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FLASH GENE
Symbol SMYD1 contributors: mct/pgu - updated : 10-12-2012
HGNC name SET and MYND domain containing 1
HGNC id 20986
Location 2p11.2      Physical location : 88.367.381 - 88.412.900
Synonym name
  • CD8 beta opposite
  • zinc finger, MYND domain containing 18
  • Synonym symbol(s) BOP, ZMYND18, ZMYND22, KMT3D
    DNA
    TYPE functioning gene
    STRUCTURE 45.52 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • a MEF2-response element in the promoter
  • binding sites for SRF and myogenin in the promoter
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC388971 2 LOC388971 LOC285069 2p11.1 hypothetical protein LOC285069 LOC115281 2p11.2 similar to Ig kappa variable region MGC4677 2p11.2 hypothetical protein MGC4677 LOC388972 2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) LOC388973 2 similar to plasminogen-like LOC388974 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 LOC388975 2 similar to WW domain binding protein 1 LOC344165 2p11.2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) LOC51315 2p11.2 hypothetical protein LOC51315 SMYD1 2p11.1 SET and MYND domain containing 1 FABP1 2p12-p11.2 fatty acid binding protein 1, liver FLJ10916 2p11.2 hypothetical protein FLJ10916 MRPL45P1 2p11.2 hypothetical protein FLJ10916 LOC344167 2p11.2 similar to FoxI1c protein FLJ25369 2p11.2 hypothetical protein FLJ25369 EIF2AK3 2p12 eukaryotic translation initiation factor 2-alpha kinase 3 RPIA 2p11.1 ribose 5-phosphate isomerase A (ribose 5-phosphate epimerase) LOC388976 2 similar to protein that is immuno-reactive with anti-PTH polyclonal antibodies IGKC 2p12 immunoglobulin kappa constant IGKJ5 2p11.2 immunoglobulin kappa joining 5 IGKJ4 2p11.2 immunoglobulin kappa joining 4 IGKJ3 2p11.2 immunoglobulin kappa joining 3 IGKJ2 2p11.2 immunoglobulin kappa joining 2 IGKJ1 2p11.2 immunoglobulin kappa joining 1 IGKV4-1 2p11.2 immunoglobulin kappa variable 4-1 IGKV5-2 2p11.2 immunoglobulin kappa variable 5-2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 4364 56.5 490 - 2002 11923873
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved MYND zinc finger involved in recruitement of HDAC and transcriptional repression, and that may primarily serve as a protein interaction module and cooperate SMYD1 with NACA to regulate cardiomyocyte growth and maturation
  • a "split" SET domain,
  • a novel C-terminal domain (CTD) that distinguishes SMYD1 from other SET domain containing methyltransferases
  • HOMOLOGY
    interspecies homolog to murine Bop
    Homologene
    FAMILY
  • SMYD family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in cardiomyocyte differentiation and chamber-specific development
  • acting as a histone deacetylase-dependent transcriptional repressor
  • involved in cardiovascular development and transcriptional regulation
  • may be playing a critical role in myofibril organization during myofiber maturation
  • regulator of right ventricular heart development
  • essential downstream effector gene of MEF2C in the developing heart
  • key regulator of myogenic differentiation, acting as a downstream target of muscle regulatory factors SRF and myogenin
  • cardiac- and muscle-specific histone methyltransferase that methylates histone H3 at lysine 4 and regulates gene transcription in early heart development
  • muscle-restricted histone methyltransferase, essential for cardiogenesis and functions with a network of cardiac regulatory proteins
  • essential role for the SMYD1-myosin interaction in cardiac and fast-twitch skeletal muscle thick filament assembly
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcriptional repressor
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HDGF
  • direct transcriptional target of MEF2C in the developing heart (SMYD1 expression in the developing heart depends on the direct binding of MEF2C to a MEF2-response element in the Bop promoter)
  • NACA is the major binding partner for SMYD1 in the developing heart
  • cell & other
    REGULATION
    repressed by HDGF, through interaction with a transcriptional corepressor C-terminal binding protein CTBP1, and CTBP2
    Other appears to be regulated by an autoinhibition mechanism
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS