Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1075
Gene name Gene Name - the full gene name approved by the HGNC.
Cathepsin C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTSC
Synonyms (NCBI Gene) Gene synonyms aliases
CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HMS, PLS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001913 Process T cell mediated cytotoxicity IEA
GO:0004197 Function Cysteine-type endopeptidase activity IBA 21873635
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 18256700, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602365 2528 ENSG00000109861
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259
Dermatitis Dermatitis, Allergic Contact rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 17374397
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
21364753
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
Unknown
Disease term Disease name Evidence References Source
Ectodermal Dysplasia ectodermal dysplasia syndrome GenCC
Stress Disorder Stress Disorder GWAS
Dementia Dementia GWAS
Associations from Text Mining
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