NSD1 (Entrez ID: 64324)

Entrez Gene ID 64324
Official Gene Symbol NSD1 (GeneCards)
Full name nuclear receptor binding SET domain protein 1
Location 5q35.3
Other ids Vega : OTTHUMG00000130846
MIM : 606681
HGNC : HGNC:14234
Ensembl : ENSG00000165671
Other names STO, KMT3B, SOTOS, ARA267, SOTOS1
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, Jul 2008]

Variants

Found 27 variants in this database.