CTSL (cathepsin L)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1514
Gene name Gene Name - the full gene name approved by the HGNC.
Cathepsin L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTSL
Synonyms (NCBI Gene) Gene synonyms aliases
CATL, CTSL1, MEP
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
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 information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(51)
GO ID Ontology Definition Evidence Reference
GO:0001968 Function Fibronectin binding IPI 22952693
GO:0002224 Process Toll-like receptor signaling pathway TAS
GO:0002250 Process Adaptive immune response IEP 15196205
GO:0004197 Function Cysteine-type endopeptidase activity IBA 21873635
GO:0004197 Function Cysteine-type endopeptidase activity IDA 12809493, 14511383, 22952693
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
116880 2537 ENSG00000135047
Protein
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Gastric cancer Hereditary Diffuse Gastric Cancer rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)		 16367923
Meningioma Meningioma, Meningiomas, Multiple, Clear Cell Meningioma rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937
View all (3 more)		 19747051
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Microcystic meningioma Microcystic meningioma 19747051 ClinVar
Show/Hide Text Mining Associations (97)
Associations from Text Mining
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