CTSC (cathepsin C)

2014-08-01  

Identity

HGNC
LOCATION
11q14.2
LOCUSID
ALIAS
CPPI,DPP-I,DPP1,DPPI,HMS,JP,JPD,PALS,PDON1,PLS
FUSION GENES

Other Information

Locus ID:

NCBI: 1075
MIM: 602365
HGNC: 2528
Ensembl: ENSG00000109861

Variants:

dbSNP: 1075
ClinVar: 1075
TCGA: ENSG00000109861
COSMIC: CTSC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109861ENST00000227266P53634
ENSG00000109861ENST00000524463P53634
ENSG00000109861ENST00000527018H0YCY8
ENSG00000109861ENST00000528020H0YDA2
ENSG00000109861ENST00000529974P53634

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
ApoptosisKEGGhsa04210
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
155858502004Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans.56
266317372016Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.40
175358022007Inhibition of the activation of multiple serine proteases with a cathepsin C inhibitor requires sustained exposure to prevent pro-enzyme processing.19
170205382007The crystal structure of human dipeptidyl peptidase I (cathepsin C) in complex with the inhibitor Gly-Phe-CHN2.17
149740802004The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.14
268843362016Neutrophilic Cathepsin C Is Maturated by a Multistep Proteolytic Process and Secreted by Activated Cells during Inflammatory Lung Diseases.10
182942272008Functional Cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes.9
120800792002Selective inhibition of dipeptidyl peptidase I, not caspases, prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes.8
128573592003Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome.7
151116262004Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome.7

Citation

Dessen P

CTSC (cathepsin C)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54242/ctsc