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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NSD1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID64324
Official gene symbolNSD1
Full namenuclear receptor binding SET domain protein 1
Aliases,ARA267,DKFZp666C163,FLJ10684,FLJ22263,FLJ44628,KMT3B,SOTOS,STO,
Gene summaryThis 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]
LocationChromosome: 5   Locus: 5q35.2-q35.3
Gene position176560080 - 176727214  Map Viewer
Gene orientationplus
Gene size167135 bp
Gene sequence
OMIM ID606681