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Aliases for CTSL Gene

Aliases for CTSL Gene

  • Cathepsin L 2 3 4 5
  • Major Excreted Protein 3 4
  • Cathepsin L1 2 3
  • EC 4 56
  • CTSL1 3 4
  • MEP 3 4
  • EC 3.4.22 56
  • CATL 3

External Ids for CTSL Gene

Previous HGNC Symbols for CTSL Gene

  • CTSL1

Previous GeneCards Identifiers for CTSL Gene

  • GC09P081384
  • GC09P082193
  • GC09P083896
  • GC09P085798
  • GC09P087570
  • GC09P089530
  • GC09P090352

Summaries for CTSL Gene

Entrez Gene Summary for CTSL 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 elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for CTSL Gene

CTSL (Cathepsin L) is a Protein Coding gene. Diseases associated with CTSL include Tracheal Cancer and Eccrine Acrospiroma. Among its related pathways are Bacterial infections in CF airways and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include histone binding and cysteine-type peptidase activity. An important paralog of this gene is CTSV.

UniProtKB/Swiss-Prot for CTSL Gene

  • Important for the overall degradation of proteins in lysosomes.

Gene Wiki entry for CTSL Gene

Additional gene information for CTSL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSL Gene

Genomics for CTSL Gene

GeneHancer (GH) Regulatory Elements for CTSL Gene

Promoters and enhancers for CTSL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I087725 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.4 +1.3 1329 3.3 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SP3 NFYC CTSL NXNL2 LOC649166 GC09P087714
GH09I087710 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 30.7 -11.9 -11909 7.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 E2F8 FOS GC09P087714 CTSL LOC649166 NXNL2 DAPK1 GC09P087601
GH09I087791 Enhancer 1.5 FANTOM5 Ensembl ENCODE 15.8 +67.5 67528 2.8 PKNOX1 FOXA2 SIN3A YY1 POLR2B ZNF766 FOS DEK SP5 JUNB CTSL ENSG00000214888 DAPK1 CTSL3P ELF2P3
GH09I087685 Enhancer 1 FANTOM5 Ensembl ENCODE 18 -39.6 -39579 1.5 CTCF STAT1 FOXA2 RXRA MAX RAD21 NR2F2 ZNF316 NFE2 EMSY CTSL GC09P087714 GC09P087601 DAPK1
GH09I087812 Enhancer 1 FANTOM5 Ensembl 17.5 +87.4 87354 0.7 CTCF ARNT NFRKB TEAD4 MAX RAD21 RFX5 CC2D1A EGR1 ARID2 CTSL DAPK1 ELF2P3 LOC100420576 FBP2P1 CTSL3P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTSL on UCSC Golden Path with GeneCards custom track

Genomic Locations for CTSL Gene

Genomic Locations for CTSL Gene
5,951 bases
Plus strand

Genomic View for CTSL Gene

Genes around CTSL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTSL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSL Gene

Proteins for CTSL Gene

  • Protein details for CTSL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cathepsin L1
    Protein Accession:
    Secondary Accessions:
    • Q6IAV1
    • Q96QJ0

    Protein attributes for CTSL Gene

    333 amino acids
    Molecular mass:
    37564 Da
    Quaternary structure:
    • Dimer of a heavy and a light chain linked by disulfide bonds.

    Three dimensional structures from OCA and Proteopedia for CTSL Gene

neXtProt entry for CTSL Gene

Selected DME Specific Peptides for CTSL Gene


Post-translational modifications for CTSL Gene

  • Glycosylation at posLast=221221
  • Modification sites at PhosphoSitePlus

Protein Products

Domains & Families for CTSL Gene

Gene Families for CTSL Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CTSL Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase C1 family.
  • Belongs to the peptidase C1 family.
genes like me logo Genes that share domains with CTSL: view

Function for CTSL Gene

Molecular function for CTSL Gene

GENATLAS Biochemistry:
cathepsin L,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed,involved in matrix degradation during endochondral ossification
UniProtKB/Swiss-Prot CatalyticActivity:
Specificity close to that of papain. As compared to cathepsin B, cathepsin L exhibits higher activity toward protein substrates, but has little activity on Z-Arg-Arg-NHMec, and no peptidyl-dipeptidase activity.
UniProtKB/Swiss-Prot Function:
Important for the overall degradation of proteins in lysosomes.

