CTSF Gene - Cathepsin F
A lysosomal cysteine protease involved in protein degradation and immune response
Gene Information Card
| Symbol | CTSF |
|---|---|
| Full Name | Cathepsin F |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 8722 ncbi.nlm.nih.gov/gene/8722 |
| Ensembl ID | ENSG00000174080 |
| UniProt ID | Q9UBX1 |
| OMIM ID | 603539 |
| HGNC ID | 2531 |
| Aliases | CATSF, CLN13, MGC10848 |
Description
The CTSF gene encodes cathepsin F, a lysosomal cysteine protease belonging to the papain family. It is involved in intracellular protein degradation, antigen processing, and immune regulation. Mutations in CTSF are associated with neuronal ceroid lipofuscinosis type 13 (CLN13), a neurodegenerative disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal ceroid lipofuscinosis 13 (CLN13) | Loss-of-function mutations in CTSF impair lysosomal proteolysis, leading to accumulation of autofluorescent lipopigments in neurons. | ClinVar, OMIM |
| Ceroid lipofuscinosis, neuronal, 13 (Kufs disease type B) | Autosomal recessive inheritance; missense and nonsense variants cause enzyme deficiency. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 nTPM | Medium |
| Lung | 10.2 nTPM | Medium |
| Liver | 8.7 nTPM | Low |
| Kidney | 7.3 nTPM | Low |
| Heart | 6.1 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 nTPM | High expression |
| HeLa | 12.3 nTPM | Medium expression |
| HepG2 | 9.8 nTPM | Medium expression |
| K562 | 5.4 nTPM | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | Rare | Loss of function; associated with CLN13 |
| c.523C>T (p.Arg175Ter) | Nonsense | Rare | Premature stop; loss of function |
| c.835G>A (p.Gly279Arg) | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most CTSF mutations result in loss of enzymatic activity, leading to lysosomal dysfunction and neurodegeneration.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • lysosome |
| • proteolysis | • antigen processing and presentation |
| • protein catabolic process |
Pathways
• Lysosome (KEGG hsa04142)
• Antigen processing and presentation (KEGG hsa04612)
Protein Summary
Cathepsin F is a 484-amino acid lysosomal cysteine protease synthesized as a preproenzyme. It is activated by proteolytic removal of the propeptide. The mature enzyme functions in protein degradation within lysosomes and plays a role in antigen processing. It is widely expressed, with highest levels in the brain and immune tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSF Knockout HEK293 Cell Line | EDJ-KQ2625 | Human | 8722 | Details Get a Quote |
| CTSF Knockout A-549 Cell Line | EDJ-KQ23359 | Human | 8722 | Details Get a Quote |
| CTSF Knockout HeLa Cell Line | EDJ-KQ23360 | Human | 8722 | Details Get a Quote |
| CTSF Knockout HCT 116 Cell Line | EDJ-KQ71941 | Human | 8722 | Details Get a Quote |
