Synonyms: Nuclear Receptor Binding SET Domain Protein 1,Nuclear Receptor-Binding SET Domain-Containing Protein 1,Androgen Receptor-Associated Protein Of 267 KDa,Androgen Receptor Coactivator 267 KDa Protein,NR-Binding SET Domain-Containing Protein,Lysine N-Methyltransferase 3B,H3-K36-HMTase,H4-K20-HMTase,EC 220.127.116.11.
Background: 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.