QuickView for JPD (gene)

Gene Symbol:

CTSC Homo sapiens

Full name:

cathepsin C

Synonyms:

CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS, dipeptidyl peptidase 1, cathepsin J, dipeptidyl transferase, dipeptidyl-peptidase I

Genomic Location:

Chr 11: 87666408-87710586

Description:

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 variants, at least one of which encodes a preproprotein that is proteolytically processed to gen...

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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 variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTTTGA_LEF1_Q2 ,  GGATTA_PITX2_Q2 ,  HLF_01 ,  TGACATY_UNKNOWN

Cytogenetic Map:

11q14.2

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