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    CTSL cathepsin L [ Homo sapiens (human) ]

    Gene ID: 1514, updated on 5-Jul-2015
    Official Symbol
    CTSLprovided by HGNC
    Official Full Name
    cathepsin Lprovided by HGNC
    Primary source
    HGNC:HGNC:2537
    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]
    Orthologs
    See CTSL in Epigenomics, MapViewer
    Location:
    9q21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (87725519..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 uncharacterized LOC105376127 Neighboring gene death-associated protein kinase 1 Neighboring gene ribosomal protein S29 pseudogene 18 Neighboring gene uncharacterized LOC105376128 Neighboring gene eukaryotic translation initiation factor 3, subunit J 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 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

    Clone Names

    • FLJ31037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    proteoglycan binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serpin family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
    PubMed 
    collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    proteolysis involved in cellular protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endolysosome lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    cathepsin L1
    Names
    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 identical proteins and their annotated locations for 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/TrEMBL
      A0A024R276
      UniProtKB/Swiss-Prot
      P07711
      Conserved Domains (3) summary
      PTZ00203
      Location:6331
      PTZ00203; cathepsin L protease; Provisional
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:115331
      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 identical proteins and their annotated locations for 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/TrEMBL
      A0A024R276
      UniProtKB/Swiss-Prot
      P07711
      Conserved Domains (3) summary
      PTZ00203
      Location:6331
      PTZ00203; cathepsin L protease; Provisional
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:115331
      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 identical proteins and their annotated locations for 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
      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 identical proteins and their annotated locations for 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/TrEMBL
      A0A024R276
      UniProtKB/Swiss-Prot
      P07711
      Conserved Domains (3) summary
      PTZ00203
      Location:6331
      PTZ00203; cathepsin L protease; Provisional
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:115331
      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 identical proteins and their annotated locations for 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/TrEMBL
      A0A024R276
      UniProtKB/Swiss-Prot
      P07711
      Related
      ENSP00000365061, OTTHUMP00000021602, ENST00000340342, OTTHUMT00000052937
      Conserved Domains (3) summary
      PTZ00203
      Location:6331
      PTZ00203; cathepsin L protease; Provisional
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:115331
      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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

      Range
      87725519..87731469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518263.1XP_011516565.1  

      Related
      ENSP00000345344, OTTHUMP00000021601, ENST00000343150, OTTHUMT00000052936
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:115264
      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. XM_005251716.2XP_005251773.1  

      See identical proteins and their annotated locations for XP_005251773.1

      UniProtKB/TrEMBL
      A0A024R276
      UniProtKB/Swiss-Prot
      P07711
      Conserved Domains (3) summary
      PTZ00203
      Location:6331
      PTZ00203; cathepsin L protease; Provisional
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:115331
      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 CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

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