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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1285
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CTSC-related disorder Likely pathogenic; Pathogenic rs104894210, rs199474831 RCV004758590
RCV004031252
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
RCV002047393
RCV001043532
RCV002514705
RCV003037422
RCV003058346
RCV003058347
RCV003079128
RCV003076204
RCV003086534
RCV002643881
RCV002618664
RCV002622676
RCV002780021
RCV002814679
RCV001040162
RCV005222671
RCV003764534
RCV001851724
RCV003764536
RCV001204386
RCV002512877
RCV005003055
RCV003797919
RCV003782822
RCV003782911
RCV003782948
RCV003783581
RCV003783584
RCV003783585
RCV003783586
RCV003783587
RCV003783588
RCV003793369
RCV003779994
RCV003787847
RCV003786609
RCV003793902
RCV003806200
RCV003800057
RCV003805794
RCV003803725
RCV003790810
RCV003798952
RCV003802680
RCV003808538
RCV003802271
RCV003802326
RCV003802378
RCV003802460
RCV003815446
RCV003813426
RCV003807446
RCV003807597
RCV003812792
RCV001860488
RCV003767920
RCV000697206
RCV000807445
RCV001041477
RCV001204356
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
RCV002047393
RCV000128618
RCV000128619
RCV000779084
RCV002226632
RCV002251012
RCV003037422
RCV003058346
RCV003058347
RCV003079128
RCV003076204
RCV003086534
RCV002643881
RCV002618664
RCV002622676
RCV002780021
RCV002814679
RCV000007712
RCV000007713
RCV000007714
RCV000007715
RCV000007716
RCV000007719
RCV000007720
RCV000007721
RCV000128617
RCV003158019
RCV003324436
RCV003797919
RCV003782822
RCV003782911
RCV003782948
RCV003783581
RCV003783584
RCV003783585
RCV003783586
RCV003783587
RCV003783588
RCV003793369
RCV003779994
RCV003787847
RCV003786609
RCV003793902
RCV003806200
RCV003800057
RCV003805794
RCV003803725
RCV003790810
RCV003798952
RCV003802680
RCV003808538
RCV003802271
RCV003802326
RCV003802378
RCV003802460
RCV003815446
RCV003813426
RCV003807446
RCV003807597
RCV003812792
RCV004557241
RCV001860488
RCV001332042
RCV000697206
RCV000807445
RCV001007574
RCV001041477
RCV001204356
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
RCV002047393
RCV001043532
RCV000128620
RCV003037422
RCV003058346
RCV003058347
RCV003079128
RCV003076204
RCV003086534
RCV002643881
RCV002618664
RCV002622676
RCV002780021
RCV002814679
RCV001040162
RCV005222671
RCV003764534
RCV001851724
RCV003764536
RCV001204386
RCV000007723
RCV000007724
RCV005003055
RCV003797919
RCV003782822
RCV003782911
RCV003782948
RCV003783581
RCV003783584
RCV003783585
RCV003783586
RCV003783587
RCV003783588
RCV003793369
RCV003779994
RCV003787847
RCV003786609
RCV003793902
RCV003806200
RCV003800057
RCV003805794
RCV003803725
RCV003790810
RCV003798952
RCV003802680
RCV003808538
RCV003802271
RCV003802326
RCV003802378
RCV003802460
RCV003815446
RCV003813426
RCV003807446
RCV003807597
RCV003812792
RCV001860488
RCV000661991
RCV000697206
RCV000807445
RCV001041477
RCV001204356
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2134763135, rs1591222382, rs2496620631, rs767396820 -
Cervical cancer Benign rs55948254 RCV005919964
Malignant lymphoma, large B-cell, diffuse Benign rs217115 RCV005923498
Malignant tumor of esophagus Benign rs55948254 RCV005919963
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 11106356
Aggressive Periodontitis Associate 10662808, 26607765, 34515563
Alzheimer Disease Associate 37925455
Asthma Associate 15038835, 37438356
Carcinoma Adenosquamous Associate 34326696
Carcinoma Hepatocellular Associate 36189226
Carcinoma Renal Cell Associate 26575290, 32331211
Congenital Disorders of Glycosylation Associate 37069668
Death Sudden Cardiac Stimulate 34737793
Dihydropyrimidine Dehydrogenase Deficiency Associate 20797317