Selected-GenAtlas references SOURCE GeneCards NCBI Gene Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KMT5B contributors: mct/npt - updated : 14-06-2018
HGNC name lysine methyltransferase 5B
HGNC id 24283
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