NSD1, nuclear receptor binding SET domain protein 1

NSD1, nuclear receptor binding SET domain protein 1

• 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. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]

• Gene Synonyms (histone-lysine N-methyltransferase, H3 lysine-36 specific, H3-K36-HMTase, H4-K20-HMTase, NR-binding SET domain-containing protein, androgen receptor coactivator 267 kDa protein, androgen receptor-associated coregulator 267, androgen receptor-associated protein of 267 kDa, histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific, lysine N-methyltransferase 3B, nuclear receptor SET domain-containing protein 1, nuclear receptor-binding SET domain-containing protein 1, truncated nuclear receptor binding SET domain protein 1, ARA267, KMT3B, SOTOS, SOTOS1, STO,)
• NCBI Gene ID: 64324
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q96MN8
  UNIPROT ID#>>Q96L73
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

nuclear receptor binding SET domain protein 1 interacts with:

• coiled-coil domain containing 125
  cysteine rich tail 1
  H4 histone 16
  keratin associated protein 6-2
  TPX2, microtubule-associated
  zinc finger protein 496

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.