Version: 8.0.0Date: Tue Jan 28 2025
Gene
CTSB
- Species
- Homo sapiens
- Symbol
- CTSB
- Name
- cathepsin B
- Synonyms
- amyloid precursor protein secretase
- APP secretase
- Biotype
- protein coding gene
- Automated Description
- Enables collagen binding activity; cysteine-type endopeptidase activity; and proteoglycan binding activity. Involved in several processes, including cellular response to thyroid hormone stimulus; collagen catabolic process; and proteolysis involved in protein catabolic process. Located in extracellular space; lysosome; and perinuclear region of cytoplasm. Part of peptidase inhibitor complex. Implicated in diabetes mellitus. Biomarker of several diseases, including autoimmune disease of the nervous system (multiple); carcinoma (multiple); glioblastoma; intracranial aneurysm; and type 2 diabetes mellitus.
- RGD Description
- This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR12411
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr8:11842524...11869533 - (27.01 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.