Human Gene CTSL (ENST00000343150.10) Description and Page Index
  Description: Homo sapiens cathepsin L (CTSL), transcript variant 1, mRNA. (from RefSeq NM_001912)
RefSeq Summary (NM_001912): 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].
Gencode Transcript: ENST00000343150.10
Gencode Gene: ENSG00000135047.15
Transcript (Including UTRs)
   Position: hg38 chr9:87,726,119-87,731,469 Size: 5,351 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr9:87,727,604-87,731,107 Size: 3,504 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr9:87,726,119-87,731,469)mRNA (may differ from genome)Protein (333 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHPRD
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Cathepsin L1; EC=; AltName: Full=Major excreted protein; Short=MEP; Contains: RecName: Full=Cathepsin L1 heavy chain; Contains: RecName: Full=Cathepsin L1 light chain; Flags: Precursor;
FUNCTION: Important for the overall degradation of proteins in lysosomes.
CATALYTIC ACTIVITY: 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.
SUBUNIT: Dimer of a heavy and a light chain linked by disulfide bonds.
INTERACTION: G5EFH4:srp-6 (xeno); NbExp=2; IntAct=EBI-1220160, EBI-1549936;
SIMILARITY: Belongs to the peptidase C1 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="";

-  MalaCards Disease Associations
  MalaCards Gene Search: CTSL
Diseases sorted by gene-association score: tracheal cancer (11), eccrine acrospiroma (11), vulva basal cell carcinoma (11), fasciolopsiasis (11), rectosigmoid junction neoplasm (10), gingival overgrowth (10), sparganosis (9), acute frontal sinusitis (9), benign meningioma (8), panophthalmitis (7), mandibular cancer (7), fiedler's myocarditis (7), lymphosarcoma (7), trachea adenoid cystic carcinoma (7), frontal sinusitis (6), severe acute respiratory syndrome (6), gnathomiasis (6), taeniasis (6), duodenal gastrinoma (6), jaw cancer (6), fascioliasis (5), renal tuberculosis (5), primary amebic meningoencephalitis (5), hemopneumothorax (5), clonorchiasis (5), purulent endophthalmitis (4), small intestine lymphoma (4), dirofilariasis (4), ischemia (4), brain germinoma (4), rheumatoid arthritis (3), parasitic helminthiasis infectious disease (1), meningioma, familial (1)

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 124.36 RPKM in Cells - Transformed fibroblasts
Total median expression: 1888.21 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.70290-0.423 Picture PostScript Text
3' UTR -90.80362-0.251 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025661 - Pept_asp_AS
IPR000169 - Pept_cys_AS
IPR025660 - Pept_his_AS
IPR013128 - Peptidase_C1A
IPR000668 - Peptidase_C1A_C
IPR013201 - Prot_inhib_I29

Pfam Domains:
PF08246 - Cathepsin propeptide inhibitor domain (I29)
PF00112 - Papain family cysteine protease

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

- X-ray MuPIT

- X-ray
To conserve bandwidth, only the images from the first 3 structures are shown.
1MHW - X-ray MuPIT 2NQD - X-ray MuPIT 2VHS - X-ray MuPIT
2XU1 - X-ray MuPIT 2XU3 - X-ray MuPIT 2XU4 - X-ray MuPIT
2XU5 - X-ray MuPIT 2YJ2 - X-ray MuPIT 2YJ8 - X-ray MuPIT
2YJ9 - X-ray MuPIT 2YJB - X-ray MuPIT 2YJC - X-ray MuPIT
3BC3 - X-ray MuPIT 3H89 - X-ray MuPIT 3H8B - X-ray MuPIT
3H8C - X-ray MuPIT 3HHA - X-ray MuPIT 3HWN - X-ray MuPIT
3IV2 - X-ray MuPIT 3K24 - X-ray MuPIT 3KSE - X-ray MuPIT
3OF8 - X-ray MuPIT 3OF9 - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P07711
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGI EnsemblEnsemblWormBase 
Protein Sequence  Protein SequenceProtein Sequence 
Alignment  AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001968 fibronectin binding
GO:0004197 cysteine-type endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0042393 histone binding
GO:0043394 proteoglycan binding
GO:0097655 serpin family protein binding

Biological Process:
GO:0002250 adaptive immune response
GO:0006508 proteolysis
GO:0019882 antigen processing and presentation
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0022617 extracellular matrix disassembly
GO:0030574 collagen catabolic process
GO:0045616 regulation of keratinocyte differentiation
GO:0051603 proteolysis involved in cellular protein catabolic process
GO:0071888 macrophage apoptotic process
GO:0097067 cellular response to thyroid hormone stimulus

