CTSC

Chr 11q14.2

cathepsin C

Aliases:: DPP1
MANE:: ENST00000227266.10

OMIM: 602365 ↗NCBI: 1075 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CTSC · P53634

v62025-08-01

Predicted Aligned Error matrix for CTSC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.1/ 100

Very high

463 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)12%
Low(50–70)4%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratoderma and erythrokeratodermas
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

Papillon-Lefèvre syndrome
0.84
Haim-Munk syndrome
0.80
Papillon-Lefevre disease
0.80
periodontitis, aggressive 1
0.66
periodontitis
0.56
chronic periodontitis
0.55
bronchiectasis
0.52
Palmoplantar keratoderma
0.46
hereditary palmoplantar keratoderma
0.46
epidermolytic palmoplantar keratoderma, 1
0.46

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dipeptidyl peptidase 1

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 and arginine cannot occupy the P2 position of the substrate (PubMed:1586157). Can act as both an exopeptidase and endopeptidase (PubMed:1586157). Activates serine proteases such as elastase, cathepsin G and granzymes A and B (PubMed:8428921)