Products

Fluorescent In Situ Hybridization (Cell)

Entrez GeneID

Gene Name

NSD1

Gene Alias

ARA267, DKFZp666C163, FLJ10684, FLJ22263, FLJ44628, KMT3B, SOTOS, STO

Gene Description

nuclear receptor binding SET domain protein 1

Omim ID

Gene Ontology

Gene 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

Other Designations

androgen receptor-associated coregulator 267