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    Kmt5a lysine methyltransferase 5A [ Mus musculus (house mouse) ]

    Gene ID: 67956, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Kmt5aprovided by MGI
    Official Full Name
    lysine methyltransferase 5Aprovided by MGI
    Primary source
    MGI:MGI:1915206
    See related
    Ensembl:ENSMUSG00000049327 AllianceGenome:MGI:1915206
    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
    Setd8; PR-SET7; PR/SET07; 2410195B05Rik
    Summary
    Predicted to enable histone H4K20 methyltransferase activity and transcription corepressor activity. Predicted to be involved in negative regulation of nucleobase-containing compound metabolic process; peptidyl-lysine monomethylation; and regulation of DNA damage response, signal transduction by p53 class mediator. Predicted to be located in chromatin; cytosol; and nucleoplasm. Predicted to be active in nucleus and polytene chromosome. Is expressed in several structures, including extraembryonic component. Orthologous to human KMT5A (lysine methyltransferase 5A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 32.5), heart adult (RPKM 26.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kmt5a in Genome Data Viewer
    Location:
    5 F; 5 63.59 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (124577980..124600371)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (124439930..124462311)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene strawberry notch 1 Neighboring gene STARR-seq mESC enhancer starr_14338 Neighboring gene STARR-positive B cell enhancer ABC_E851 Neighboring gene Rab interacting lysosomal protein-like 2 Neighboring gene STARR-positive B cell enhancer ABC_E8082 Neighboring gene STARR-positive B cell enhancer ABC_E11302 Neighboring gene STARR-positive B cell enhancer ABC_E2178 Neighboring gene STARR-positive B cell enhancer ABC_E6382 Neighboring gene peptidylprolyl isomerase A pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10352 Neighboring gene small nuclear ribonucleoprotein 35 (U11/U12) Neighboring gene predicted gene, 52789

    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
    • 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. Kmt5a Controls Hepatic Metabolic Pathways by Facilitating RNA Pol II Release from Promoter-Proximal Regions. Nikolaou KC, et al. Cell Rep, 2017 Jul 25. PMID 28746875, Free PMC Article
    2. Epigenetic Determinants of Erythropoiesis: Role of the Histone Methyltransferase SetD8 in Promoting Erythroid Cell Maturation and Survival. DeVilbiss AW, et al. Mol Cell Biol, 2015 Jun. PMID 25855754, Free PMC Article
    3. Catalytic function of the PR-Set7 histone H4 lysine 20 monomethyltransferase is essential for mitotic entry and genomic stability. Houston SI, et al. J Biol Chem, 2008 Jul 11. PMID 18480059, Free PMC Article
    4. The histone methyltransferase Setd8 alters the chromatin landscape and regulates the expression of key transcription factors during erythroid differentiation. Myers JA, et al. Epigenetics Chromatin, 2020 Mar 16. PMID 32178723, Free PMC Article
    5. SET8 participates in lipopolysaccharide-mediated BV2 cell inflammation via modulation of TICAM-2 expression. Zhao Y, et al. Can J Physiol Pharmacol, 2020 Nov. PMID 32176860

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Trophoblast PR-SET7 dysfunction induces viral mimicry response and necroptosis associated with recurrent miscarriage.
      Title: Trophoblast PR-SET7 dysfunction induces viral mimicry response and necroptosis associated with recurrent miscarriage.
    2. SET8 participates in lipopolysaccharide-mediated BV2 cell inflammation via modulation of TICAM-2 expression.
      Title: SET8 participates in lipopolysaccharide-mediated BV2 cell inflammation via modulation of TICAM-2 expression.
    3. Meiotic gatekeeper STRA8 regulates cell cycle by interacting with SETD8 during spermatogenesis.
      Title: Meiotic gatekeeper STRA8 regulates cell cycle by interacting with SETD8 during spermatogenesis.
    4. The histone methyltransferase Setd8 alters the chromatin landscape and regulates the expression of key transcription factors during erythroid differentiation.
      Title: The histone methyltransferase Setd8 alters the chromatin landscape and regulates the expression of key transcription factors during erythroid differentiation.
    5. KMT5a was identified as a target gene that was down-regulated in both mRNA and protein level when miR-127-3p mimics were introduced. miR-127-3p regulates the proliferation of myocytes through KMT5a.
      Title: mir-127-3p inhibits the proliferation of myocytes by targeting KMT5a.
    6. Authors demonstrated that PR-Set7, an epigenetic regulator for H4K20me1 modification, was extensively expressed in the postnatal uteri, and its conditional deletion resulted in a complete lack of endometrial glands and infertility in mice.
      Title: PR-Set7 deficiency limits uterine epithelial population growth hampering postnatal gland formation in mice.
    7. PR-Set7 is a direct target of Cul4A for degradation and involved in the formation of lung tumors in the conditional Cul4A transgenic mouse model.
      Title: PR-Set7 is Degraded in a Conditional Cul4A Transgenic Mouse Model of Lung Cancer.
    8. These results suggest that Setd8 is an important regulator of erythroid maturation that works in part through repression of Gata2 expression.
      Title: Histone methyltransferase Setd8 represses Gata2 expression and regulates erythroid maturation.
    9. These results establish SetD8 as a determinant of erythroid cell maturation and provide a framework for understanding how a broadly expressed histone-modifying enzyme mediates cell-type-specific GATA factor function.
      Title: Epigenetic Determinants of Erythropoiesis: Role of the Histone Methyltransferase SetD8 in Promoting Erythroid Cell Maturation and Survival.
    10. all of the H3K36-specific methyltransferases, including ASH1L, HYPB, NSD1, and NSD2 were inhibited by ubH2A, whereas the other histone methyltransferases, including PRC2, G9a, and Pr-Set7 were not affected by ubH2A.
      Title: Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    • MGC117832

