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    Ky kyphoscoliosis peptidase [ Mus musculus (house mouse) ]

    Gene ID: 16716, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Kyprovided by MGI
    Official Full Name
    kyphoscoliosis peptidaseprovided by MGI
    Primary source
    MGI:MGI:96709
    See related
    Ensembl:ENSMUSG00000035606 AllianceGenome:MGI:96709
    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
    ky; CD1; D9Mgc44e
    Summary
    Predicted to enable peptidase activity. Acts upstream of or within muscle organ development and neuromuscular junction development. Located in Z disc. Human ortholog(s) of this gene implicated in myofibrillar myopathy 7. Orthologous to human KY (kyphoscoliosis peptidase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in mammary gland adult (RPKM 5.4), heart adult (RPKM 3.6) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 F1; 9 54.54 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (102382954..102423443)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (102505755..102546247)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene Eph receptor B1 Neighboring gene predicted gene, 51736 Neighboring gene microRNA 7243 Neighboring gene STARR-seq mESC enhancer starr_25062 Neighboring gene STARR-seq mESC enhancer starr_25064 Neighboring gene STARR-seq mESC enhancer starr_25065 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:102442073-102442356 Neighboring gene STARR-positive B cell enhancer mm9_chr9:102444048-102444348 Neighboring gene predicted gene 29387 Neighboring gene WD repeat domain 85 pseudogene Neighboring gene karyopherin alpha 7 (importin alpha 8) pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. The neuromuscular basis of hereditary kyphoscoliosis in the mouse. Bridges LR, et al. Muscle Nerve, 1992 Feb. PMID 1372391
    2. RNA sequencing identifies upregulated kyphoscoliosis peptidase and phosphatidic acid signaling pathways in muscle hypertrophy generated by transgenic expression of myostatin propeptide. Miao Y, et al. Int J Mol Sci, 2015 Apr 9. PMID 25860951, Free PMC Article
    3. Genetic kyphoscoliosis in mice. Dickinson AG, et al. Lancet, 1973 May 26. PMID 4123573
    4. Mechanical power and myosin composition of soleus and extensor digitorum longus muscles of ky mice. Maréchal G, et al. Am J Physiol, 1995 Feb. PMID 7864091
    5. Isoforms of myosin in growing muscles of ky (kyphoscoliotic) mice. Maréchal G, et al. Eur J Biochem, 1996 Nov 1. PMID 8944783

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. expression of the co-chaperone BAG3 and other chaperone-assisted selective autophagy factors was analyzed in the cellular, zebrafish and ky/ky mouse models.
      Title: Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy.
    2. kyphoscoliosis peptidase (Ky), which plays a vital role in muscle growth, was also up-regulated in the transgenic mice.
      Title: RNA sequencing identifies upregulated kyphoscoliosis peptidase and phosphatidic acid signaling pathways in muscle hypertrophy generated by transgenic expression of myostatin propeptide.
    3. The Ky gene was downregulated in CAPN3KO muscles suggesting that Ky protease may play a complementary role in regulating muscle cytoskeleton homeostasis in response to changes in muscle activity.
      Title: C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
    4. KY, IGFN1 and FLNC are part of a Z-band associated protein complex likely to provide structural support to the skeletal muscle sarcomere.
      Title: Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1.
    5. KY is an intrinsic part of the protein networks underlying the molecular mechanism of several limb-girdle muscular dystrophies.
      Title: Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.
    6. Changes in expression of MLP, MARP2 and Xin have been related to the onset of dystrophic and adaptive changes that operate in ky/ky muscles
      Title: Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.
    7. The Ky protein has a putative key function in muscle development and has homologues in invertebrates, fungi and a cyanobacterium.
      Title: Cloning and developmental expression analysis of ltd-1, the Caenorhabditis elegans homologue of the mouse kyphoscoliosis (ky) gene.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Spontaneous (1)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in muscle organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neuromuscular junction development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kyphoscoliosis peptidase

    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_024291.4 → NP_077253.3  kyphoscoliosis peptidase

      See identical proteins and their annotated locations for NP_077253.3

      Status: VALIDATED

      Source sequence(s)
      AL450317
      Consensus CDS
      CCDS23445.1
      UniProtKB/Swiss-Prot
      Q8C8H8, Q9EPK9
      UniProtKB/TrEMBL
      F8VQF8
      Related
      ENSMUSP00000036032.5, ENSMUST00000039390.6
      Conserved Domains (1) summary
      smart00460
      Location:217 → 285
      TGc; Transglutaminase/protease-like homologues

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      102382954..102423443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511647.2 → XP_006511710.1  kyphoscoliosis peptidase isoform X1

      Conserved Domains (1) summary
      COG5279
      Location:182 → 364
      CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C8H8.1 GenPept UniProtKB/Swiss-Prot:Q8C8H8

    Gene LinkOut

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

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