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
Show/Hide all (4)
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
Show/Hide all (60)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENINGIOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROTEINURIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (217)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 29345177
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 9311587
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27327955
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 11556541
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10936693, 34905652 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28743265
★★★★★
★☆☆☆☆
Found in Text Mining only
Aneurysm Aneurysm Pubtator 18155003 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioblastic Meningioma Angioblastic Meningioma CTD_human_DG 19747051
★★★★★
★☆☆☆☆
Found in Text Mining only
Angiomatous Meningioma Angiomatous Meningioma CTD_human_DG 19747051
★★★★★
★☆☆☆☆
Found in Text Mining only
Anosmia Anosmia Pubtator 32705281 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only