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables histone H4K20 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H4K20 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone H4K20 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein-lysine N-methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-lysine N-methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in peptidyl-lysine monomethylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peptidyl-lysine monomethylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA damage response, signal transduction by p53 class mediator IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA damage response, signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in polytene chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    N-lysine methyltransferase KMT5A
    Names
    H4-K20-HMTase KMT5A
    H4-K20-HMTase SETD8
    N-lysine methyltransferase SETD8
    PR/SET domain-containing protein 07
    SET domain containing (lysine methyltransferase) 8
    SET domain-containing protein 8
    histone-lysine N-methyltransferase KMT5A
    histone-lysine N-methyltransferase SETD8
    lysine-specific methylase 5A
    NP_001297652.1
    NP_001297654.1
    NP_001297656.1
    NP_001392317.1
    NP_001392319.1
    NP_084517.2
    XP_036021341.1

    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.

    mRNA and Protein(s)

    1. NM_001310723.2 → NP_001297652.1  N-lysine methyltransferase KMT5A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC127339
      Consensus CDS
      CCDS80410.1
      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9
      UniProtKB/TrEMBL
      D3YXI6
      Related
      ENSMUSP00000098275.3, ENSMUST00000100709.7
      Conserved Domains (1) summary
      smart00317
      Location:236 → 353
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

    2. NM_001310725.2 → NP_001297654.1  N-lysine methyltransferase KMT5A isoform 3

      See identical proteins and their annotated locations for NP_001297654.1

      Status: VALIDATED

      Source sequence(s)
      AC127339
      Consensus CDS
      CCDS80411.1
      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9
      UniProtKB/TrEMBL
      A0A0G2JFK5
      Related
      ENSMUSP00000143207.2, ENSMUST00000198451.2
      Conserved Domains (2) summary
      PLN02543
      Location:70 → 164
      PLN02543; pfkB-type carbohydrate kinase family protein
      cd10528
      Location:143 → 282
      SET_SETD8; SET domain found in SET domain-containing protein 8 (SETD8) and similar proteins

    3. NM_001310727.2 → NP_001297656.1  N-lysine methyltransferase KMT5A isoform 3

      See identical proteins and their annotated locations for NP_001297656.1

      Status: VALIDATED

      Source sequence(s)
      AC127339
      Consensus CDS
      CCDS80411.1
      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9
      UniProtKB/TrEMBL
      A0A0G2JFK5
      Conserved Domains (2) summary
      PLN02543
      Location:70 → 164
      PLN02543; pfkB-type carbohydrate kinase family protein
      cd10528
      Location:143 → 282
      SET_SETD8; SET domain found in SET domain-containing protein 8 (SETD8) and similar proteins

    4. NM_001405388.1 → NP_001392317.1  N-lysine methyltransferase KMT5A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC127339
      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9
      UniProtKB/TrEMBL
      A0A0G2JFK5

    5. NM_001405390.1 → NP_001392319.1  N-lysine methyltransferase KMT5A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC127339
      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9

    6. NM_030241.4 → NP_084517.2  N-lysine methyltransferase KMT5A isoform 1.

      Status: VALIDATED

      Source sequence(s)
      AC127339
      Consensus CDS
      CCDS19675.1
      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9
      UniProtKB/TrEMBL
      E9QNB8
      Related
      ENSMUSP00000052953.5, ENSMUST00000059580.11
      Conserved Domains (1) summary
      smart00317
      Location:222 → 339
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      124577980..124600371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165448.1 → XP_036021341.1  N-lysine methyltransferase KMT5A isoform X1

      UniProtKB/Swiss-Prot
      Q2YDW7, Q8C0J9
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2YDW7.1 GenPept UniProtKB/Swiss-Prot:Q2YDW7

    Gene LinkOut

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

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