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    Kmt5b lysine methyltransferase 5B [ Mus musculus (house mouse) ]

    Gene ID: 225888, updated on 9-Dec-2024

    Summary

    Official Symbol
    Kmt5bprovided by MGI
    Official Full Name
    lysine methyltransferase 5Bprovided by MGI
    Primary source
    MGI:MGI:2444557
    See related
    Ensembl:ENSMUSG00000045098 AllianceGenome:MGI:2444557
    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
    Suv420h1; Suv4-20h1; C630029K18Rik
    Summary
    Enables S-adenosyl-L-methionine binding activity and histone H4K20 methyltransferase activity. Involved in positive regulation of isotype switching. Located in condensed chromosome, centromeric region. Is expressed in several structures, including genitourinary system; heart; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 51. Orthologous to human KMT5B (lysine methyltransferase 5B). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 7.3), CNS E14 (RPKM 7.0) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Kmt5b in Genome Data Viewer
    Location:
    19 A; 19 3.5 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (3816436..3868303)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (3767362..3818303)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1810055G02 gene Neighboring gene STARR-positive B cell enhancer ABC_E5671 Neighboring gene predicted gene, 36787 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene STARR-seq mESC enhancer starr_45327 Neighboring gene STARR-seq mESC enhancer starr_45328 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:3767926-3768113 Neighboring gene STARR-positive B cell enhancer ABC_E5672 Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor pseudogene Neighboring gene STARR-seq mESC enhancer starr_45331 Neighboring gene microRNA 12192

    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)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC18702

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables S-adenosyl-L-methionine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone H4K20 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H4K20 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 H4K20me methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA repair ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of double-strand break repair via nonhomologous end joining ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of isotype switching IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in condensed chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    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
     

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase KMT5B
    Names
    [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B
    [histone H4]-lysine20 N-methyltransferase KMT5B
    histone-lysine N-methyltransferase SUV420H1
    lysine-specific methyltransferase 5B
    su(var)4-20 homolog 1
    suppressor of variegation 4-20 homolog 1
    NP_001161356.1
    NP_001161357.1
    NP_001161358.1
    NP_001161359.1
    NP_001161360.1
    NP_001161361.1
    NP_001366607.1
    NP_001366608.1
    NP_001366609.1
    NP_659120.3
    XP_006531790.1
    XP_006531791.1
    XP_011246926.1
    XP_017173633.1
    XP_030106737.1
    XP_036017420.1
    XP_036017421.1
    XP_036017422.1
    XP_036017423.1
    XP_036017424.1
    XP_036017425.1
    XP_036017426.1
    XP_036017427.1
    XP_036017428.1
    XP_036017429.1
    XP_036017430.1
    XP_036017431.1
    XP_036017432.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001167884.1NP_001161356.1  histone-lysine N-methyltransferase KMT5B isoform d

      See identical proteins and their annotated locations for NP_001161356.1

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK083227, AK087267
      Consensus CDS
      CCDS50345.1
      UniProtKB/Swiss-Prot
      Q3U8K7
      Related
      ENSMUSP00000109601.3, ENSMUST00000113968.9
      Conserved Domains (1) summary
      smart00317
      Location:204315
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    2. NM_001167885.1NP_001161357.1  histone-lysine N-methyltransferase KMT5B isoform a

      See identical proteins and their annotated locations for NP_001161357.1

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK083227, AK152179, AY555192
      Consensus CDS
      CCDS50343.1
      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Related
      ENSMUSP00000109606.2, ENSMUST00000113973.8
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    3. NM_001167886.1NP_001161358.1  histone-lysine N-methyltransferase KMT5B isoform b

      See identical proteins and their annotated locations for NP_001161358.1

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK083227, AY555192
      Consensus CDS
      CCDS29399.1
      UniProtKB/Swiss-Prot
      Q3U8K7
      Related
      ENSMUSP00000109610.3, ENSMUST00000113977.9
      Conserved Domains (1) summary
      cd19184
      Location:170313
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    4. NM_001167887.1NP_001161359.1  histone-lysine N-methyltransferase KMT5B isoform a

      See identical proteins and their annotated locations for NP_001161359.1

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK083227, AY555192
      Consensus CDS
      CCDS50343.1
      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Related
      ENSMUSP00000109605.3, ENSMUST00000113972.9
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    5. NM_001167888.1NP_001161360.1  histone-lysine N-methyltransferase KMT5B isoform d

      See identical proteins and their annotated locations for NP_001161360.1

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK083227, AK087267, AK152179
      Consensus CDS
      CCDS50345.1
      UniProtKB/Swiss-Prot
      Q3U8K7
      Related
      ENSMUSP00000158061.2, ENSMUST00000237440.2
      Conserved Domains (1) summary
      smart00317
      Location:204315
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    6. NM_001167889.2NP_001161361.1  histone-lysine N-methyltransferase KMT5B isoform c

