Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1520
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Cathepsin S |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CTSS |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
- |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q21.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The preproprotein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that participates in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The mature protein cleaves t |
UniProt ID |
P25774
|
Protein name |
Cathepsin S (EC 3.4.22.27) |
Protein function |
Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules and MHC class II antigen presentation (PubMed:30612035). The bond-specificity of this proteinase is in part similar to the specificities |
PDB |
1GLO
,
1MS6
,
1NPZ
,
1NQC
,
2C0Y
,
2F1G
,
2FQ9
,
2FRA
,
2FRQ
,
2FT2
,
2FUD
,
2FYE
,
2G6D
,
2G7Y
,
2H7J
,
2HH5
,
2HHN
,
2HXZ
,
2OP3
,
2R9M
,
2R9N
,
2R9O
,
3IEJ
,
3N3G
,
3N4C
,
3OVX
,
4P6E
,
4P6G
,
5QBU
,
5QBV
,
5QBW
,
5QBX
,
5QBY
,
5QBZ
,
5QC0
,
5QC1
,
5QC2
,
5QC3
,
5QC4
,
5QC5
,
5QC6
,
5QC7
,
5QC8
,
5QC9
,
5QCA
,
5QCB
,
5QCC
,
5QCD
,
5QCE
,
5QCF
,
5QCG
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF08246
|
Inhibitor_I29 |
28 → 88 |
Cathepsin propeptide inhibitor domain (I29) |
Domain |
PF00112
|
Peptidase_C1 |
115 → 330 |
Papain family cysteine protease |
Domain |
|
Sequence |
|
Sequence length |
331 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Basal cell neoplasm |
Basal Cell Neoplasm, Basal Cell Cancer |
rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 |
31174203 |
Carcinoma |
Basal cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
31174203 |
Dermatitis |
Contact Dermatitis |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
25724174 |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
21156398 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
AA amyloidosis |
Associate
|
1837142 |
Adenocarcinoma |
Associate
|
25348778 |
Alzheimer Disease |
Associate
|
1837142, 39740768, 7575468, 7717452 |
Amniotic Band Syndrome |
Associate
|
27452435 |
Amyotrophic Lateral Sclerosis |
Associate
|
33892821, 39740768 |
Aneurysm |
Associate
|
18155003 |
Aortic Aneurysm Abdominal |
Associate
|
17322367, 22804761, 24833013 |
Aortic Aneurysm Familial Abdominal 1 |
Associate
|
18155003 |
Arthritis |
Associate
|
31553637 |
Arthritis Gouty |
Stimulate
|
37069596 |
Arthritis Rheumatoid |
Associate
|
11920402 |
Asthma |
Associate
|
27249607, 40615557 |
Astrocytoma |
Associate
|
12819022, 19434518 |
Atherosclerosis |
Associate
|
32469254, 34925641 |
Barrett Esophagus |
Associate
|
25348778 |
Breast Neoplasms |
Associate
|
27592448 |
Calcinosis |
Associate
|
31461977 |
Carcinoma Renal Cell |
Associate
|
31438640, 40256740 |
Carpal Tunnel Syndrome |
Associate
|
37878141 |
Central Nervous System Diseases |
Associate
|
27344170 |
Colorectal Neoplasms |
Associate
|
21989182, 23443137, 29516317 |
Coronary Artery Disease |
Associate
|
32469254 |
COVID 19 |
Associate
|
34895912 |
Crohn Disease |
Associate
|
23437289 |
Cystic Disease Of Lung |
Associate
|
24940638 |
Cystic Fibrosis |
Stimulate
|
24940638 |
Death |
Associate
|
31844116, 34895912 |
Dermatitis Atopic |
Associate
|
34208434 |
Diabetes Gestational |
Stimulate
|
31880859 |
Diabetes Mellitus |
Associate
|
36982499 |
Diabetes Mellitus Type 2 |
Associate
|
33062070 |
Diabetic Nephropathies |
Associate
|
37492198 |
Diabetic Retinopathy |
Associate
|
37773794 |
Down Syndrome |
Associate
|
