InnateDB Protein
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IDBP-593751.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CTSC
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Protein Name
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cathepsin C
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Synonyms
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CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD; PALS; PDON1; PLS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000433539
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InnateDB Gene
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IDBG-67143 (CTSC)
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Protein Structure
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Function |
Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. 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. {ECO:0000269PubMed:1586157}.
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Subcellular Localization |
Lysosome.
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Disease Associations |
Papillon-Lefevre syndrome (PLS) [MIM:245000]: An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. {ECO:0000269PubMed:10581027, ECO:0000269PubMed:10662808, ECO:0000269PubMed:11106356, ECO:0000269PubMed:11158173, ECO:0000269PubMed:11180012, ECO:0000269PubMed:11180601, ECO:0000269PubMed:11886537, ECO:0000269PubMed:12112662, ECO:0000269PubMed:12809647, ECO:0000269PubMed:14974080, ECO:0000269PubMed:15108292, ECO:0000269PubMed:15991336}. Note=The disease is caused by mutations affecting the gene represented in this entry.Haim-Munk syndrome (HMS) [MIM:245010]: An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. {ECO:0000269PubMed:10662807}. Note=The disease is caused by mutations affecting the gene represented in this entry.Periodontititis, aggressive, 1 (AP1) [MIM:170650]: A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting. {ECO:0000269PubMed:10662808, ECO:0000269PubMed:14974080}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. {ECO:0000269PubMed:9092576}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
14
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR014882
Cathepsin C exclusion
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PFAM |
PF08773
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P53634
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PhosphoSite |
PhosphoSite-P53634
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TrEMBL |
I3V9T0
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UniProt Splice Variant |
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Entrez Gene |
1075
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UniGene |
Hs.597318
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RefSeq |
NP_001107645
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HUGO |
HGNC:2528
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OMIM |
602365
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CCDS |
CCDS44693
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HPRD |
03841
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IMGT |
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EMBL |
AC011088
AF234263
AF234264
AF254757
AF525032
AF525033
AK223038
AK292117
AK311923
BC054028
BC100891
BC100892
BC100893
BC100894
BC109386
BC110071
BC113850
BC113897
BX537913
CH471185
JQ763335
JQ763337
JQ763338
JQ763339
JQ763341
U79415
X87212
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GenPept |
AAC51341
AAH54028
AAI00892
AAI00893
AAI00894
AAI00895
AAI09387
AAI10072
AAI13851
AAI13898
AAL48191
AAL48192
AAL48195
AAQ08887
AAQ08888
AFK75987
AFK75989
AFK75990
AFK75991
AFK75993
BAD96758
BAF84806
BAG34864
CAA60671
CAD97897
EAW59364
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