ImmunoDeficiency Resource (IDR)

Names

HUGO name: CTSC

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Variations / Mutations

• CTSCbase; Mutation registry for Papillon -Lefevre syndrome

Other gene-based resources

Description

Protein function:

Thiol protease. Has dipeptidylpeptidase activity. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin g and granzymes a and b. Can also activate neuraminidase and Factor XIII.

Catalytic activity:

Release of an N-terminal dipeptide, xaa-yaa-|-zaa-, except when xaa is arg or lys, or yaa or zaa is pro.

Subunit:

Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains.

Subcellular location:

Lysosome

Post-translational modification:

N-glycosylated

Cofactor:

Binds 1 chloride ion per heavy chain.

Induction:

Up-regulated in lymphocytes by Il2.

Tissue specificity:

Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas.

Similarity:

Belongs to the peptidase C1 family.

Structures (PDB)

Domains

Other features

Signal peptide: 1-24

Dipeptidyl-peptidase 1 exclusion domain chain: 25-134

Propeptide: 135-230

Dipeptidyl-peptidase 1 heavy chain: 231-394

Dipeptidyl-peptidase 1 light chain: 395-463

Chloride binding site: 302

Chloride; via amide nitrogen binding site: 304

Chloride binding site: 347

Disulfide bond: 30-118

Disulfide bond: 54-136

Disulfide bond: 255-298

Disulfide bond: 291-331

Disulfide bond: 321-337

N-linked (glcnac...) glycosylation sites: 29,53,119,276

Other related resourses:

Expression pattern for human

Animal models

Mouse