Gene Gene information from NCBI Gene database.
Entrez ID 1508
Gene name Cathepsin B
Gene symbol CTSB
Synonyms (NCBI Gene)
APPSCPSBKWERECEUP
Chromosome 8
Chromosome location 8p23.1
Summary 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 pro
miRNA miRNA information provided by mirtarbase database.
807
miRTarBase ID miRNA Experiments Reference
MIRT049702 hsa-miR-92a-3p CLASH 23622248
MIRT046187 hsa-miR-27b-3p CLASH 23622248
MIRT725558 hsa-miR-183-5p HITS-CLIP 19536157
MIRT725557 hsa-miR-1271-5p HITS-CLIP 19536157
MIRT725556 hsa-miR-96-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
ETS1 Unknown 10701774
NFKB1 Activation 15102937;18598236
RELA Activation 15102937;18598236
SP1 Unknown 10701774
SP3 Unknown 10701774
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IDA 6203523, 22952693
GO:0004197 Function Cysteine-type endopeptidase activity IEA
GO:0004197 Function Cysteine-type endopeptidase activity TAS 1645961
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116810 2527 ENSG00000164733
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07858
Protein name Cathepsin B (EC 3.4.22.1) (APP secretase) (APPS) (Cathepsin B1) [Cleaved into: Cathepsin B light chain; Cathepsin B heavy chain]
Protein function Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Involved in the solubilization of cross-linked TG/t
PDB 1CSB , 1GMY , 1HUC , 1PBH , 2IPP , 2PBH , 3AI8 , 3CBJ , 3CBK , 3K9M , 3PBH , 5MBL , 5MBM , 6AY2 , 8B4T , 8B5F , 8HE9 , 8HEI , 8HEN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08127 Propeptide_C1 26 65 Peptidase family C1 propeptide Motif
PF00112 Peptidase_C1 80 329 Papain family cysteine protease Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the stratum spinosum of the epidermis. Weak expression is detected in the stratum granulosum. {ECO:0000269|PubMed:28457472}.
Sequence
Sequence length 339
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - animal
Lysosome
Apoptosis
Antigen processing and presentation
NOD-like receptor signaling pathway
Renin secretion
  Collagen degradation
Trafficking and processing of endosomal TLR
Assembly of collagen fibrils and other multimeric structures
MHC class II antigen presentation
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
20
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CTSB-related disorder Benign; Likely benign rs1803250, rs138936863, rs13332, rs12338, rs148117767, rs138246733, rs115207582, rs149724176, rs376137412, rs114308907, rs146909557, rs11548596 RCV003973264
RCV003948423
RCV003921075
RCV003983943
RCV003933525
RCV003971131
RCV003913708
RCV003922172
RCV003964753
RCV003978354
RCV003940444
RCV003950690
Familial cancer of breast Likely benign rs145256597 RCV005926270
Hepatocellular carcinoma Benign rs1736088, rs2294140, rs2272766 RCV005914330
RCV005914019
RCV005914018
Keratolytic winter erythema Benign; Conflicting classifications of pathogenicity rs1803250, rs1736088, rs768758957 RCV001420699
RCV001664930
RCV005361838
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19930869, 20651033, 35766871, 37991139, 8286198, 8432883, 9770500
Adenocarcinoma Stimulate 8985467
Adenocarcinoma of Lung Associate 8407565
Adenoma Associate 20833970
AIDS Arteritis Central Nervous System Stimulate 23291538
AIDS Associated Nephropathy Associate 22693552
AIDS Associated Nephropathy Stimulate 34996989
AIDS Dementia Complex Associate 23291538, 25209871
Alzheimer Disease Associate 10745011, 15584903, 20920298, 31521194, 38071653, 8415732, 8665854, 8670881, 9236226
Alzheimer Disease Stimulate 26924205