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    CTSL cathepsin L [ Homo sapiens (human) ]

    Gene ID: 1514, updated on 6-Sep-2021

    Summary

    Official Symbol
    CTSLprovided by HGNC
    Official Full Name
    cathepsin Lprovided by HGNC
    Primary source
    HGNC:HGNC:2537
    See related
    Ensembl:ENSG00000135047 MIM:116880
    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. Additionally, this protein cleaves the S1 subunit of the SARS-CoV-2 spike protein, which is necessary for entry of the virus into the cell. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Broad expression in placenta (RPKM 162.6), kidney (RPKM 60.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CTSL in Genome Data Viewer
    Location:
    9q21.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (87726119..87731469)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (90341034..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 DAPK1 intronic transcript 1 Neighboring gene CTSL promoter region Neighboring gene CTSL 3' regulatory element Neighboring gene eukaryotic translation initiation factor 3 subunit J pseudogene Neighboring gene cathepsin L family member 3, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ31037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cysteine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fibronectin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proteoglycan binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serpin family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CD4-positive, alpha-beta T cell lineage commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adaptive immune response IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in antigen processing and presentation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
    Traceable Author Statement
    more info
     
    involved_in antigen processing and presentation of peptide antigen ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to thyroid hormone stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in elastin catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in enkephalin processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fusion of virus membrane with host endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fusion of virus membrane with host plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in macrophage apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein autoprocessing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis involved in cellular protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in proteolysis involved in cellular protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor-mediated endocytosis of virus by host cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral entry into host cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in zymogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromaffin granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    located_in endolysosome lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in multivesicular body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    procathepsin L
    Names
    cathepsin L1
    major excreted protein
    NP_001244900.1
    NP_001244901.1
    NP_001244902.1
    NP_001369686.1
    NP_001369687.1
    NP_001369695.1
    NP_001369696.1
    NP_001369697.1
    NP_001903.1
    NP_666023.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001257971.2NP_001244900.1  procathepsin L 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
      Consensus CDS
      CCDS6675.1
      UniProtKB/Swiss-Prot
      P07711
      UniProtKB/TrEMBL
      A0A024R276
      Related
      ENSP00000504313.1, ENST00000679149.1
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114332
      Peptidase_C1; Papain family cysteine protease
    2. NM_001257972.2NP_001244901.1  procathepsin L 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
      Consensus CDS
      CCDS6675.1
      UniProtKB/Swiss-Prot
      P07711
      UniProtKB/TrEMBL
      A0A024R276
      Related
      ENSP00000503439.1, ENST00000676531.1
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114332
      Peptidase_C1; Papain family cysteine protease
    3. NM_001257973.2NP_001244902.1  procathepsin L 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
      pfam00112
      Location:1150
      Peptidase_C1; Papain family cysteine protease
    4. NM_001382757.1NP_001369686.1  procathepsin L isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AL160279
      Related
      ENSP00000503298.1, ENST00000677821.1
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114332
      Peptidase_C1; Papain family cysteine protease
    5. NM_001382758.1NP_001369687.1  procathepsin L isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL160279
      Related
      ENSP00000504473.1, ENST00000677019.1
      Conserved Domains (2) summary
      pfam00112
      Location:59277
      Peptidase_C1; Papain family cysteine protease
      pfam08246
      Location:133
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    6. NM_001382766.1NP_001369695.1  procathepsin L isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL160279
      Related
      ENSP00000340470.6, ENST00000342020.6
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114260
      Peptidase_C1; Papain family cysteine protease
    7. NM_001382767.1NP_001369696.1  procathepsin L isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL160279
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114260
      Peptidase_C1; Papain family cysteine protease
    8. NM_001382768.1NP_001369697.1  procathepsin L isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL160279
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114260
      Peptidase_C1; Papain family cysteine protease
    9. NM_001912.5NP_001903.1  procathepsin L 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/Swiss-Prot
      P07711
      UniProtKB/TrEMBL
      A0A024R276
      Related
      ENSP00000345344.5, ENST00000343150.10
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114332
      Peptidase_C1; Papain family cysteine protease
    10. NM_145918.3NP_666023.1  procathepsin L 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
      Consensus CDS
      CCDS6675.1
      UniProtKB/Swiss-Prot
      P07711
      UniProtKB/TrEMBL
      A0A024R276
      Related
      ENSP00000502968.1, ENST00000679157.1
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114332
      Peptidase_C1; Papain family cysteine protease

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      87726119..87731469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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