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Ctsk cathepsin K [ Mus musculus (house mouse) ]

Gene ID: 13038, updated on 21-Apr-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)

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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.

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)