Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1508
Gene name Gene Name - the full gene name approved by the HGNC.
Cathepsin B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTSB
Synonyms (NCBI Gene) Gene synonyms aliases
APPS, CPSB, KWE, RECEUP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
KWE
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002224 Process Toll-like receptor signaling pathway TAS
GO:0004197 Function Cysteine-type endopeptidase activity IBA 21873635
GO:0004197 Function Cysteine-type endopeptidase activity IDA 6203523, 22952693
GO:0005515 Function Protein binding IPI 6203523, 7890620, 8083219, 16237761, 16364318, 17064696, 18718938, 20706999, 32814053
GO:0005518 Function Collagen binding IDA 22952693
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
116810 2527 ENSG00000164733
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Glioblastoma Glioblastoma, Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 22287159
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
7099197
Papillary renal carcinoma Papillary Renal Cell Carcinoma rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724 15108329
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
28892059
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 15108329 ClinVar
Keratolytic Winter Erythema keratolytic winter erythema GenCC
Parkinson Disease Parkinson Disease GWAS
Neuroticism Neuroticism GWAS
Associations from Text Mining
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