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FLASH GENE
Symbol KMT5B contributors: mct/npt - updated : 14-06-2018
HGNC name lysine methyltransferase 5B
HGNC id 24283
Corresponding disease
MRD51 mental retardation, autosomal dominant 5
Location 11q13.2      Physical location : -
Synonym name
  • histone H4 lysine 20 trimethyltransferase
  • suppressor of variegation 4-20 homolog 1 (Drosophila)
  • Su(var)4-20 homolog 1
  • Synonym symbol(s) CGI-85, CGI85, MGC703, MGC21161, Suv4-20h1, C630029K18Rik, MGC118906, MGC118909, SUV420H1
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 59.04 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2711 44 393 - 2015 26586479
  • having an alternate 3' exon
  • utilizing an upstream stop codon
  • 11 - 5802 - 645 - 2015 26586479
    9 - 2758 - 370 - 2015 26586479
    11 - 5767 99 885 - 2015 26586479
    12 - 5835 - 713 - 2015 26586479
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Lymphoid/Immunelymph node   moderately
    Nervousbrain   moderately
    Reproductivefemale systemuteruscervix moderately
     female systemplacenta  moderately
     female systembreastmammary gland predominantly
     male systemprostate  moderately
     male systemtestis  moderately
    Respiratorylung   moderately
     respiratory tractlarynx  highly
    Skin/Tegumentskin   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SET domain
  • HOMOLOGY
    interspecies ortholog to murine Suv420h1
    Homologene
    FAMILY
  • histone-lysine methyltransferase family
  • Suvar4-20 subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in constitutive heterochromatin maintenance, actively participates in hormone-dependent transcriptional regulation affecting GR (glucocorticoid receptor) target gene expression in a promoter- and cell type-specific manner (Chinenov 2008)
  • KMT5B, KMT5C differ substantially in their localization and activity
  • its activity is required for the fidelity of chromosome distribution during meiosis in the mammalian oocyte
  • may be required for normal chromosome behaviour and that it is crucial for proper meiotic progression in mammalian oocytes
  • novel role of FRG1 as epigenetic regulator of muscle differentiation, indicating that SUV420H1 has a gene-specific function in myogenesis
  • KMT5B, KMT5C are two highly homologous enzymes that methylate lysine 20 of histone H4 (H4K20), a mark that has been implicated in transcriptional regulation
  • KMT5B is a H4K20 dimethyltransferase, that controls Skeletal muscle stem cells (MuSCs) quiescence by promoting formation of facultative heterochromatin (fHC)
  • actively regulates MuSC quiescence via fHC formation and control of the MYOD1 locus, thereby guarding and preserving the stem cell pool over a lifetime
  • KMT5B-mediated H4K20 tri-methylation is a critical determinant in the selection of active replication initiation sites in heterochromatin regions of mammalian genomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GRIP1 (is a GRIP1-associated “secondary” cofactor for GR (glucocorticoid receptor), and active modulator of hormone-dependent gene expression) (Chinenov 2008)
  • when over-expressed, FRG1 binds and interferes with the activity of the histone methyltransferase KMT5B
  • FRG1/KMT5B target EID3 as a novel myogenic inhibitor that contributes to the muscle differentiation defects
  • overexpression of KMT5B may result in activation of the ERK signaling pathway through enhancement of ERK phosphorylation and transcription, thereby providing new insights in the regulation of the ERK cascade in human cancer
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD51
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS