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CTSK cathepsin K [ Homo sapiens (human) ]

Gene ID: 1513, updated on 14-Nov-2024

Summary

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Official Symbol
CTSKprovided by HGNC
Official Full Name
cathepsin Kprovided by HGNC
Primary source
HGNC:HGNC:2536
See related
Ensembl:ENSG00000143387 MIM:601105; AllianceGenome:HGNC:2536
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
mouse all
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Genomic context

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See CTSK in Genome Data Viewer
Location:
1q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150796208..150808260, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149919861..149931947, complement)
RS_2024_09 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 melanoma risk locus-associated MPRA allelic enhancer 1:150703034 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150703366 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150707596 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150709723 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150721175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150721583-150722232 Neighboring gene cathepsin S Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150727539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150728676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1699 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 1:150738197 and 1:150738200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1305 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150748803 Neighboring gene short coiled-coil protein pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150753350-150754207 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:150754208-150755064 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150766964 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150774101 Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 3 Neighboring gene RNA, U6 small nuclear 1309, pseudogene Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150800090 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150800655 Neighboring gene aryl hydrocarbon receptor nuclear translocator Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150808889 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150818234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150822359-150823012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150823013-150823665 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150825511 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150826831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150846639-150847140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150847141-150847640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1306 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:150849134-150849407 Neighboring gene uncharacterized LOC107985204 Neighboring gene RPS27A pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Cathepsin K is present in invasive oral tongue squamous cell carcinoma in vivo and in vitro. Bitu CC, et al. PLoS One, 2013. PMID 23951042, Free PMC Article
  2. Regulation of collagenase activities of human cathepsins by glycosaminoglycans. Li Z, et al. J Biol Chem, 2004 Feb 13. PMID 14645229
  3. Cathepsin K expression in the spectrum of perivascular epithelioid cell (PEC) lesions of the kidney. Martignoni G, et al. Mod Pathol, 2012 Jan. PMID 21874011
  4. Cleavage site specificity of cathepsin K toward cartilage proteoglycans and protease complex formation. Hou WS, et al. Biol Chem, 2003 Jun. PMID 12887056
  5. Cathepsin K mRNA and protein expression in prostate cancer progression. Brubaker KD, et al. J Bone Miner Res, 2003 Feb. PMID 12568399

See all (205) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cathepsin K deficiency prevented stress-related thrombosis in a mouse FeCl3 model.
    Title: Cathepsin K deficiency prevented stress-related thrombosis in a mouse FeCl(3) model.
  2. mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
    Title: mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
  3. Lung macrophages utilize unique cathepsin K-dependent phagosomal machinery to degrade intracellular collagen.
    Title: Lung macrophages utilize unique cathepsin K-dependent phagosomal machinery to degrade intracellular collagen.
  4. Cathepsin K regulates the tumor growth and metastasis by IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in castration-resistant prostate cancer.
    Title: Cathepsin K regulates the tumor growth and metastasis by IL-17/CTSK/EMT axis and mediates M2 macrophage polarization in castration-resistant prostate cancer.
  5. Cathepsin K is Superior to HMB45 for the Diagnosis of Pulmonary Lymphangioleiomyomatosis.
    Title: Cathepsin K is Superior to HMB45 for the Diagnosis of Pulmonary Lymphangioleiomyomatosis.
  6. Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
    Title: Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
  7. Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
    Title: Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
  8. The CD200-CD200R Axis Promotes Squamous Cell Carcinoma Metastasis via Regulation of Cathepsin K.
    Title: The CD200-CD200R Axis Promotes Squamous Cell Carcinoma Metastasis via Regulation of Cathepsin K.
  9. Cathepsin K (Clone EPR19992) Demonstrates Uniformly Positive Immunoreactivity in Renal Oncocytoma, Chromophobe Renal Cell Carcinoma, and Distal Tubules.
    Title: Cathepsin K (Clone EPR19992) Demonstrates Uniformly Positive Immunoreactivity in Renal Oncocytoma, Chromophobe Renal Cell Carcinoma, and Distal Tubules.
  10. Cathepsin K Regulates Intraocular Pressure by Modulating Extracellular Matrix Remodeling and Actin-Bundling in the Trabecular Meshwork Outflow Pathway.
    Title: Cathepsin K Regulates Intraocular Pressure by Modulating Extracellular Matrix Remodeling and Actin-Bundling in the Trabecular Meshwork Outflow Pathway.
Submit: New GeneRIF Correction See all GeneRIFs (151)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pyknodysostosis
MedGen: C0238402 OMIM: 265800 GeneReviews: Pycnodysostosis
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EBI GWAS Catalog

Description
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
EBI GWAS Catalog
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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
  
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in bone resorption IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to zinc ion starvation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within collagen catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in collagen catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in extracellular matrix disassembly TAS
Traceable Author Statement
more info
  
involved_in intramembranous ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in mitophagy HMP PubMed 
involved_in mononuclear cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cartilage development IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis TAS
Traceable Author Statement
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in response to insulin IEA
Inferred from Electronic Annotation
more info
  
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
  
involved_in thyroid hormone generation IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
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
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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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_011848.2 RefSeqGene

    Range
    5000..17052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000396.4 → NP_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, Q6FHS6
    UniProtKB/TrEMBL
    Q6FHN2
    Related
    ENSP00000271651.3, ENST00000271651.8
    Conserved Domains (2) summary
    smart00848
    Location:26 → 85
    Inhibitor_I29; Cathepsin propeptide inhibitor domain (I29)
    pfam00112
    Location:115 → 327
    Peptidase_C1; Papain family cysteine protease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    149919861..149931947 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43235.1 GenPept UniProtKB/Swiss-Prot:P43235

Gene LinkOut

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

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