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    Ctsk cathepsin K [ Mus musculus (house mouse) ]

    Gene ID: 13038, updated on 10-Mar-2024

    Summary

    Official Symbol
    Ctskprovided by MGI
    Official Full Name
    cathepsin Kprovided by MGI
    Primary source
    MGI:MGI:107823
    See related
    Ensembl:ENSMUSG00000028111 AllianceGenome:MGI:107823
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    catK; Ms10q; MMS10-Q
    Summary
    This gene encodes a member of the cathepsin family of cysteine proteases that is highly expressed in osteoclasts and is involved in the degradation of collagen and other matrix proteins in bone. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. Mice lacking the encoded protein exhibit phenotypic features of pycnodysostosis such as increased bone density and bone deformity, which become progressively more pronounced with age. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in bladder adult (RPKM 27.4), limb E14.5 (RPKM 13.7) and 12 other tissues See more
    Orthologs
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    Genomic context

    Location:
    3 F2.1; 3 40.74 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (95406521..95416698)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (95499210..95509387)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E654 Neighboring gene SET domain, bifurcated 1 pseudogene Neighboring gene aryl hydrocarbon receptor nuclear translocator Neighboring gene STARR-seq mESC enhancer starr_08385 Neighboring gene CapStarr-seq enhancer MGSCv37_chr3:95315769-95315952 Neighboring gene STARR-positive B cell enhancer ABC_E7927 Neighboring gene predicted gene, 40096 Neighboring gene high mobility group box 1, pseudogene 5 Neighboring gene cathepsin S

    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)
    • Targeted (11)  1 citation
    • Endonuclease-mediated (7) 

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables collagen binding ISO
    Inferred from Sequence Orthology
    more info
     
    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
    PubMed 
    enables fibronectin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables proteoglycan binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within bone resorption IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone resorption ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within collagen catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within collagen catabolic process ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in collagen catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of cartilage development 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 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 proteolysis involved in protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in thyroid hormone generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thyroid hormone generation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cathepsin K
    Names
    Cat K
    NP_031828.2

    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_007802.4NP_031828.2  cathepsin K preproprotein

      See identical proteins and their annotated locations for NP_031828.2

      Status: REVIEWED

      Source sequence(s)
      AC092203, AK132648, D18958
      Consensus CDS
      CCDS17615.1
      UniProtKB/Swiss-Prot
      O88718, P55097
      UniProtKB/TrEMBL
      Q545T0
      Related
      ENSMUSP00000015664.4, ENSMUST00000015664.5
      Conserved Domains (2) summary
      smart00848
      Location:2685
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      cd02248
      Location:116327
      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: 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_000069.7 Reference GRCm39 C57BL/6J

      Range
      95406521..95416698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)