Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1075 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Cathepsin C |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CTSC |
SynonymsGene synonyms aliases
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CPPI, DPP-I, DPP1, DPPI, HMS, JP, JPD, PALS, PDON1, PLS |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q14.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 v |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28937571 |
T>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs104894207 |
T>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs104894208 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs104894211 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs587777534 |
C>G,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs772132996 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1555025770 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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
|
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 |
|
Sequence |
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Sequence length |
463 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
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Dermatitis |
Dermatitis, Allergic Contact |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
17374397 |
Gastric cancer |
Hereditary Diffuse Gastric Cancer |
rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208 |
21364753 |
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
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Palmoplantar keratoderma |
Keratoderma, Palmoplantar |
rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561 |
11106356 |
Periodontitis |
Severe periodontitis, Periodontitis, Aggressive, 1 |
rs28937571, rs104894211, rs587777534 |
11106356, 27604308, 14974080, 10662808 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acrosteolysis |
Acro-Osteolysis |
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Aggressive periodontitis |
Aggressive Periodontitis |
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Arachnodactyly |
Arachnodactyly |
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Congenital palmoplantar keratosis |
Congenital palmoplantar keratosis |
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Gingival recession |
Gingival Recession |
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Gingivitis |
Gingivitis |
|
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Haim-monk syndrome |
Haim-Monk Syndrome |
|
10662807, 16008657 |
Haim-munk syndrome |
HAIM-MUNK SYNDROME |
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11106356, 10662807, 24966751, 27604308 |
Hypertrichosis |
Hypertrichosis |
|
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Marginal periodontitis |
Alveolar pyorrhea |
|
10662807 |
Myocardial ischemia |
Myocardial Ischemia |
|
16214533 |
Nail dystrophy |
Dystrophia unguium |
|
|
Onychogryposis |
Onychogryposis |
|
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Palmoplantar keratosis |
Palmoplantar Keratosis |
|
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Papillon-lefevre disease |
Papillon-Lefevre Disease, Papillon-Lefèvre syndrome |
|
14974080, 11886537, 16460249, 15991336, 16008657, 27604308, 24936511, 11106356, 11180012, 25799584, 10662807, 10581027, 12809647, 11180601, 11158173, 12112662, 15108292, 10662808 |
Periodontal diseases |
Periodontal Diseases |
|
10662807 |
Periodontosis |
Periodontosis |
|
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Stomach neoplasms |
Malignant neoplasm of stomach, Stomach Neoplasms |
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21364753 |
|
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