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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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P53634 |
| Protein name |
Dipeptidyl peptidase 1 (EC 3.4.14.1) (Cathepsin C) (Cathepsin J) (Dipeptidyl peptidase I) (DPP-I) (DPPI) (Dipeptidyl transferase) [Cleaved into: Dipeptidyl peptidase 1 exclusion domain chain (Dipeptidyl peptidase I exclusion domain chain); Dipeptidyl pept |
| Protein function |
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 a |
| PDB |
1K3B
, 2DJF
, 2DJG
, 3PDF
, 4CDC
, 4CDD
, 4CDE
, 4CDF
, 4OEL
, 4OEM
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF08773 |
CathepsinC_exc |
25 → 141 |
Cathepsin C exclusion domain |
Domain |
| PF00112 |
Peptidase_C1 |
231 → 458 |
Papain family cysteine protease |
Domain |
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| Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. {ECO:0000269|PubMed:9092576}. |
| Sequence |
|
| Sequence length |
463 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| CTSC-related disorder |
Likely pathogenic; Pathogenic |
rs104894210, rs199474831 |
RCV004758590 RCV004031252 |
| Haim-Munk syndrome |
Pathogenic; Likely pathogenic |
rs766114323, rs2496556146, rs1408095438, rs2496556090, rs2134770866, rs2496533083, rs587777533, rs587777534, rs1044703733, rs34876841, rs754779432, rs1937786065, rs766504984, rs778236403, rs1409888746, rs1938536859, rs2496540657, rs1434894149, rs2496532669, rs104894206, rs104894207, rs104894209, rs587776655, rs104894210, rs104894214, rs104894211, rs1260896676, rs866021264, rs2496620499, rs767396820, rs2496555992, rs887942959, rs2496556141, rs2496561928, rs749103588, rs202160994, rs2496632149, rs758017974, rs2496540442, rs2496562331, rs1944274161, rs2496532700, rs756656101, rs2496540747, rs2496528837, rs1937699293, rs2496562015, rs2496561722, rs1171989505, rs2496529099, rs1343944955, rs2496532776, rs2496540540, rs2496619764, rs148742372, rs775385114, rs772132996, rs2496532792, rs201990020, rs199474831, rs2496529286 View all (46 more) |
RCV001388606 RCV002044609 RCV001921432 RCV001915195 RCV001970043 RCV002047393 RCV001043532 RCV002514705 RCV003037422 RCV003058346 RCV003058347 RCV003079128 RCV003076204 RCV003086534 RCV002643881 RCV002618664 RCV002622676 RCV002780021 RCV002814679 RCV001040162 RCV005222671 RCV003764534 RCV001851724 RCV003764536 RCV001204386 RCV002512877 RCV005003055 RCV003797919 RCV003782822 RCV003782911 RCV003782948 RCV003783581 RCV003783584 RCV003783585 RCV003783586 RCV003783587 RCV003783588 RCV003793369 RCV003779994 RCV003787847 RCV003786609 RCV003793902 RCV003806200 RCV003800057 RCV003805794 RCV003803725 RCV003790810 RCV003798952 RCV003802680 RCV003808538 RCV003802271 RCV003802326 RCV003802378 RCV003802460 RCV003815446 RCV003813426 RCV003807446 RCV003807597 RCV003812792 RCV001860488 RCV003767920 RCV000697206 RCV000807445 RCV001041477 RCV001204356 |
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Pathogenic; Likely pathogenic |
rs766114323, rs2496556146, rs1408095438, rs2496556090, rs2134770866, rs2496533083, rs587777532, rs587777533, rs587777534, rs2496562224, rs2496556240, rs1044703733, rs34876841, rs754779432, rs1937786065, rs766504984, rs778236403, rs1409888746, rs1938536859, rs2496540657, rs1434894149, rs2496532669, rs104894206, rs587776654, rs104894207, rs104894209, rs587776655, rs104894210, rs104894214, rs104894215, rs104894211, rs2496555907, rs1260896676, rs866021264, rs2496620499, rs767396820, rs2496555992, rs887942959, rs2496556141, rs2496561928, rs749103588, rs202160994, rs2496632149, rs758017974, rs2496540442, rs2496562331, rs1944274161, rs2496532700, rs756656101, rs2496540747, rs2496528837, rs1937699293, rs2496562015, rs2496561722, rs1171989505, rs2496529099, rs1343944955, rs2496532776, rs2496540540, rs2496619764, rs148742372, rs775385114, rs772132996, rs2496532792, rs201990020, rs2496532756, rs199474831, rs2496529286 View all (53 more) |
RCV001388606 RCV002044609 RCV001921432 RCV001915195 RCV001970043 RCV002047393 RCV000128618 RCV000128619 RCV000779084 RCV002226632 RCV002251012 RCV003037422 RCV003058346 RCV003058347 RCV003079128 RCV003076204 RCV003086534 RCV002643881 RCV002618664 RCV002622676 RCV002780021 RCV002814679 RCV000007712 RCV000007713 RCV000007714 RCV000007715 RCV000007716 RCV000007719 RCV000007720 RCV000007721 RCV000128617 RCV003158019 RCV003324436 RCV003797919 RCV003782822 RCV003782911 RCV003782948 RCV003783581 RCV003783584 RCV003783585 RCV003783586 RCV003783587 RCV003783588 RCV003793369 RCV003779994 RCV003787847 RCV003786609 RCV003793902 RCV003806200 RCV003800057 RCV003805794 RCV003803725 RCV003790810 RCV003798952 RCV003802680 RCV003808538 RCV003802271 RCV003802326 RCV003802378 RCV003802460 RCV003815446 RCV003813426 RCV003807446 RCV003807597 RCV003812792 RCV004557241 RCV001860488 RCV001332042 RCV000697206 RCV000807445 RCV001007574 RCV001041477 RCV001204356 |