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005764 lysosome
GO:0036021 endolysosome lumen
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  AK055599 - Homo sapiens cDNA FLJ31037 fis, clone HSYRA2000137, highly similar to CATHEPSIN L PRECURSOR (EC
FW340094 - Screening.
AK075100 - Homo sapiens cDNA FLJ90619 fis, clone PLACE1002374, highly similar to Cathepsin L precursor (EC
BX648848 - Homo sapiens mRNA; cDNA DKFZp686A03157 (from clone DKFZp686A03157).
AL832167 - Homo sapiens mRNA; cDNA DKFZp686K15158 (from clone DKFZp686K15158).
BX647102 - Homo sapiens mRNA; cDNA DKFZp686F10158 (from clone DKFZp686F10158).
BX647434 - Homo sapiens mRNA; cDNA DKFZp686B07158 (from clone DKFZp686B07158).
JD381998 - Sequence 363022 from Patent EP1572962.
BX649140 - Homo sapiens mRNA; cDNA DKFZp686L20157 (from clone DKFZp686L20157).
BX537395 - Homo sapiens mRNA; cDNA DKFZp686A18159 (from clone DKFZp686A18159).
X12451 - Human mRNA for pro-cathepsin L (major excreted protein MEP).
BX647101 - Homo sapiens mRNA; cDNA DKFZp686D14158 (from clone DKFZp686D14158).
BX647413 - Homo sapiens mRNA; cDNA DKFZp686B10158 (from clone DKFZp686B10158).
BX647435 - Homo sapiens mRNA; cDNA DKFZp686J08158 (from clone DKFZp686J08158).
BX648849 - Homo sapiens mRNA; cDNA DKFZp686A04157 (from clone DKFZp686A04157).
AF304301 - Homo sapiens cathepsin L splice variant mRNA, partial cds.
BC142983 - Homo sapiens cathepsin L1, mRNA (cDNA clone MGC:167089 IMAGE:8860422), complete cds.
AF217997 - Homo sapiens clone PP1959 unknown mRNA.
JD142183 - Sequence 123207 from Patent EP1572962.
JD162680 - Sequence 143704 from Patent EP1572962.
BC012612 - Homo sapiens cathepsin L1, mRNA (cDNA clone MGC:13635 IMAGE:4295635), complete cds.
JD204122 - Sequence 185146 from Patent EP1572962.
JD143363 - Sequence 124387 from Patent EP1572962.
JD223164 - Sequence 204188 from Patent EP1572962.
JD478393 - Sequence 459417 from Patent EP1572962.
AF467444 - Homo sapiens cathepsin L mRNA, partial cds; alternatively spliced.
AB463468 - Synthetic construct DNA, clone: pF1KB6402, Homo sapiens CTSL1 gene for cathepsin L1, without stop codon, in Flexi system.
DQ892930 - Synthetic construct clone IMAGE:100005560; FLH190943.01X; RZPDo839F0876D cathepsin L (CTSL) gene, encodes complete protein.
KJ896672 - Synthetic construct Homo sapiens clone ccsbBroadEn_06066 CTSL1 gene, encodes complete protein.
DQ896179 - Synthetic construct Homo sapiens clone IMAGE:100010639; FLH190939.01L; RZPDo839F0866D cathepsin L (CTSL) gene, encodes complete protein.
CR457053 - Homo sapiens full open reading frame cDNA clone RZPDo834B0418D for gene CTSL, cathepsin L; complete cds, incl. stopcodon.
X05256 - Human mRNA fragment for cathepsin L N-terminal/fragment.
Y18462 - Homo sapiens mRNA for cathepsin L, partial.
JD025028 - Sequence 6052 from Patent EP1572962.
JD034276 - Sequence 15300 from Patent EP1572962.
JD370447 - Sequence 351471 from Patent EP1572962.
JD283949 - Sequence 264973 from Patent EP1572962.
JD269059 - Sequence 250083 from Patent EP1572962.
JD104516 - Sequence 85540 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04142 - Lysosome
hsa04612 - Antigen processing and presentation

Reactome (by CSHL, EBI, and GO)

Protein P07711 (Reactome details) participates in the following event(s):

R-HSA-8938108 SERPINB13 binds cathepsin L
R-HSA-2130349 Generation of CLIP from lip10
R-HSA-2130706 MHC class II antigen processing
R-HSA-2130504 Cleavage of lip22 to lip10
R-HSA-1678981 TLR9 processing at neutral pH
R-HSA-1236948 Antigen processing by cathepsin S in endosoytic vesicle
R-HSA-2168923 Collagen type XVIII endostatin release
R-HSA-3814820 HSPG2 (perlecan) is cleaved by BMP1, TLL1, TLL2, Cathepsin L1
R-HSA-2213200 Release of endostatin-like peptides
R-HSA-1678920 TLR processing at low pH
R-HSA-8939242 RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-2132295 MHC class II antigen presentation
R-HSA-1679131 Trafficking and processing of endosomal TLR
R-HSA-1236977 Endosomal/Vacuolar pathway
R-HSA-1442490 Collagen degradation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-212436 Generic Transcription Pathway
R-HSA-1280218 Adaptive Immune System
R-HSA-168898 Toll-Like Receptors Cascades
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1474290 Collagen formation
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-168256 Immune System
R-HSA-168249 Innate Immune System
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: CATL1_HUMAN, CTSL1, NM_001912, P07711, Q6IAV1, Q96QJ0, uc004aph.1, uc004aph.2, uc004aph.3, uc004aph.4, uc004aph.5
UCSC ID: uc004aph.5
RefSeq Accession: NM_001912
Protein: P07711 (aka CATL1_HUMAN)
CCDS: CCDS6675.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.