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FLASH GENE
Symbol SETD1A contributors: npt/mct - updated : 31-05-2018
HGNC name SET domain containing 1A
HGNC id 29010
Location 16p11.2      Physical location : 30.968.614 - 30.995.981
Synonym name
  • cDNA sequence, expressed in brain, >100kDa
  • histone-lysine N-methyltransferase, H3 lysine-4 specific SET1
  • Set1/Ash2 histone methyltransferase complex subunit SET1
  • lysine N-methyltransferase 2F
    • Synonym symbol(s) KIAA0339, Set1, KMT2F, SET1A
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 27.37 kb     19 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 6447 185.9 1707 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   moderately
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Nervousnerve   moderately
    Reproductivefemale systembreastmammary gland highly
     female systemovary  moderately
    Respiratoryrespiratory tractlarynx  moderately
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a RRM (RNA recognition motif) domain, that interacts with WDR82
  • a highly conserved SET domain
  • a post-SET domains
    • conjugated PhosphoP
    mono polymer complex
    HOMOLOGY
    interspecies homolog to murine Setd1a (91.1 pc)
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • specifically methylating Lys-4 of histone H3, when part of the Set1/Ash2 histone methyltransferase (HMT) complex, but not if the neighboring Lys-9 residue is already methylated
  • acting as chromatin regulator
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the SETD1A complex, including CCNY, RBBP5, ASH2L, WDR5, and WDR82, associating with SETD1B (Lee 2007)
    • INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • interacting with HCFC1
  • interacting with CXXC1 (interacts with MLL1, MLL2 as well as SETD1A and plays critical roles in regulations of MLL target genes) (Ansari 2008)
  • WDR82 is a regulatory component of the SETD1A and SETD1B histone H3-lysine 4 methyltransferase complexes and is implicated in the tethering of SETD1 complexes to transcriptional start sites of active genes
  • SETD1A, SETD1B and EP300 act cooperatively, through direct interactions and coupled histone modifications, to facilitate the function of TP53
  • WDR82 targets the SETD1A H3K4 methyltransferases and the nuclear protein phosphatase 1 (PP1) complexes to the initiating Pol II
  • histone H3K4 methyltransferase SETD1A is differentially recruited between macrophages (MACs) and osteoclasts (OCs) in a TET2-dependent manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS