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    CTSK cathepsin K [ Homo sapiens (human) ]

    Gene ID: 1513, updated on 8-Jul-2021

    Summary

    Official Symbol
    CTSKprovided by HGNC
    Official Full Name
    cathepsin Kprovided by HGNC
    Primary source
    HGNC:HGNC:2536
    See related
    Ensembl:ENSG00000143387 MIM:601105
    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
    CTSO; PKND; PYCD; CTS02; CTSO1; CTSO2
    Summary
    The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
    Expression
    Broad expression in gall bladder (RPKM 190.4), urinary bladder (RPKM 132.0) and 15 other tissues See more
    Orthologs
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    Genomic context

    See CTSK in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (150796208..150808260, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150768684..150780736, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cathepsin S Neighboring gene short coiled-coil protein pseudogene Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 3 Neighboring gene RNA, U6 small nuclear 1309, pseudogene Neighboring gene aryl hydrocarbon receptor nuclear translocator Neighboring gene RPS27A pseudogene 6

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
    GeneReviews: Not available
    Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
    GeneReviews: Not available
    Pyknodysostosis
    MedGen: C0238402 OMIM: 265800 GeneReviews: Pycnodysostosis
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Co-stimulation with pro-atherogenic shear stress and HIV-1 Tat upregulates cathepsin K and V activity in human aortic endothelial cells PubMed
    tat HIV-1 Tat and RANKL/M-CSF enhance osteoclast differentiation and activity by increasing osteoclast differentiation markers, such as cathepsin K and calcitonin receptor PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC23107

    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 peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fibronectin binding IPI
    Inferred from Physical Interaction
    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 serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endolysosome lumen TAS
    Traceable Author Statement
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cathepsin K
    Names
    cathepsin O
    cathepsin O1
    cathepsin O2
    cathepsin X
    NP_000387.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_011848.1 RefSeqGene

      Range
      4896..17129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000396.4NP_000387.1  cathepsin K preproprotein

      See identical proteins and their annotated locations for NP_000387.1

      Status: REVIEWED

      Source sequence(s)
      AL355860, AL356292
      Consensus CDS
      CCDS969.1
      UniProtKB/Swiss-Prot
      P43235
      Related
      ENSP00000271651.3, ENST00000271651.8
      Conserved Domains (2) summary
      smart00848
      Location:2685
      Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
      pfam00112
      Location:115327
      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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      150796208..150808260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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