      See identical proteins and their annotated locations for NP_001161361.1

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK082660, AK083227
      Consensus CDS
      CCDS50344.1
      UniProtKB/TrEMBL
      H3BLE5
      Related
      ENSMUSP00000060162.7, ENSMUST00000052699.13
      Conserved Domains (1) summary
      smart00317
      Location:204315
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    7. NM_001379678.1NP_001366607.1  histone-lysine N-methyltransferase KMT5B isoform a

      Status: VALIDATED

      Source sequence(s)
      AC132452
      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    8. NM_001379679.1NP_001366608.1  histone-lysine N-methyltransferase KMT5B isoform b

      Status: VALIDATED

      Source sequence(s)
      AC132452
      Related
      ENSMUSP00000135563.2, ENSMUST00000176262.8
      Conserved Domains (1) summary
      cd19184
      Location:170313
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    9. NM_001379680.1NP_001366609.1  histone-lysine N-methyltransferase KMT5B isoform e

      Status: VALIDATED

      Source sequence(s)
      AC132452
      Conserved Domains (1) summary
      cl40432
      Location:193276
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
    10. NM_144871.4NP_659120.3  histone-lysine N-methyltransferase KMT5B isoform b

      See identical proteins and their annotated locations for NP_659120.3

      Status: VALIDATED

      Source sequence(s)
      AC132452, AK083227, AY555192
      Consensus CDS
      CCDS29399.1
      UniProtKB/Swiss-Prot
      Q3U8K7
      Related
      ENSMUSP00000109607.5, ENSMUST00000113974.11
      Conserved Domains (1) summary
      cd19184
      Location:170313
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      3816436..3868303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531727.5XP_006531790.1  histone-lysine N-methyltransferase KMT5B isoform X1

      See identical proteins and their annotated locations for XP_006531790.1

      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    2. XM_036161533.1XP_036017426.1  histone-lysine N-methyltransferase KMT5B isoform X7

    3. XM_017318144.3XP_017173633.1  histone-lysine N-methyltransferase KMT5B isoform X3

      Conserved Domains (1) summary
      cd19184
      Location:151294
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    4. XM_036161527.1XP_036017420.1  histone-lysine N-methyltransferase KMT5B isoform X1

      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    5. XM_036161528.1XP_036017421.1  histone-lysine N-methyltransferase KMT5B isoform X1

      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    6. XM_036161534.1XP_036017427.1  histone-lysine N-methyltransferase KMT5B isoform X7

    7. XM_036161539.1XP_036017432.1  histone-lysine N-methyltransferase KMT5B isoform X10

      Conserved Domains (1) summary
      cl40432
      Location:193275
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
    8. XM_036161538.1XP_036017431.1  histone-lysine N-methyltransferase KMT5B isoform X9

      Conserved Domains (1) summary
      cl40432
      Location:193326
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
    9. XM_036161531.1XP_036017424.1  histone-lysine N-methyltransferase KMT5B isoform X6

      Conserved Domains (1) summary
      cd19184
      Location:170313
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    10. XM_036161530.1XP_036017423.1  histone-lysine N-methyltransferase KMT5B isoform X5

      Conserved Domains (1) summary
      cd19184
      Location:128271
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    11. XM_011248624.3XP_011246926.1  histone-lysine N-methyltransferase KMT5B isoform X2

      See identical proteins and their annotated locations for XP_011246926.1

      UniProtKB/Swiss-Prot
      Q3U8K7
      Conserved Domains (1) summary
      cd19184
      Location:170313
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    12. XM_036161529.1XP_036017422.1  histone-lysine N-methyltransferase KMT5B isoform X4

      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    13. XM_036161535.1XP_036017428.1  histone-lysine N-methyltransferase KMT5B isoform X7

    14. XM_036161532.1XP_036017425.1  histone-lysine N-methyltransferase KMT5B isoform X7

    15. XM_036161537.1XP_036017430.1  histone-lysine N-methyltransferase KMT5B isoform X7

    16. XM_030250877.2XP_030106737.1  histone-lysine N-methyltransferase KMT5B isoform X8

    17. XM_006531728.5XP_006531791.1  histone-lysine N-methyltransferase KMT5B isoform X1

      See identical proteins and their annotated locations for XP_006531791.1

      UniProtKB/Swiss-Prot
      Q3U8K7, Q3UTP6, Q6DI74, Q6Q784, Q8BU67, Q8BUN0, Q8BUT7, Q8BW73, Q8BZ24, Q91X81
      Conserved Domains (1) summary
      cd19184
      Location:193336
      SET_KMT5B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 5B (KMT5B) and similar proteins
    18. XM_036161536.1XP_036017429.1  histone-lysine N-methyltransferase KMT5B isoform X7