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    CTSL1 cathepsin L1 [ Homo sapiens ]

    Gene ID: 1514, updated on 19-May-2012
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    Summary

    Official Symbol
    CTSL1provided by HGNC
    Official Full Name
    cathepsin L1provided 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; CTSL; FLJ31037
    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]
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    Genomic context

    Location :
    9q21.33
    Sequence :
    Chromosome: 9; NC_000009.11 (90340974..90346384)
    See CTSL1 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene death-associated protein kinase 1 Neighboring gene ribosomal protein S29 pseudogene 18 Neighboring gene DAPK1 intronic transcript 1 (non-protein coding) Neighboring gene eukaryotic translation initiation factor 3, subunit J pseudogene Neighboring gene cathepsin L family member 3

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Transient expression of progesterone receptor and cathepsin-l in human granulosa cells during the periovulatory period. García V, et al. Fertil Steril, 2012 Mar. PMID 22281037.
    2. Cathepsins B and L activate Ebola but not Marburg virus glycoproteins for efficient entry into cell lines and macrophages independent of TMPRSS2 expression. Gnirss K, et al. Virology, 2012 Mar 1. PMID 22222211.
    3. Cathepsin cleavage potentiates the Ebola virus glycoprotein to undergo a subsequent fusion-relevant conformational change. Brecher M, et al. J Virol, 2012 Jan. PMID 22031933.
    4. Proteomic identification of protease cleavage sites characterizes prime and non-prime specificity of cysteine cathepsins B, L, and S. Biniossek ML, et al. J Proteome Res, 2011 Dec 2. PMID 21967108.
    5. Clinical value of combined detection of serum matrix metalloproteinase-9, heparanase, and cathepsin for determining ovarian cancer invasion and metastasis. Zhang W, et al. Anticancer Res, 2011 Oct. PMID 21965756.

    See all (143) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Report transient expression of progesterone receptor and cathepsin-l in human granulosa cells during the periovulatory period.
      Title: Transient expression of progesterone receptor and cathepsin-l in human granulosa cells during the periovulatory period.
    2. Recently discovered biological roles of cathepsins L and B indicate their significance in human health and disease.
      Title: Cysteine Cathepsins in the secretory vesicle produce active peptides: Cathepsin L generates peptide neurotransmitters and cathepsin B produces beta-amyloid of Alzheimer's disease.
    3. high-resolution structures reveal that the backbone C=O group of Gly61 in most cathepsin L co-crystal structures maintains water solvation while engaging in halogen bonding
      Title: Halogen bonding at the active sites of human cathepsin L and MEK1 kinase: efficient interactions in different environments.
    4. Cathepsin L has a strong preference for aromatic and, to a slightly lesser extent, aliphatic residues.
      Title: Proteomic identification of protease cleavage sites characterizes prime and non-prime specificity of cysteine cathepsins B, L, and S.
    5. Cathepsins B and L activate Ebola but not Marburg virus glycoproteins for efficient entry into cell lines and macrophages independent of TMPRSS2 expression.
      Title: Cathepsins B and L activate Ebola but not Marburg virus glycoproteins for efficient entry into cell lines and macrophages independent of TMPRSS2 expression.
    6. Cathepsin L cleavage potentiates the Ebola virus GP to undergo a fusion-relevant conformational change.
      Title: Cathepsin cleavage potentiates the Ebola virus glycoprotein to undergo a subsequent fusion-relevant conformational change.
    7. this is the first report demonstrating the phase-specific expression of CTSL in chronic myeloid leukaemia
      Title: Epigenetic regulation of cathepsin L expression in chronic myeloid leukaemia.
    8. CTSL might increase the invasion and metastasis ability of ovarian cancer cells in vitro.
      Title: [Relationship between cathepsin L and invasion and metastasis of ovarian carcinoma cells].
    9. cathepsin L is highly expressed in GISTs compared to its expression in other cancerous lesions; this identifies cathepsin-L as a new diagnostic marker for GISTs.
      Title: Cathepsin L is highly expressed in gastrointestinal stromal tumors.
    10. Cysteine cathepsins S and L modulate anti-angiogenic activities of human endostatin.
      Title: Cysteine cathepsins S and L modulate anti-angiogenic activities of human endostatin.
    Submit: New GeneRIF Correction See all (86)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P07711 P15289 ARSA    HPRD  PubMed  
    P07711 P09564 CD7    HPRD  PubMed  
    P07711 P04233 CD74    HPRD  PubMed  
    P07711 P39060 COL18A1    HPRD  PubMed  
    P07711 P01034 CST3    HPRD  PubMed  
    P07711 O76096 CST7    HPRD  PubMed  
    P07711 P01040 CSTA    HPRD  PubMed  
    P07711 P04080 CSTB    HPRD  PubMed  
    P07711 P53634 CTSC    HPRD  PubMed  
    P07711 P07711 CTSL1    HPRD  PubMed  
    P07711 P39880 CUX1    HPRD  PubMed  
    P07711 P01275 GCG    HPRD  PubMed  
    P07711 P17936 IGFBP3    HPRD  PubMed  
    P07711 P10145 IL8    HPRD  PubMed  
    P07711 P01042 KNG1    HPRD  PubMed  
    P07711 P00749 PLAU    HPRD  PubMed  
    P07711 P19793 RXRA    HPRD  PubMed  
    P07711 Q9UIV8 SERPINB13    HPRD  PubMed  
    P07711 P29508 SERPINB3    HPRD  PubMed  
    P07711 P03973 SLPI    HPRD  PubMed  
    P07711 P01266 TG    HPRD  PubMed  
    BioGRID:107894 BioGRID:113647 BAG6    BioGRID  PubMed Two-hybrid 
    BioGRID:107894 BioGRID:107857 CSTA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107894 BioGRID:114265 EED    BioGRID  PubMed Two-hybrid 
    BioGRID:107894 BioGRID:108937 GEM    BioGRID  PubMed Two-hybrid 
    BioGRID:107894 BioGRID:112168 RXRA    BioGRID  PubMed Biochemical Activity 
    BioGRID:107894 BioGRID:112223 SERPINB3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107894 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • 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
    • 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...
    • 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...
    • 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 Receptor Cascades, organism-specific biosystem (from REACTOME)
      Toll Receptor 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...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cysteine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    		  
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    cellular response to thyroid hormone stimulus IEP
    Inferred from Expression Pattern
    more info
    		  