Enzyme Numbers (IUBMB) for CTSL Gene

Phenotypes From GWAS Catalog for CTSL Gene

Gene Ontology (GO) - Molecular Function for CTSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding IPI 22952693
GO:0004197 cysteine-type endopeptidase activity IDA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 12504904
GO:0005518 collagen binding IDA 22952693
genes like me logo Genes that share ontologies with CTSL: view
genes like me logo Genes that share phenotypes with CTSL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CTSL

miRNA for CTSL Gene

miRTarBase miRNAs that target CTSL

Clone Products

  • Addgene plasmids for CTSL

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTSL Gene

Localization for CTSL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSL Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTSL gene
Compartment Confidence
extracellular 5
nucleus 5
lysosome 5
endosome 5
plasma membrane 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CTSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 22952693
GO:0005634 nucleus TAS 21326229
GO:0005764 lysosome IEA,IDA 1837142
GO:0036021 endolysosome lumen TAS --
genes like me logo Genes that share ontologies with CTSL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTSL Gene

Pathways & Interactions for CTSL Gene

genes like me logo Genes that share pathways with CTSL: view

Gene Ontology (GO) - Biological Process for CTSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002250 adaptive immune response IEP 15196205
GO:0006508 proteolysis IDA,IEA 8811434
GO:0019882 antigen processing and presentation TAS 15196205
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with CTSL: view

No data available for SIGNOR curated interactions for CTSL Gene

Drugs & Compounds for CTSL Gene

(44) Drugs for CTSL Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteinesulfonic Acid Experimental Pharma Target 0
Felbinac Experimental Pharma Target 0
E 64d Pharma Cysteine protease inhibitor, Cathepsin inhibitor; interferes with autolysosomal digestion 0
Calpain Inhibitor I, ALLN Pharma Calpain I/II/ B/L inhibitor 0
Calpain Inhibitor II, ALLM Pharma Calpain inhibitor 0

(30) Additional Compounds for CTSL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for CTSL Gene

Compound Action Cas Number
E 64d Cathepsin inhibitor; interferes with autolysosomal digestion 88321-09-9
L 006235 Potent cathepsin K inhibitor 294623-49-7
N-Acetyl-L-leucyl-L-leucyl-L-methional Cathepsin inhibitor 136632-32-1
SID 26681509 Cathepsin L inhibitor 958772-66-2

(9) ApexBio Compounds for CTSL Gene

Compound Action Cas Number
Calpain Inhibitor I, ALLN Calpain I/II/ B/L inhibitor 110044-82-1
Calpain Inhibitor II, ALLM Calpain inhibitor 136632-32-1
Cathepsin Inhibitor 1 Cathepsin inhibitor 225120-65-0
E 64d Cysteine protease inhibitor 88321-09-9
E-64 Cysteine protease inhibitor,irriversible 66701-25-5
E-64-c Inhibitor of cysteine proteinases 76684-89-4
Odanacatib (MK-0822) Cathepsin K,potent and selective 603139-19-1
Papain Inhibitor Inhibitor of peptidase activity of Papain 70195-20-9
SID 26681509 Human cathepsin L inhibitor,potent and reversible 958772-66-2
genes like me logo Genes that share compounds with CTSL: view

Drug Products

Transcripts for CTSL Gene

Clone Products

  • Addgene plasmids for CTSL

Alternative Splicing Database (ASD) splice patterns (SP) for CTSL Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a ·
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - -
SP9: - - - - - -
SP10: - - - - - - - - -
SP11: -
SP12: - - - - - - - - -
SP13: - - - - - - -
SP14: - - - -
SP15: -

ExUns: 9b ^ 10

Relevant External Links for CTSL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTSL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTSL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTSL Gene

This gene is overexpressed in Amniocyte (12.9) and Lung (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTSL Gene

NURSA nuclear receptor signaling pathways regulating expression of CTSL Gene:


Evidence on tissue expression from TISSUES for CTSL Gene

  • Liver(4.7)
  • Intestine(4.6)
  • Bone marrow(4.5)
  • Nervous system(4)
  • Lung(3.9)
  • Kidney(3.3)
  • Spleen(3.3)
  • Heart(3.1)
  • Muscle(3.1)
  • Lymph node(2.9)
  • Blood(2.5)
  • Pancreas(2.5)
  • Thyroid gland(2.5)
  • Skin(2.4)
  • Adrenal gland(2.3)
  • Bone(2.3)
  • Stomach(2.2)
  • Eye(2)
genes like me logo Genes that share expression patterns with CTSL: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTSL Gene

