Gene
ctsc
- ID
- ZDB-GENE-030619-9
- Name
- cathepsin C
- Symbol
- ctsc Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have cysteine-type endopeptidase activity. Predicted to be involved in proteolysis involved in cellular protein catabolic process. Predicted to localize to extracellular space and lysosome. Human ortholog(s) of this gene implicated in Papillon-Lefevre disease and aggressive periodontitis. Is expressed in macrophage; neural crest; polster; somite; and yolk syncytial layer. Orthologous to human CTSC (cathepsin C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb146 (4 images)
- cb912 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| aggressive periodontitis | Alliance | Periodontitis 1, juvenile | 170650 |
| Papillon-Lefevre disease | Alliance | Papillon-Lefevre syndrome | 245000 |
| Haim-Munk syndrome | 245010 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR000169 | Cysteine peptidase, cysteine active site |
| Active_site | IPR025660 | Cysteine peptidase, histidine active site |
| Active_site | IPR025661 | Cysteine peptidase, asparagine active site |
| Domain | IPR000668 | Peptidase C1A, papain C-terminal |
| Domain | IPR014882 | Cathepsin C exclusion |
| Domain | IPR039412 | Cathepsin C |
| Family | IPR013128 | Peptidase C1A |
| Homologous_superfamily | IPR036496 | Cathepsin C, exclusion domain superfamily |
| Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
| Protein | Length | Cathepsin C | Cathepsin C exclusion | Cathepsin C, exclusion domain superfamily | Cysteine peptidase, asparagine active site | Cysteine peptidase, cysteine active site | Cysteine peptidase, histidine active site | Papain-like cysteine peptidase superfamily | Peptidase C1A | Peptidase C1A, papain C-terminal |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6P2V1
|
455 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available