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CTSL cathepsin L [ Homo sapiens (human) ]

Gene ID: 1514, updated on 19-Jul-2014
Official Symbol
CTSLprovided by HGNC
Official Full Name
cathepsin Lprovided by HGNC
Primary source
HGNC:2537
Locus tag
RP11-65B23.1
See related
Ensembl:ENSG00000135047; HPRD:00293; MIM:116880; Vega:OTTHUMG00000020149
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MEP; CATL; CTSL1
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 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]
See CTSL in Epigenomics, MapViewer
Location:
9q21.33
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (87726059..87731469)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (90340974..90346384)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene death-associated protein kinase 1 Neighboring gene ribosomal protein S29 pseudogene 18 Neighboring gene putative proline-rich protein 21-like Neighboring gene eukaryotic translation initiation factor 3, subunit J pseudogene Neighboring gene cathepsin L family member 3, pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Cathepsin L cleaves HIV-1 gp120 at positions A3-L4 (HSV-1gD domain), K327-G328 (V3 domain), and G431-K432 and Y435-A436 (C4 domain), which is important for antigen processing and presentation PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing and presentation, organism-specific biosystem (from KEGG)
    Antigen processing and presentation, organism-specific biosystem
    Antigen processing and presentation
  • Antigen processing and presentation, conserved biosystem (from KEGG)
    Antigen processing and presentation, conserved biosystem
    Antigen processing and presentation
  • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
    Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
  • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
    Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Collagen degradation, organism-specific biosystem (from REACTOME)
    Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Endosomal/Vacuolar pathway, organism-specific biosystem (from REACTOME)
    Endosomal/Vacuolar pathway, organism-specific biosystemSome antigens are cross-presented through a vacuolar mechanism that involves generation of antigenic peptides and their loading on to MHC-I molecules within the endosomal compartment in a proteasome ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
  • Trafficking and processing of endosomal TLR, organism-specific biosystem (from REACTOME)
    Trafficking and processing of endosomal TLR, organism-specific biosystemMammalian TLR3, TLR7, TLR8, TLR9 are endosomal receptors that sense nucleic acids that have been released from endocytosed/phagocytosed bacteria, viruses or parasites. These TLRs have a ligand-recogn...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
collagen binding IDA
Inferred from Direct Assay
more info
 
cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
cysteine-type peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
fibronectin binding IPI
Inferred from Physical Interaction
more info
 
histone binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proteoglycan binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
adaptive immune response IEP
Inferred from Expression Pattern
more info
PubMed 
antigen processing and presentation TAS
Traceable Author Statement
more info
PubMed 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
cellular response to thyroid hormone stimulus IEP
Inferred from Expression Pattern
more info
 
collagen catabolic process IDA
Inferred from Direct Assay
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
macrophage apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
 
proteolysis involved in cellular protein catabolic process IDA
Inferred from Direct Assay
more info
 
toll-like receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endolysosome lumen TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
 
Preferred Names
cathepsin L1
Names
cathepsin L1
major excreted protein
NP_001244900.1
NP_001244901.1
NP_001244902.1
NP_001903.1
NP_666023.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001257971.1NP_001244900.1  cathepsin L1 isoform 1 preproprotein

    See proteins identical to NP_001244900.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    BM680778, BX647435, CB963086, DN993009
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    Conserved Domains (3) summary
    PTZ00203
    Location:6331
    Blast Score: 536
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:2987
    Blast Score: 175
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    cd02248
    Location:115331
    Blast Score: 890
    Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
  2. NM_001257972.1NP_001244901.1  cathepsin L1 isoform 1 preproprotein

    See proteins identical to NP_001244901.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    BM680778, BX647102, CB963086, DN993009
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    Conserved Domains (3) summary
    PTZ00203
    Location:6331
    Blast Score: 536
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:2987
    Blast Score: 175
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    cd02248
    Location:115331
    Blast Score: 890
    Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
  3. NM_001257973.1NP_001244902.1  cathepsin L1 isoform 2

    See proteins identical to NP_001244902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF217997, BM680778, CB963086, DN993009
    UniProtKB/TrEMBL
    Q9HBQ7
    Conserved Domains (1) summary
    cd02248
    Location:1149
    Blast Score: 510
    Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
  4. NM_001912.4NP_001903.1  cathepsin L1 isoform 1 preproprotein

    See proteins identical to NP_001903.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AL160279, AL832167, BM680778, DN993009
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    Conserved Domains (3) summary
    PTZ00203
    Location:6331
    Blast Score: 536
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:2987
    Blast Score: 175
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    cd02248
    Location:115331
    Blast Score: 890
    Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...
  5. NM_145918.2NP_666023.1  cathepsin L1 isoform 1 preproprotein

    See proteins identical to NP_666023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AL832167, AW270438, DN993009
    Consensus CDS
    CCDS6675.1
    UniProtKB/Swiss-Prot
    P07711
    Related
    ENSP00000365061, OTTHUMP00000021602, ENST00000340342, OTTHUMT00000052937
    Conserved Domains (3) summary
    PTZ00203
    Location:6331
    Blast Score: 536
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:2987
    Blast Score: 175
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    cd02248
    Location:115331
    Blast Score: 890
    Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    87726059..87731469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251716.1XP_005251773.1  

    See proteins identical to XP_005251773.1

    UniProtKB/Swiss-Prot
    P07711
    Conserved Domains (3) summary
    PTZ00203
    Location:6331
    Blast Score: 536
    PTZ00203; cathepsin L protease; Provisional
    smart00848
    Location:2987
    Blast Score: 175
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    cd02248
    Location:115331
    Blast Score: 890
    Peptidase_C1A; Peptidase C1A subfamily (MEROPS database nomenclature); composed of cysteine peptidases (CPs) similar to papain, including the mammalian CPs (cathepsins B, C, F, H, L, K, O, S, V, X and W). Papain is an endopeptidase with specific substrate preferences, ...

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    60165416..60170826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    90488740..90494151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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