7717452 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
23997112 |
Dry Eye Syndromes |
Associate
|
36208723 |
Early Onset Glaucoma |
Associate
|
31844116 |
Gaucher Disease |
Stimulate
|
10961902 |
Gaucher Disease |
Associate
|
31358474 |
Genital Neoplasms Female |
Associate
|
39264885 |
Glioblastoma |
Associate
|
19434518, 36552871 |
Glioma |
Associate
|
19434518, 9153291 |
Glomerulonephritis Membranous |
Associate
|
34819020 |
Granuloma |
Associate
|
32476947 |
Heart Failure |
Associate
|
25496327, 31844116 |
Helicobacter Infections |
Associate
|
35617240 |
Hemolysis |
Associate
|
29365317 |
Hereditary leiomyomatosis and renal cell cancer |
Associate
|
18070985 |
Heredodegenerative Disorders Nervous System |
Associate
|
27344170 |
Hyperglycemia |
Associate
|
36982499 |
Hyperglycemic Hyperosmolar Nonketotic Coma |
Associate
|
36982499 |
Hypoxia |
Associate
|
33062070 |
IgA Vasculitis |
Associate
|
11920402 |
Infections |
Associate
|
32966582 |
Inflammation |
Associate
|
29365317, 30423938, 31880859, 33062070, 36982499 |
Intervertebral Disc Degeneration |
Associate
|
36081453 |
Intracranial Arteriosclerosis |
Associate
|
30341237 |
Kidney Diseases |
Associate
|
35881699 |
Leukemia B Cell |
Associate
|
14550545 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
27802179 |
Liver Neoplasms |
Associate
|
26301107 |
Lung Diseases |
Stimulate
|
32476947 |
Lupus Erythematosus Systemic |
Associate
|
39290707 |
Lymphatic Metastasis |
Associate
|
29749483 |
Lymphoma Follicular |
Associate
|
32396854 |
Melanoma |
Associate
|
18343923 |
Moyamoya Disease |
Associate
|
39290707 |
Muscular Atrophy |
Associate
|
18941855 |
Myocardial Infarction |
Stimulate
|
29611169 |
Neoplasm Metastasis |
Associate
|
27058412, 27683953, 31438640, 37439806 |
Neoplasms |
Associate
|
19434518, 21989182, 31659097, 36322753 |
Neoplasms |
Stimulate
|
27058412 |
Neoplasms Adipose Tissue |
Associate
|
22844403 |
Neuroblastoma |
Associate
|
25883214 |
Neurodegenerative Diseases |
Associate
|
39740768 |
Neuroinflammatory Diseases |
Associate
|
35732154 |
Obesity |
Stimulate
|
16034612 |
Obesity |
Associate
|
22844403 |
Osteoarthritis |
Associate
|
11920402 |
Osteoporosis |
Associate
|
32176315 |
Parkinson Disease |
Associate
|
39740768 |
Periodontitis |
Associate
|
26334995 |
Plaque Atherosclerotic |
Associate
|
21720908, 9691094 |
Polycystic Kidney Autosomal Dominant |
Associate
|
9066978 |
Popliteal Artery Aneurysm |
Associate
|
20488324 |
Prostatic Neoplasms |
Associate
|
31337649 |
Pruritus |
Associate
|
34208434 |
Pulmonary Atelectasis |
Associate
|
32561683 |
Pulmonary Disease Chronic Obstructive |
Stimulate
|
17878156 |
Pulmonary Disease Chronic Obstructive |
Associate
|
29976774, 31553637 |
Renal Insufficiency Chronic |
Associate
|
35705063 |
Rupture |
Associate
|
17322367 |
Sarcoidosis |
Stimulate
|
32476947 |
Sarcoidosis Pulmonary |
Stimulate
|
39364409 |
Sjogren's Syndrome |
Stimulate
|
30423938 |
Sleep Apnea Obstructive |
Associate
|
33062070 |
ST Elevation Myocardial Infarction |
Associate
|
29611169 |
Stomach Neoplasms |
Stimulate
|
27058412 |
Stomach Neoplasms |
Associate
|
35617240 |
Synovial Cyst |
Associate
|
10446855 |
Tarlov Cysts |
Associate
|
37830980 |
Thalassemia |
Stimulate
|
29365317 |
Thyroid Cancer Papillary |
Associate
|
29749483 |
Uterine Cervical Neoplasms |
Associate
|
15989693, 31748500 |
Uveal melanoma |
Associate
|
19273215 |
Vascular Calcification |
Associate
|
31461977 |
Virus Diseases |
Associate
|
21257972 |
Weight Gain |
Associate
|
22844403 |
Weight Loss |
Associate
|
22844403 |
|