Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
NSD1
Name:
nuclear receptor binding SET domain protein 1
Location:
05q35.3
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: nuclear receptor binding SET domain protein 1
Symbol:
Description: 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 trithorac 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.
