CTSL (cathepsin L)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1514
Gene name Cathepsin L
Gene symbol CTSL
Synonyms (NCBI Gene)
CATLCTSL1MEP
Chromosome 9
Chromosome location 9q21.33
Summary The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
JUN Activation 9038212
SP1 Activation 11742542
SP3 Activation 11742542
STAT1 Unknown 11556541
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001968 Function Fibronectin binding IPI 22952693
GO:0002250 Process Adaptive immune response IEP 15196205
GO:0004197 Function Cysteine-type endopeptidase activity IBA
GO:0004197 Function Cysteine-type endopeptidase activity IDA 12809493, 14511383, 22952693
GO:0004197 Function Cysteine-type endopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
116880 2537 ENSG00000135047
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07711
Protein name Procathepsin L (EC 3.4.22.15) (Cathepsin L1) (Major excreted protein) (MEP) [Cleaved into: Cathepsin L; Cathepsin L heavy chain; Cathepsin L light chain]
Protein function Thiol protease important for the overall degradation of proteins in lysosomes (Probable). Plays a critical for normal cellular functions such as general protein turnover, antigen processing and bone remodeling. Involved in the solubilization of
PDB 1CJL , 1CS8 , 1ICF , 1MHW , 2NQD , 2VHS , 2XU1 , 2XU3 , 2XU4 , 2XU5 , 2YJ2 , 2YJ8 , 2YJ9 , 2YJB , 2YJC , 3BC3 , 3H89 , 3H8B , 3H8C , 3HHA , 3HWN , 3IV2 , 3K24 , 3KSE , 3OF8 , 3OF9 , 4AXL , 4AXM , 5F02 , 5I4H , 5MAE , 5MAJ , 5MQY , 6EZP , 6EZX , 6F06 , 6JD0 , 6JD8 , 7QKB , 7QKC , 7QKD , 7W33 , 7W34 , 7Z3T , 7Z58 , 7ZS7 , 7ZVF , 7ZXA , 8A4U , 8A4V , 8A4W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08246 Inhibitor_I29 29 → 88 Cathepsin propeptide inhibitor domain (I29) Domain
PF00112 Peptidase_C1 114 → 332 Papain family cysteine protease Domain
Sequence
Sequence length 333
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Autophagy - animal
Lysosome
Phagosome
Apoptosis
Antigen processing and presentation
Proteoglycans in cancer
Rheumatoid arthritis
Fluid shear stress and atherosclerosis 		  Collagen degradation
Degradation of the extracellular matrix
Trafficking and processing of endosomal TLR
Assembly of collagen fibrils and other multimeric structures
MHC class II antigen presentation
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Uncertain significance rs367983711 RCV005927225
Show/Hide Text Mining Associations (97)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28751461
Adenocarcinoma of Lung Associate 37458771
Alzheimer Disease Associate 10936693, 34905652
Aneurysm Associate 18155003
Anosmia Associate 32705281
Aortic Aneurysm Abdominal Associate 17322367, 22804761, 23958260, 24833013
Aortic Aneurysm Familial Abdominal 1 Associate 18155003
Aortic Aneurysm Familial Abdominal 1 Stimulate 23958260
Arthritis Associate 24315997
Arthritis Juvenile Associate 12389647