Orthologs for CTSL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTSL1 33 34
  • 99.7 (n)
(Bos Taurus)
Mammalia CTSL1 33 34
  • 80.68 (n)
(Canis familiaris)
Mammalia CTSL 34
  • 68 (a)
(Mus musculus)
Mammalia Ctsll3 34
  • 66 (a)
BC051665 34
  • 64 (a)
4930486L24Rik 34
  • 62 (a)
Ctsm 34
  • 58 (a)
Cts8 34
  • 56 (a)
Ctsr 34
  • 55 (a)
Cts3 34
  • 54 (a)
Cts6 34
  • 54 (a)
Ctsj 34
  • 53 (a)
Cts7 34
  • 50 (a)
Ctsq 34
  • 50 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 63 (a)
(Gallus gallus)
Aves CTSL2 34
  • 66 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 58 (a)
(Danio rerio)
Actinopterygii ctsla 34
  • 65 (a)
ctsll 34
  • 62 (a)
si:dkey-239j18.2 34
  • 57 (a)
si:dkey-239j18.3 34
  • 57 (a)
si:dkey-269i1.3 34
  • 57 (a)
si:dkey-269i1.4 34 34
  • 57 (a)
si:dkey-26g8.4 34
  • 57 (a)
si:dkey-26g8.5 34
  • 57 (a)
zgc:174153 34
  • 57 (a)
zgc:174855 34
  • 57 (a)
ctslb 34 34 34
  • 55 (a)
ctsl.1 34
  • 53 (a)
Dr.26555 33
fruit fly
(Drosophila melanogaster)
Insecta Cp1 35 34
  • 54 (a)
CG4847 35
  • 42 (a)
26-29kD-proteinase 35
  • 37 (a)
CG11459 35
  • 37 (a)
(Caenorhabditis elegans)
Secernentea cpl-1 35 34
  • 50 (a)
R09F10.1 35
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G50260 33
  • 53.61 (n)
(Oryza sativa)
Liliopsida Os08g0556900 33
  • 51.18 (n)
(Hordeum vulgare)
Liliopsida Hv.12411 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
CSA.11034 34
  • 50 (a)
-- 34
  • 47 (a)
Species where no ortholog for CTSL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CTSL Gene

Gene Tree for CTSL (if available)
Gene Tree for CTSL (if available)

Paralogs for CTSL Gene

Paralogs for CTSL Gene

(10) SIMAP similar genes for CTSL Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CTSL: view

Variants for CTSL Gene

Sequence variations from dbSNP and Humsavar for CTSL Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000652961 -- 87,726,199(+) G/C 5_prime_UTR_variant
rs1001064493 -- 87,726,440(+) C/G intron_variant
rs1001286387 -- 87,723,958(+) A/G upstream_transcript_variant
rs1001584129 -- 87,729,841(+) T/G intron_variant
rs1002182287 -- 87,731,385(+) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CTSL Gene

Variant ID Type Subtype PubMed ID
esv2759703 CNV loss 17122850
nsv968717 CNV duplication 23825009

Variation tolerance for CTSL Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTSL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTSL Gene

Disorders for CTSL Gene

MalaCards: The human disease database

(34) MalaCards diseases for CTSL Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tracheal cancer
  • ca trachea
eccrine acrospiroma
  • eccrine hidradenoma
vulva basal cell carcinoma
  • basal cell carcinoma of the vulva
  • infection by fasciolopsis buski
gingival overgrowth
  • gingival enlargement
- elite association - COSMIC cancer census association via MalaCards
Search CTSL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTSL

genes like me logo Genes that share disorders with CTSL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTSL Gene

Publications for CTSL Gene

  1. The crystal structure of human cathepsin L complexed with E-64. (PMID: 9141479) Fujishima A … Sugawara T (FEBS letters 1997) 3 4 22 58
  2. Structure of human procathepsin L reveals the molecular basis of inhibition by the prosegment. (PMID: 8896443) Coulombe R … Cygler M (The EMBO journal 1996) 3 4 22 58
  3. Cloning, genomic organization, and chromosomal localization of human cathepsin L. (PMID: 8419312) Chauhan SS … Troen BR (The Journal of biological chemistry 1993) 2 3 22 58
  4. Complete nucleotide and deduced amino acid sequences of human and murine preprocathepsin L. An abundant transcript induced by transformation of fibroblasts. (PMID: 2835398) Joseph LJ … Sukhatme VP (The Journal of clinical investigation 1988) 2 3 4 58
  5. Cathepsin L, target in cancer treatment? (PMID: 19958782) Lankelma JM … Van Noorden CJ (Life sciences 2010) 3 22 58

Products for CTSL Gene

  • Addgene plasmids for CTSL

Sources for CTSL Gene

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