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FLASH GENE
Symbol NSD1 contributors: mct - updated : 28-06-2018
HGNC name nuclear receptor binding SET domain protein 1
HGNC id 14234
Corresponding disease
STO Sotos syndrome
Location 5q35.2      Physical location : 176.560.079 - 176.727.213
Synonym name
  • androgen receptor-associated coregulator 267
  • H4-K20-HMTase
  • lysine N-methyltransferase 3B
  • NR-binding SET domain-containing protein
  • H3-K36-HMTase
  • histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
  • Synonym symbol(s) ARA267, FLJ22263, FLJ44628, KMT3B, DKFZp666C163, FLJ10684
    EC.number 2.1.1.43
    DNA
    TYPE functioning gene
    STRUCTURE 166.38 kb     23 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 12213 - 2427 - 2007 17565729
    short isoform
    23 - 12998 - 2696 - 2007 17565729
    long isoform
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Endocrinepancreas   moderately
    Lymphoid/Immunethymus    
    Nervousbrain   moderately
     spinal cord   highly
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    Muscularstriatumskeletal  
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three C5HCH and four plant homeodomains (PHDs), which are implicated in chromatin regulation and are zinc finger like motifs characterized by cysteine and histidine residues
  • two PWWP (proline-2 tryptophan-proline)domains (one in N-terminus)
  • two nuclear receptor-interaction domains (NID)
  • ten putative nuclear localization signals
  • a single FSXXLXXL motif facilitates its interactions with the NR2E/F subfamily
  • several motifs, lysine methyltransferase SET domain and four zinc-binding PHD fingers, in the C-terminal half that are undoubtedly critical for its proposed functions in signaling and chromatin regulation
  • HOMOLOGY
    interspecies homolog to murine Nsd1
    Homologene
    FAMILY
  • histone-lysine methyltransferase family
  • nuclear receptor binding SET domain (NSD) protein family
  • CATEGORY regulatory , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • SET-domain histone lysine methyltransferase, maybe acting as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator
  • may be involved in imprinting of the chromosome 11p15 region
  • may be functioning as a bifunctional transcriptional regulator activating or repressing transcription in response to ligand binding
  • acting as a histone methyltransferase
  • involved in the regulation of gene expression through stimulating the transition of RNA polymerase II from an initiation to fully elongation-competent state
  • SET-domain histone methyltransferase that primarily di-methylates nucleosomal histone H3 lysine 36 (H3K36), through an autoregulatory mechanism
  • autoregulatory mechanism of NSD1, providing insight into the molecular mechanism of the nucleosomal substrate selectivity of this disease-related H3K36 methyltransferase
  • critical in maintaining the chromatin integrity
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ZNF496
  • CFDP1, Sec23 homolog A (SEC23A), and nuclear receptor binding SET domain protein 1 (NSD1), contain consensus GTF2I binding sites in their proximal promoters
  • binds near various promoter elements and regulates multiple genes that appear to have a concerted role in various processes, such as cell growth/cancer, keratin biology, and bone morphogenesis
  • regulates RNA polymerase II recruitment to BMP4, and failure to do so leads to reduced gene expression and abrogated levels of H3K36Me and C-terminal domain phosphorylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) STO , WVSS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with NUP98 in t(5;11)(q35;p15.5) in acute myeloid leukemia
    constitutional germinal mutation      
    in Beckwith-Wiedemann syndrome
    tumoral     --low  
    by hypermethylation was a common event in neuroblastomas and gliomas (NSD1 hypermethylation was a predictor of poor outcome in high-risk neuroblastoma
    constitutional     --over  
    activates NF-kappaB and reverses the inhibitory effect of KDM2A, whereas reduced expression of NSD1 decreases NF-kappaB activation
    tumoral   amplification    
    in multiple myeloma, lung cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrain 
    therapeutic implications because NSD1 DNA methylation-associated silencing is associated with poor outcome and there are now clinically approved DNA demethylating agents that may be able to restore NSD1 functionality with potential tumor growth inhibitory
    ANIMAL & CELL MODELS