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Gene Gene information from NCBI Gene database.
Entrez ID 1520
Gene name Cathepsin S
Gene symbol CTSS
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.3
Summary The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The mature protein cleaves t
miRNA miRNA information provided by mirtarbase database.
332 Show/Hide all (332)
miRTarBase ID miRNA Experiments Reference
MIRT704399 hsa-miR-8066 HITS-CLIP 23313552
MIRT704398 hsa-miR-3622a-3p HITS-CLIP 23313552
MIRT704397 hsa-miR-3622b-3p HITS-CLIP 23313552
MIRT704396 hsa-miR-6765-3p HITS-CLIP 23313552
MIRT704395 hsa-miR-4768-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SPI1 Activation 16365419
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57 Show/Hide all (57)
GO ID Ontology Definition Evidence Reference
GO:0001968 Function Fibronectin binding IEA
GO:0001968 Function Fibronectin binding IPI 22952693
GO:0002224 Process Toll-like receptor signaling pathway TAS
GO:0002250 Process Adaptive immune response IEP 15196205
GO:0002577 Process Regulation of antigen processing and presentation IDA 22365146
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116845 2545 ENSG00000163131
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25774
Protein name Cathepsin S (EC 3.4.22.27)
Protein function Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules and MHC class II antigen presentation (PubMed:30612035). The bond-specificity of this proteinase is in part similar to the specificities
PDB 1GLO , 1MS6 , 1NPZ , 1NQC , 2C0Y , 2F1G , 2FQ9 , 2FRA , 2FRQ , 2FT2 , 2FUD , 2FYE , 2G6D , 2G7Y , 2H7J , 2HH5 , 2HHN , 2HXZ , 2OP3 , 2R9M , 2R9N , 2R9O , 3IEJ , 3N3G , 3N4C , 3OVX , 4P6E , 4P6G , 5QBU , 5QBV , 5QBW , 5QBX , 5QBY , 5QBZ , 5QC0 , 5QC1 , 5QC2 , 5QC3 , 5QC4 , 5QC5 , 5QC6 , 5QC7 , 5QC8 , 5QC9 , 5QCA , 5QCB , 5QCC , 5QCD , 5QCE , 5QCF , 5QCG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00112 Peptidase_C1 115 → 330 Papain family cysteine protease Domain
PF08246 Inhibitor_I29 28 → 88 Cathepsin propeptide inhibitor domain (I29) Domain
Sequence
Sequence length 331
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Lysosome Degradation of the extracellular matrix
Phagosome Trafficking and processing of endosomal TLR
Apoptosis Assembly of collagen fibrils and other multimeric structures
Antigen processing and presentation MHC class II antigen presentation
Tuberculosis Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA — GWAS catalog 31174203, 33549134, 38182794
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 32469254, 36474045, 41022758
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (162)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 1837142, 39740768, 7575468, 7717452 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 33892821, 39740768 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 18155003 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 25301844
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 17322367, 22804761, 24833013 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 25301844, 31156336
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic valve disorder Aortic Valve Disease BEFREE 29915952
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 29915952
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 10721671, 15985526, 21223957, 27595325, 29970364, 30549421, 31115520, 31156336, 31296090
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30248434, 31553637, 31729618
★★★★★
★☆☆☆☆
Found in Text Mining only