    macrophage apoptosis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    lysosome NAS
    Non-traceable Author Statement
    more info
    		  
    nucleus TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    cathepsin L1
    Names
    cathepsin L1
    cathepsin L
    major excreted protein
    NP_001903.1
    NP_666023.1
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    NCBI Reference Sequences (RefSeq)

    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_001257971.1 → NP_001244900.1  cathepsin L1 isoform 1 preproprotein

      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
      Conserved Domains (3) summary
      cd02248
      Location:115 – 331
      Blast Score: 778
      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, ...
      PTZ00203
      Location:6 – 316
      Blast Score: 488
      PTZ00203; cathepsin L protease; Provisional
      cl07031
      Location:29 – 87
      Blast Score: 176
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    2. NM_001257972.1 → NP_001244901.1  cathepsin L1 isoform 1 preproprotein

      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
      Conserved Domains (3) summary
      cd02248
      Location:115 – 331
      Blast Score: 778
      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, ...
      PTZ00203
      Location:6 – 316
      Blast Score: 488
      PTZ00203; cathepsin L protease; Provisional
      cl07031
      Location:29 – 87
      Blast Score: 176
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    3. NM_001257973.1 → NP_001244902.1  cathepsin L1 isoform 2

      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
      Conserved Domains (1) summary
      cd02248
      Location:1 – 149
      Blast Score: 441
      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_001912.4 → NP_001903.1  cathepsin L1 isoform 1 preproprotein

      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
      Related
      ENSP00000345344, OTTHUMP00000021601, ENST00000343150, OTTHUMT00000052936
      Conserved Domains (3) summary
      cd02248
      Location:115 – 331
      Blast Score: 778
      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, ...
      PTZ00203
      Location:6 – 316
      Blast Score: 488
      PTZ00203; cathepsin L protease; Provisional
      cl07031
      Location:29 – 87
      Blast Score: 176
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    5. NM_145918.2 → NP_666023.1  cathepsin L1 isoform 1 preproprotein

      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
      cd02248
      Location:115 – 331
      Blast Score: 778
      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, ...
      PTZ00203
      Location:6 – 316
      Blast Score: 488
      PTZ00203; cathepsin L protease; Provisional
      cl07031
      Location:29 – 87
      Blast Score: 176
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p5 Primary Assembly

      Range
      90340974..90346384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

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

    Nucleotide Protein
    Heading Accession and Version
    genomic AL160279.21 CAI16307.1
      CAI16308.1
    genomic CH471089.1 EAW62731.1
      EAW62732.1
      EAW62733.1
      EAW62734.1
      EAW62735.1
      EAW62736.1
    genomic GN344049.1 CAY55960.1
    genomic GN344051.1 CAY55961.1
    genomic M20496.1 AAA66974.1
    mRNA AF217997.1 AAG17239.1
    mRNA AF304301.1 AAM89516.1
    mRNA AF467444.1 AAQ05021.1
    mRNA AK055599.1 None
    mRNA AK075100.1 BAG52066.1
    mRNA AL832167.1 None
    mRNA AW270438.1 None
    mRNA BC012612.1 AAH12612.1
    mRNA BC142983.1 AAI42984.1
    mRNA BI824449.1 None
    mRNA BI829385.1 None
    mRNA BM680778.1 None
    mRNA BX537395.1 CAD97637.1
    mRNA BX647101.1 None
    mRNA BX647102.1 None
    mRNA BX647413.1 None
    mRNA BX647434.1 None
    mRNA BX647435.1 None
    mRNA BX648848.1 None
    mRNA BX648849.1 None
    mRNA BX649140.1 None
    mRNA CB963086.1 None
    mRNA CR457053.1 CAG33334.1
    mRNA DN993009.1 None
    mRNA X05256.1 CAA28877.1
    mRNA X12451.1 CAA30981.1
    mRNA Y18462.1 CAA77180.1
    other-genetic DQ892930.2 ABM83856.1
    other-genetic DQ896179.2 ABM87178.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07711.2 GenPept UniProtKB/Swiss-Prot:P07711
    Q5K630 GenPept UniProtKB/TrEMBL:Q5K630
    Q5T8F0 GenPept UniProtKB/TrEMBL:Q5T8F0
    Q6LAF7 GenPept UniProtKB/TrEMBL:Q6LAF7
    Q8NG13 GenPept UniProtKB/TrEMBL:Q8NG13
    Q9HBQ7 GenPept UniProtKB/TrEMBL:Q9HBQ7
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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