Symbol: Name: ID: |
NSD1 nuclear receptor binding SET domain protein 1 GFS:3600 |
Gene name: | NSD1 |
Chromosome: | 5q35 |
Previous Symbols: | STO |
Previous Names: | Sotos syndrome |
Aliases: | ARA267, FLJ22263, KMT3B |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1276545 | Rat Genome Database ID: | RGD:1307748 |
HGNC ID: | HGNC:14234 | RefSeq IDs: | NM_022455 |
Entrez Gene ID: | 64324 | Ensembl Gene ID: | ENSG00000165671 |
VEGA IDs: | OTTHUMG00000130846 | UniProt ID: | Q96L73 |
UCSC ID: | uc003mfr.3 | OMIM ID: | 606681 |
Pubmed: | PMID9628876 PMID 11896389 | ||
CCDS IDs: | CCDSCCDS4412.1 CCDS CCDS4413.1 |
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].
Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.
Products for NSD1 gene
Catalog | Product Name | Application | Company |
GFS:E03600 | nuclear receptor binding SET domain protein 1; ELISA kit | ELISA | n/a |
GFS:A03600 | nuclear receptor binding SET domain protein 1; Anti | ANTIBODIES | n/a |
GFS:P03600 | nuclear receptor binding SET domain protein 1; Protien | Protien | n/a |