| Periodontitis, aggressive 1 |
Pathogenic; Likely pathogenic |
rs766114323, rs2496556146, rs1408095438, rs2496556090, rs2134770866, rs2496533083, rs587777533, rs587777534, rs1044703733, rs34876841, rs754779432, rs1937786065, rs766504984, rs778236403, rs1409888746, rs1938536859, rs2496540657, rs1434894149, rs2496532669, rs104894206, rs104894207, rs104894209, rs587776655, rs104894210, rs104894214, rs28937571, rs104894211, rs1260896676, rs866021264, rs2496620499, rs767396820, rs2496555992, rs887942959, rs2496556141, rs2496561928, rs749103588, rs202160994, rs2496632149, rs758017974, rs2496540442, rs2496562331, rs1944274161, rs2496532700, rs756656101, rs2496540747, rs2496528837, rs1937699293, rs2496562015, rs2496561722, rs1171989505, rs2496529099, rs1343944955, rs2496532776, rs2496540540, rs2496619764, rs148742372, rs775385114, rs772132996, rs2496532792, rs201990020, rs199474831, rs2496529286 View all (47 more) |
RCV001388606 RCV002044609 RCV001921432 RCV001915195 RCV001970043 RCV002047393 RCV001043532 RCV000128620 RCV003037422 RCV003058346 RCV003058347 RCV003079128 RCV003076204 RCV003086534 RCV002643881 RCV002618664 RCV002622676 RCV002780021 RCV002814679 RCV001040162 RCV005222671 RCV003764534 RCV001851724 RCV003764536 RCV001204386 RCV000007723 RCV000007724 RCV005003055 RCV003797919 RCV003782822 RCV003782911 RCV003782948 RCV003783581 RCV003783584 RCV003783585 RCV003783586 RCV003783587 RCV003783588 RCV003793369 RCV003779994 RCV003787847 RCV003786609 RCV003793902 RCV003806200 RCV003800057 RCV003805794 RCV003803725 RCV003790810 RCV003798952 RCV003802680 RCV003808538 RCV003802271 RCV003802326 RCV003802378 RCV003802460 RCV003815446 RCV003813426 RCV003807446 RCV003807597 RCV003812792 RCV001860488 RCV000661991 RCV000697206 RCV000807445 RCV001041477 RCV001204356 |
| See cases |
Likely pathogenic; Pathogenic |
rs1044703733 |
RCV004798020 |
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| Disease Name |
Relationship Type |
References |
| Acrocephalosyndactylia |
Associate |
11106356 |
| Aggressive Periodontitis |
Associate |
10662808, 26607765, 34515563 |
| Alzheimer Disease |
Associate |
37925455 |
| Asthma |
Associate |
15038835, 37438356 |
| Carcinoma Adenosquamous |
Associate |
34326696 |
| Carcinoma Hepatocellular |
Associate |
36189226 |
| Carcinoma Renal Cell |
Associate |
26575290, 32331211 |
| Congenital Disorders of Glycosylation |
Associate |
37069668 |
| Death Sudden Cardiac |
Stimulate |
34737793 |
| Dihydropyrimidine Dehydrogenase Deficiency |
Associate |
20797317 |
| Esophageal Squamous Cell Carcinoma |
Associate |
39840762 |
| Frontotemporal Dementia |
Associate |
24943344 |
| Glioma |
Associate |
33946049 |
| Hyperkeratosis Epidermolytic |
Associate |
16585980 |
| Hypersensitivity Immediate |
Associate |
15585850 |
| Infections |
Associate |
17220626 |
| Inflammation |
Associate |
11886537, 12857359, 34737793 |
| Keratosis palmoplantaris with periodontopathia and onychogryposis |
Associate |
10662808, 21393975, 31557781 |
| Liver Neoplasms |
Associate |
26301107 |
| Lymphoma |
Associate |
33883344 |
| Lymphoma B Cell |
Associate |
33883344 |
| Muscular Dystrophy Duchenne |
Associate |
6773986 |
| Narcolepsy |
Associate |
37188663 |
| Narcolepsy 1 |
Associate |
37188663 |
| Neoplasms |
Associate |
30008265 |
| Papillon Lefevre Disease |
Associate |
10593994, 11158173, 11180012, 11886537, 12857359, 15585850, 16585980, 16926422, 17943190, 18791284, 19816003, 20236208, 20359428, 20797317, 23311634, 23397598, 23904161, 25244092, 25244098, 25260376, 25799584, 33586345, 34513733, 34932608, 35292437 View all (10 more) |
| Papillon Lefevre Disease |
Inhibit |
11106356, 39455238 |
| Paraparesis Tropical Spastic |
Associate |
36052089 |
| Periodontal Diseases |
Associate |
10593994, 25260376 |
| Periodontitis |
Associate |
10662808, 12857359, 20359428, 34515563, 34932608 |
| Pulmonary Atelectasis |
Associate |
32561683 |
| Status Asthmaticus |
Associate |
15038835 |
| Tooth Injuries |
Associate |
26607765 |
| Vasculitis |
Associate |
29925593, 35292437 |
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