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Description for Protein NSD1

nuclear receptor binding SET domain protein 1
7 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
Summary:
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
  • PHD: PHD zinc finger
  • PWWP: domain with conserved PWWP motif
  • SET: SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.1.1.43
    KEGG - Orthology:
    K11424
    KEGG - Pathway(s):
    hsa00310
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Nuclear receptor binding SET domain protein1; FLJ22263; Androgen receptor-associated coregulator 267; SET domain protein 1; Trithorax domain protein; Nuclear receptor binding Su-var; Nuclear receptor binding SET domain protein 1 isoform a; Nuclear receptor binding SET domain protein 1 isoform b
    Approved Symbol:
    NSD1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 38
    Human (de-) phosphorylation sites: 38; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Beckwith-Wiedemann syndrome(Pd);
  • Sotos syndrome(Pd);
  • Sotos syndrome, sporadic(Pd);
  • Weaver syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09455 Entrez Gene ID: 64324 OMIM ID: 606681 Swissprot Accession: Q96L73; Q96MN8;