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FLASH GENE
Symbol KAT6B contributors: mct - updated : 12-07-2010
HGNC name K(lysine) acetyltransferase 6B
HGNC id 17582
Corresponding disease
GPATS Genitopatellar syndrome
OHDO Ohdo syndrome (Say-Barber-Biesecker variant)
Location 10q22.2      Physical location : -
Synonym name
  • cDNA sequence,expressed in brain,81kDa,related to zinc finger protein MOZ
  • monocytic leukemia zinc finger protein
  • histone acetyltransferase
  • MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4
  • MYST histone acetyltransferase (monocytic leukemia) 4
  • Synonym symbol(s) qkf, MORF, MOZ2, KIAA0383, querkopf, FLJ90335, DKFZp313G1618, MYST4
    EC.number 2.3.1.48
    DNA
    TYPE functioning gene
    STRUCTURE 206.26 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 5990 - 1890 - 2001 11157802
    also called MORFA
    18 splicing 8550 - 2073 - 2001 11157802
    also called MORFB
    - - 5660 - 1781 - 1999 10497217
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Reproductivefemale systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    Skeletonappendicular skeletonlower limbspatella highly Homo sapiens
    Urinarykidney   highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Reproductivegranulosa cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text
  • cochlea
  • activated specifically in the developing central nervous system, facial structures, and limb buds
  • strongly expressed in the telencephalic vesicles, trigeminal ganglion, spinal cord, dorsal root ganglia, digestive tract, pancreas liver and ribs of developing embryos
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N- terminus containing an NEMM domain
  • two consecutive PHD domains
  • two nuclear localization signals (NLS)
  • HAT domain
  • C terminal SM (serine rich, MET rich domain), having potent transcriptional activation potential, and directly interact with the runt domain transcription factor RUNX2
  • HOMOLOGY
    intraspecies homolog to zinc finger protein MOZ
    Homologene
    FAMILY
  • MYST (SAS/MOZ) family of histone acetyltransferase
  • CATEGORY regulatory , DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,nucleosome
    text in oocytes and embryos the MYST4 protein was localized in both the cytoplasm and nucleus
    basic FUNCTION
  • positive and negative regulation of transcription
  • may contribute to important and specific acetylation events occurring during gametes and embryo development
  • MOZ-TIF2 acts as a dominant inhibitor of the transcriptional activities of CBP-dependent activators such as nuclear receptors and p53
  • may play an essential role for normal adult neurogenesis
  • KAT6A/KAT6B are histone acetyltransferase (HATs) important for different developmental programs and have been implicated in leukemogenic and other tumorigenic processess
  • MED12 and KAT6B are chromatin-modifying enzymes implicated in Ohdo syndrome and the development of uterine leiomyomata and other tumors strongly suggests that both genes are functionally related
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MYST3 and the related factor MYST4 form tetrameric complexes with ING5 (inhibitor of growth 5), MEAF6 (Esa1-associated factor 6 ortholog), and the bromodomain-PHD finger protein BRPF1, -2, or -3
  • histone acetylase, playing a critical role in the regulation of gene expression
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with RUNX2 (required for transcriptional activation by RUNX2)
  • interact with the RUNX family of transcription factors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OHDO , GPATS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fusion with CREBBP in acute myeloid leukemia with t(10;16) (q22;p13)
    tumoral fusion      
    in leiomyomata with chromosomal rearrangements involving 10q22 and 17q21 suggesting a role for this histone acetyltransferase and altered chromatin regulation in uterine mesenchymal neoplasia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Qkf-deficient mice have fewer neural stem cells and fewer migrating neuroblasts in the rostral migratory stream
  • mice carrying a hypomorphic mutation of Myst4 have short stature, an absence of fusion of the tibia and fibula, microcephaly with neurogenesis defects, early demise, and infertility