Gene Gene information from NCBI Gene database.
Entrez ID 1075
Gene name Cathepsin C
Gene symbol CTSC
Synonyms (NCBI Gene)
CPPIDPP-IDPP1DPPIHMSJPJPDPALSPDON1PLS
Chromosome 11
Chromosome location 11q14.2
Summary This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript v
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs28937571 T>C Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs104894207 T>A Likely-pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs104894208 T>C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs104894211 T>C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs587777534 C>G,T Pathogenic, likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
764
miRTarBase ID miRNA Experiments Reference
MIRT001372 hsa-miR-1-3p pSILAC 18668040
MIRT019957 hsa-miR-375 Microarray 20215506
MIRT001372 hsa-miR-1-3p Proteomics;Other 18668040
MIRT027765 hsa-miR-98-5p Microarray 19088304
MIRT047909 hsa-miR-30c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0001913 Process T cell mediated cytotoxicity IEA
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 18256700, 32814053
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602365 2528 ENSG00000109861
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53634
Protein name Dipeptidyl peptidase 1 (EC 3.4.14.1) (Cathepsin C) (Cathepsin J) (Dipeptidyl peptidase I) (DPP-I) (DPPI) (Dipeptidyl transferase) [Cleaved into: Dipeptidyl peptidase 1 exclusion domain chain (Dipeptidyl peptidase I exclusion domain chain); Dipeptidyl pept
Protein function Thiol protease (PubMed:1586157). Has dipeptidylpeptidase activity (PubMed:1586157). Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids (PubMed:1586157). Proline cannot occupy the P1 position a
PDB 1K3B , 2DJF , 2DJG , 3PDF , 4CDC , 4CDD , 4CDE , 4CDF , 4OEL , 4OEM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08773 CathepsinC_exc 25 141 Cathepsin C exclusion domain Domain
PF00112 Peptidase_C1 231 458 Papain family cysteine protease Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. {ECO:0000269|PubMed:9092576}.
Sequence
Sequence length 463
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Apoptosis
  COPII-mediated vesicle transport
MHC class II antigen presentation
Cargo concentration in the ER
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CTSC-related disorder Likely pathogenic; Pathogenic rs104894210, rs199474831 RCV004758590
RCV004031252
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Haim-Munk syndrome Pathogenic; Likely pathogenic rs766114323, rs2496556146, rs1408095438, rs2496556090, rs2134770866, rs2496533083, rs587777533, rs587777534, rs1044703733, rs34876841, rs754779432, rs1937786065, rs766504984, rs778236403, rs1409888746
View all (46 more)
RCV001388606
RCV002044609
RCV001921432
RCV001915195
RCV001970043
View all (60 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pathogenic; Likely pathogenic rs766114323, rs2496556146, rs1408095438, rs2496556090, rs2134770866, rs2496533083, rs587777532, rs587777533, rs587777534, rs2496562224, rs2496556240, rs1044703733, rs34876841, rs754779432, rs1937786065
View all (53 more)
RCV001388606
RCV002044609
RCV001921432
RCV001915195
RCV001970043
View all (68 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Periodontitis, aggressive 1 Pathogenic; Likely pathogenic rs766114323, rs2496556146, rs1408095438, rs2496556090, rs2134770866, rs2496533083, rs587777533, rs587777534, rs1044703733, rs34876841, rs754779432, rs1937786065, rs766504984, rs778236403, rs1409888746
View all (47 more)
RCV001388606
RCV002044609
RCV001921432
RCV001915195
RCV001970043
View all (61 more)
★★★★★
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.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acro-Osteolysis Acrosteolysis HPO_DG
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 10593994, 10662808, 14974080, 15111626, 16128836, 18222334, 18294227, 18809751, 26607765, 29410039, 31068678
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis LHGDN 18809751
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome BEFREE 31325016
★☆☆☆☆
Found in Text Mining only
Alveolar pyorrhea Marginal periodontitis CTD_human_DG 10662807
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37925455 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 31499409
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31637552
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 27283739
★☆☆☆☆
Found in Text Mining only