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

Gene ID: 67956, updated on 2-Nov-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, Nov 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 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/TrEMBL
    A0A0G2JFK5

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

    Status: VALIDATED

    Source sequence(s)
    AC127339

  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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