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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
    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
    Physical map
    KIAA1191 5q35.3 KIAA1191 protein MGC2198 5q35.3 hypothetical protein MGC2198 FLJ39249 5q35.3 ADP-ribosylation factor-like membrane-associated protein HSPC111 5q35.3 hypothetical protein HSPC111 CLTB 4q2-q3 clathrin, light polypeptide (Lcb) ETEA 5q35.3 expressed in T-cells and eosinophils in atopic dermatitis RNF44 5q35.3 ring finger protein 44 PC-LKC 5q35.3 protocadherin LKC KIAA1893 5q35.3 G protein-regulated inducer of neurite outgrowth 1 SNCB 5q35 synuclein, beta LOC253314 5q35.3 similar to eukaryotic translation initiation factor eIF4E-1 MGC14859 5q35.3 hypothetical protein MGC14859 LOC389348 5 LOC389348 KIAA1976 5q35.3 netrin receptor Unc5h1 HK3 5q35.2-q35.3 hexokinase 3 (white cell) RAP80 5q35.3 receptor associated protein 80 JAZ 5q35.3 double-stranded RNA-binding zinc finger protein JAZ FGFR4 5q35.3 fibroblast growth factor receptor 4 NSD1 5q35.1-q35.3 nuclear receptor binding SET domain protein 1 RAB24 5q35.3 RAB24, member RAS oncogene family PX19 5q35.3 px19-like protein MXD3 5q35.3 MAX dimerization protein 3 LMAN2 5q35 lectin, mannose-binding 2 RGS14 5q35.3 regulator of G-protein signalling 14 SLC34A1 5q35.1 solute carrier family 34 (sodium phosphate), member 1 LOC345456 5q35.3 similar to profilin 3 F12 5q35.1 coagulation factor XII (Hageman factor) GPRK6 5q35 G protein-coupled receptor kinase 6 MGC10772 5q35.3 hypothetical protein MGC10772 DBN1 5q35.3 drebrin 1 FLJ22570 5q35.3 Dok-like protein DDX41 5q35.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 HSGP25L2G 5q35.3 gp25L2 protein LOC391854 5 similar to Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) ENIGMA 5q34-q35 similar to Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) FLJ10404 5q35.3 hypothetical protein FLJ10404 B4GALT7 5q35.2-q35.3 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) LOC202181 5q35.3 hypothetical protein LOC202181 NY-REN-7 5q35.3 NY-REN-7 antigen
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 12213 - 2427 - 2007 17565729
    short isoform
    23 - 12998 - 2696 - 2007 17565729
    long isoform
    Type widely
    constitutive of
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Endocrinepancreas   moderately
    Nervousbrain   moderately
     spinal cord   highly
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Urinarykidney   moderately
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines
    at STAGE
    physiological period fetal
    Text brain
  • 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
    interspecies homolog to murine Nsd1
  • histone-lysine methyltransferase family
  • nuclear receptor binding SET domain (NSD) protein family
  • CATEGORY regulatory , receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    small molecule
  • 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
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
    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