CSTL1: Cystatin-Like 1 Gene
A member of the cystatin superfamily involved in protease inhibition and potential roles in cancer and immune regulation.
Gene Information Card
| Symbol | CSTL1 |
|---|---|
| Full Name | Cystatin-Like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 128817 ncbi.nlm.nih.gov/gene/128817 |
| Ensembl ID | ENSG00000101441 |
| UniProt ID | Q9H114 |
| OMIM ID | 618522 |
| HGNC ID | 24749 |
| Aliases | CSTL, dJ434O11.1 |
Description
CSTL1 encodes a member of the cystatin superfamily of cysteine protease inhibitors. The protein contains a cystatin-like domain and is predicted to inhibit papain-like cysteine proteases. CSTL1 is expressed in various tissues and may play roles in proteolytic regulation, immune response, and cancer progression. Limited functional studies suggest involvement in tumor suppression or modulation of extracellular matrix remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential dysregulation of protease inhibition may contribute to tumor invasion and metastasis. | COSMIC; limited direct evidence |
| Inflammatory disorders | Cystatin family members modulate inflammation; CSTL1 may influence protease activity in immune cells. | NCBI Gene; inferred from family homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney; moderate expression |
| HeLa | 7.3 | Cervical cancer; low expression |
| A549 | 5.9 | Lung carcinoma; low expression |
| K562 | 4.2 | Leukemia; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152G>A (p.Arg51Gln) | Missense | <0.01% | Unknown; predicted benign |
| c.208C>T (p.Arg70Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.301_302del (p.Leu101fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu101fs) likely result in truncated protein and loss of inhibitory activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase inhibitor activity | • extracellular region |
| • proteolysis |
Pathways
• Cystatin family (Reactome: R-HSA-8866423)
• Protease inhibition (KEGG: hsa04610)
Protein Summary
CSTL1 is a 145-amino acid protein with a single cystatin domain. It is predicted to inhibit cysteine proteases such as cathepsins, though specific substrates remain unconfirmed. The protein is secreted or localized to the extracellular space, suggesting roles in regulating pericellular proteolysis. Structural homology to other cystatins implies potential involvement in tumor suppression, inflammation, and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSTL1 Knockout HEK293 Cell Line | EDJ-KQ9196 | Human | 128817 | Details Get a Quote |
| CSTL1 Knockout HeLa Cell Line | EDJ-KQ58248 | Human | 128817 | Details Get a Quote |
| CSTL1 Knockout A-549 Cell Line | EDJ-KQ66736 | Human | 128817 | Details Get a Quote |
| CSTL1 Knockout HCT 116 Cell Line | EDJ-KQ75147 | Human | 128817 | Details Get a Quote |
