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 m... See more...

Aliases for CTSL Gene

Aliases for CTSL Gene

  • Cathepsin L 2 3 4 5
  • Cathepsin L1 2 3 4
  • Major Excreted Protein 3 4
  • EC 3.4.22.15 4 51
  • CTSL1 3 4
  • MEP 3 4
  • EC 3.4.22 51
  • FLJ31037 2
  • CATL 3
  • CTSL 5

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. Additionally, this protein may be necessary for entry of SARS-CoV-2 (COVID-19 virus) into the cell. [provided by RefSeq, May 2020]

GeneCards Summary for CTSL Gene

CTSL (Cathepsin L) is a Protein Coding gene. Diseases associated with CTSL include Covid-19 and Vulva Basal Cell Carcinoma. Among its related pathways are Lysosome and Degradation of the extracellular matrix. 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 Summary for CTSL Gene

  • Thiol protease important for the overall degradation of proteins in lysosomes (Probable). Involved in the solubilization of cross-linked TG/thyroglobulin and in the subsequent release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (By similarity).

Gene Wiki entry for CTSL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTSL Gene

Genomics for CTSL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTSL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTSL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTSL

Genomic Locations for CTSL Gene

Genomic Locations for CTSL Gene
chr9:87,726,109-87,731,469
(GRCh38/hg38)
Size:
5,361 bases
Orientation:
Plus strand
chr9:90,340,434-90,346,384
(GRCh37/hg19)
Size:
5,951 bases
Orientation:
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:
    P07711-CATL1_HUMAN
    Recommended name:
    Cathepsin L1
    Protein Accession:
    P07711
    Secondary Accessions:
    • Q6IAV1
    • Q96QJ0

    Protein attributes for CTSL Gene

    Size:
    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

P07711:
  • QNLVDCS
  • VDWREKG
  • QGQCGSC
  • VLVVGYG
  • CGSCWAF
  • CNGGLMD
  • EGQMFRKTG
  • WRRAVWEKN
  • VTPVKNQ
  • EEFRQVMNGFQN
  • ANDTGFVD
  • MNAFGDMT
  • GCNGGLM
  • GDMTSEE
  • ALMKAVA
  • YWLVKNS
  • DSEESYPY
  • GGLMDYAF
  • DTGFVDIP

Post-translational modifications for CTSL Gene

  • Glycosylation at Asn221
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CATL1_HUMAN (1081)

Antibody Products

Domains & Families for CTSL Gene

Gene Families for CTSL Gene

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

Protein Domains for CTSL Gene

InterPro:
Blocks:
  • Papain cysteine protease (C1) family signature
  • Proteinase inhibitor I29, cathepsin propeptide
ProtoNet:

Suggested Antigen Peptide Sequences for CTSL Gene

GenScript: Design optimal peptide antigens:
  • Cathepsin L1 (A5PLM9_HUMAN)
  • Major excreted protein (CATL1_HUMAN)
  • Cathepsin L, isoform CRA_b (Q9HBQ7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07711

UniProtKB/Swiss-Prot:

CATL1_HUMAN :
  • Belongs to the peptidase C1 family.
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

UniProtKB/Swiss-Prot Function:
Thiol protease important for the overall degradation of proteins in lysosomes (Probable). Involved in the solubilization of cross-linked TG/thyroglobulin and in the subsequent release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.4.22.15;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by CST6.
GENATLAS Biochemistry:
cathepsin L,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed,involved in matrix degradation during endochondral ossification

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 IMP 28743268
GO:0005515 protein binding IPI 12504904
GO:0005518 collagen binding IDA 22952693
GO:0008233 peptidase activity IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Lysosome. Apical cell membrane. Peripheral membrane protein. Extracellular side. Note=Localizes to the apical membrane of thyroid epithelial cells. {ECO:0000250 UniProtKB:P06797}.

Subcellular locations from

COMPARTMENTS
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
endosome 5
lysosome 5
plasma membrane 4
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Golgi apparatus (2)
See all subcellular structures

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 IBA,IDA 22952693
GO:0005634 nucleus TAS 21326229
GO:0005764 lysosome IBA,IDA 1837142
GO:0005771 multivesicular body IDA 22365146
genes like me logo Genes that share ontologies with CTSL: view

Pathways & Interactions for CTSL Gene

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

Pathways by source for CTSL Gene

2 GeneGo (Thomson Reuters) pathways for CTSL Gene
  • Bacterial infections in CF airways
  • Immune response Antigen presentation by MHC class II
1 GeneTex pathway for CTSL Gene

SIGNOR curated interactions for CTSL Gene

Activates:
Inactivates:

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 IEA,IDA 8811434
GO:0006955 immune response IBA 21873635
GO:0019882 antigen processing and presentation TAS 15196205
genes like me logo Genes that share ontologies with CTSL: view

