Elevated YKL-40 serum levels correlate with metastasis and reduced survival | COSMIC, NCBI |
| Type 2 Diabetes | YKL-40 is linked to insulin resistance and adipose tissue inflammation | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Cartilage | 15.1 | High |
| Synovium | 18.7 | High |
| Adipose Tissue | 9.4 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung cancer) | 22.3 | High expression |
| HepG2 (Liver cancer) | 14.7 | Moderate expression |
| U87MG (Glioblastoma) | 35.1 | Very high expression |
| SW480 (Colorectal cancer) | 19.5 | High expression |
| THP-1 (Monocyte) | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Rare variant; no known disease association |
| c.331G>A (p.Gly111Ser) | Missense | <0.01% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in CHI3L1.
Gain of Function (GOF)
Overexpression (not mutation) is the primary gain-of-function mechanism in cancer and inflammation.
Dominant Negative (DN)
Not described for CHI3L1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• IL-13 signaling pathway (Reactome: R-HSA-6785807)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
CHI3L1 encodes YKL-40, a 40 kDa secreted glycoprotein. It binds to chitin and heparin, but lacks chitinase activity. YKL-40 is produced by macrophages, chondrocytes, synovial cells, and cancer cells. It promotes cell survival, angiogenesis, and tissue remodeling. Elevated levels are found in serum and synovial fluid of patients with inflammatory diseases and multiple cancers, making it a clinically useful biomarker.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHI3L1 Knockout HEK293 Cell Line | EDJ-KQ4268 | Human | 1116 | Details Get a Quote |
| CHI3L1 Knockout HeLa Cell Line | EDJ-KQ52891 | Human | 1116 | Details Get a Quote |
| CHI3L1 Knockout A-549 Cell Line | EDJ-KQ61359 | Human | 1116 | Details Get a Quote |
| CHI3L1 Knockout HCT 116 Cell Line | EDJ-KQ69856 | Human | 1116 | Details Get a Quote |
