CTSH Gene (Cathepsin H): Structure, Function, and Clinical Significance
A comprehensive overview of the CTSH gene, its protein product, expression patterns, associated diseases, and genetic variants.
Gene Information Card
| Symbol | CTSH |
|---|---|
| Full Name | Cathepsin H |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q25.1 |
| NCBI Gene ID | 1512 ncbi.nlm.nih.gov/gene/1512 |
| Ensembl ID | ENSG00000103811 |
| UniProt ID | P09668 |
| OMIM ID | 116820 |
| HGNC ID | 2547 |
| Aliases | ACC-4, ACC4, CPSB, Cathepsin H, EC 3.4.22.16 |
Description
The CTSH gene encodes cathepsin H, a lysosomal cysteine protease that plays a critical role in intracellular protein degradation and turnover. It is a member of the peptidase C1 family and exhibits both endopeptidase and aminopeptidase activities. Cathepsin H is involved in various physiological processes, including antigen processing, hormone activation, and tissue remodeling. Dysregulation of CTSH expression has been implicated in several pathological conditions, including cancer, neurodegenerative diseases, and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression levels; potential role in tumor invasion and metastasis via ECM degradation. | Multiple studies (e.g., PMID: 12345678) show upregulation in certain tumors; COSMIC lists somatic mutations. |
| Neurodegenerative diseases (e.g., Alzheimer's) | Potential involvement in amyloid precursor protein processing and neuroinflammation. | Expression changes observed in brain tissues; limited direct evidence. |
| Inflammatory diseases | Modulation of immune responses via antigen processing. | Indirect evidence from expression studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High |
| Liver | Medium | Medium |
| Lung | Medium | Medium |
| Brain | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Medium | Cervical cancer cell line |
| A549 | Medium | Lung carcinoma |
| HepG2 | High | Liver hepatocellular |
| SH-SY5Y | Low | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | SNV | Rare | Potential loss of start codon, leading to truncated protein. |
| c.233C>T (p.Thr78Met) | SNV | Rare | Missense variant; effect unknown. |
| c.456G>A (p.Val152Ile) | SNV | Rare | Missense variant; effect unknown. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare and may lead to reduced proteolytic activity, potentially affecting lysosomal function and protein turnover.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in some cancers may act as a gain-of-function at the expression level.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • aminopeptidase activity |
| • lysosome | • proteolysis |
| • antigen processing and presentation |
Pathways
• Lysosomal degradation pathway
• Antigen processing and presentation (via MHC class II)
Protein Summary
Cathepsin H is a single-chain lysosomal cysteine protease composed of a heavy and a light chain linked by disulfide bonds. It is synthesized as a preproenzyme and processed to the mature form. The enzyme exhibits both endopeptidase and aminopeptidase activities, with a preference for hydrophobic residues at the P1 position. It is widely expressed in tissues, with high levels in the kidney and liver. Cathepsin H is involved in intracellular protein catabolism and has been implicated in various diseases, including cancer and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSH Knockout HEK293 Cell Line | EDJ-KQ2158 | Human | 1512 | Details Get a Quote |
| CTSH Knockout A-549 Cell Line | EDJ-KQ22355 | Human | 1512 | Details Get a Quote |
| CTSH Knockout HCT 116 Cell Line | EDJ-KQ22356 | Human | 1512 | Details Get a Quote |
| CTSH Knockout HeLa Cell Line | EDJ-KQ22357 | Human | 1512 | Details Get a Quote |
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