Drugs & Compounds for CTSL Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Trastuzumab deruxtecan Approved, Investigational Pharma Enzyme, substrate 0
Cysteic acid Experimental Pharma Target 0
Felbinac Experimental Pharma Target 0
E 64d Pharma Cysteine protease inhibitor, Cathepsin inhibitor; interferes with autolysosomal digestion 0

(31) Additional Compounds for CTSL Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-L-leucyl-L-leucyl-L-methional
136632-32-1

(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

mRNA/cDNA for CTSL Gene

10 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for CTSL Gene

GeneLoc Exon Structure for
CTSL

Expression for CTSL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CTSL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTSL

Evidence on tissue expression from TISSUES for CTSL Gene

  • Liver(4.7)
  • Intestine(4.7)
  • Bone marrow(4.6)
  • Nervous system(4.2)
  • Lung(3.9)
  • Spleen(3.6)
  • Kidney(3.6)
  • Heart(3.5)
  • Muscle(3.4)
  • Lymph node(3.3)
  • Pancreas(3.1)
  • Skin(3)
  • Blood(3)
  • Thyroid gland(2.9)
  • Adrenal gland(2.8)
  • Bone(2.7)
  • Stomach(2.7)
  • Gall bladder(2.7)
  • Eye(2.6)
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
Chimpanzee
(Pan troglodytes)
Mammalia CTSL1 30 31
  • 99.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTSL1 30 31
  • 80.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTSL 31
  • 68 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctsll3 31
  • 66 (a)
OneToMany
BC051665 31
  • 64 (a)
OneToMany
4930486L24Rik 31
  • 62 (a)
OneToMany
Ctsm 31
  • 58 (a)
OneToMany
Cts8 31
  • 56 (a)
OneToMany
Ctsr 31
  • 55 (a)
OneToMany
Cts3 31
  • 54 (a)
OneToMany
Cts6 31
  • 54 (a)
OneToMany
Ctsj 31
  • 53 (a)
OneToMany
Ctsq 31
  • 50 (a)
OneToMany
Cts7 31
  • 50 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 65 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CTSL2 31
  • 66 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 58 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii ctsla 31
  • 65 (a)
ManyToMany
ctsll 31
  • 62 (a)
ManyToMany
si:dkey-269i1.4 31 31
  • 58 (a)
ManyToMany
si:dkey-26g8.5 31
  • 57 (a)
ManyToMany
ctslb 31 31 31
  • 57 (a)
ManyToMany
si:dkey-26g8.4 31
  • 57 (a)
ManyToMany
zgc:174153 31
  • 57 (a)
ManyToMany
si:dkey-269i1.3 31
  • 57 (a)
ManyToMany
zgc:174855 31
  • 57 (a)
ManyToMany
si:dkey-239j18.2 31
  • 57 (a)
ManyToMany
si:dkey-239j18.3 31
  • 57 (a)
ManyToMany
ctsl.1 31
  • 53 (a)
ManyToMany
Dr.26555 30
Fruit Fly
(Drosophila melanogaster)
Insecta Cp1 31 32
  • 49 (a)
OneToMany
CG4847 32
  • 42 (a)
26-29kD-proteinase 32
  • 37 (a)
CG11459 32
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea cpl-1 31 32
  • 49 (a)
OneToMany
R09F10.1 32
  • 36 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G50260 30
  • 53.61 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0556900 30
  • 51.18 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.12411 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
ManyToMany
CSA.11034 31
  • 50 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
Species where no ortholog for CTSL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for CTSL (if available)
TreeFam:
Gene Tree for CTSL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTSL: view image

Paralogs for CTSL Gene

Paralogs for CTSL Gene

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

  • CATL1_HUMAN
  • Q5T8F0_HUMAN
  • Q9HBQ7_HUMAN
genes like me logo Genes that share paralogs with CTSL: view

Variants for CTSL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTSL Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
733908 Benign: not provided 87,728,350(+) C/A MISSENSE_VARIANT,INTRON_VARIANT
753687 Likely Benign: not provided 87,730,448(+) A/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CTSL Gene

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)
CTSL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTSL

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

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

Disorder Aliases PubMed IDs
covid-19
  • 2019 novel coronavirus
vulva basal cell carcinoma
  • basal cell carcinoma of the vulva
gingival overgrowth
  • gingival enlargement
benign meningioma
  • meningioma, benign
middle east respiratory syndrome
  • mers
- 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 23
  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 23
  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 23
  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
  5. Stefin B interacts with histones and cathepsin L in the nucleus. (PMID: 20075068) Ceru S … Kopitar-Jerala N (The Journal of biological chemistry 2010) 3 23

Products for CTSL Gene

  • Addgene plasmids for CTSL

Sources for CTSL Gene