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    Ctsl cathepsin L [ Mus musculus (house mouse) ]

    Gene ID: 13039, updated on 16-Apr-2024

    Summary

    Official Symbol
    Ctslprovided by MGI
    Official Full Name
    cathepsin Lprovided by MGI
    Primary source
    MGI:MGI:88564
    See related
    Ensembl:ENSMUSG00000021477 AllianceGenome:MGI:88564
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    fs; MEP; nkt; CatL; Ctsl1; 1190035F06Rik
    Summary
    This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the activation peptide and the cathepsin L1 heavy and light chains. The mature enzyme appears to be important in embryonic development through its processing of histone H3 and may play a role in disease progression in a model of kidney disease. Homozygous knockout mice for this gene exhibit hair loss, skin thickening, bone and heart defects, and enhanced susceptibility to bacterial infection. A pseudogene of this gene has been identified in the genome. [provided by RefSeq, Aug 2015]
    Expression
    Broad expression in placenta adult (RPKM 194.5), liver E18 (RPKM 75.5) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    13 B3; 13 33.26 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (64509704..64518586, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (64361890..64370772, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_34827 Neighboring gene peroxiredoxin like 2C Neighboring gene STARR-positive B cell enhancer ABC_E8894 Neighboring gene STARR-positive B cell enhancer ABC_E1879 Neighboring gene predicted gene, 31128 Neighboring gene STARR-positive B cell enhancer ABC_E3084 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:64509468-64509621 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:64511983-64512222 Neighboring gene RIKEN cDNA 1700015C15 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:64533677-64533786 Neighboring gene cyclin dependent kinase 20 Neighboring gene predicted gene, 31218 Neighboring gene BTB (POZ) domain containing 3 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (1) 
    • Targeted (7)  1 citation
    • Radiation induced (1)  1 citation
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (5) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables aminopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables collagen binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cysteine-type carboxypeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type endopeptidase activator activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables cysteine-type peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables fibronectin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables kininogen binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptide binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables proteoglycan binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables serpin family protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in CD4-positive, alpha-beta T cell lineage commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in antigen processing and presentation of peptide antigen IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within catagen IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in collagen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within decidualization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in elastin catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in epithelial tube branching involved in lung morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hair follicle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of keratinocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteolysis involved in protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis involved in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thyroid hormone generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with apical part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in external side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microvillus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in multivesicular body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perikaryon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with secretory granule ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    procathepsin L
    Names
    Cat L
    cathepsin L1
    major excreted protein
    p39 cysteine proteinase
    NP_034114.1
    XP_006517143.1

    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_001428550.1NP_001415479.1  procathepsin L isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    2. NM_001428551.1NP_001415480.1  procathepsin L isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    3. NM_001428552.1NP_001415481.1  procathepsin L isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    4. NM_001428553.1NP_001415482.1  procathepsin L isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    5. NM_001428554.1NP_001415483.1  procathepsin L isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    6. NM_001428555.1NP_001415484.1  procathepsin L isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    7. NM_001428557.1NP_001415486.1  procathepsin L isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    8. NM_001428567.1NP_001415496.1  procathepsin L isoform 9

      Status: VALIDATED

      Source sequence(s)
      CT030159
    9. NM_001428568.1NP_001415497.1  procathepsin L isoform 9

      Status: VALIDATED

      Source sequence(s)
      CT030159
    10. NM_001428569.1NP_001415498.1  procathepsin L isoform 10 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    11. NM_001428570.1NP_001415499.1  procathepsin L isoform 11 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    12. NM_001428571.1NP_001415500.1  procathepsin L isoform 12 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    13. NM_001428572.1NP_001415501.1  procathepsin L isoform 13 precursor

      Status: VALIDATED

      Source sequence(s)
      CT030159
    14. NM_009984.5NP_034114.1  procathepsin L isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_034114.1

      Status: VALIDATED

      Source sequence(s)
      CT030159
      Consensus CDS
      CCDS26600.1
      UniProtKB/Swiss-Prot
      P06797, Q91UZ0
      UniProtKB/TrEMBL
      Q3TNC8, Q3TT75, Q3TVJ1, Q3U5U9, Q3UHZ4, Q543M3, Q9D0C0
      Related
      ENSMUSP00000021933.8, ENSMUST00000021933.8
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114331
      Peptidase_C1; Papain family cysteine protease

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      64509704..64518586 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006517080.2XP_006517143.1  procathepsin L isoform X1

      See identical proteins and their annotated locations for XP_006517143.1

      UniProtKB/Swiss-Prot
      P06797, Q91UZ0
      UniProtKB/TrEMBL
      Q3TNC8, Q3TT75, Q3TVJ1, Q3U5U9, Q3UHZ4, Q543M3, Q9D0C0
      Conserved Domains (2) summary
      smart00848
      Location:2987
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:114331
      Peptidase_C1; Papain family cysteine protease