NSD1
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606681 Ensembl IDEnsembl:ENSG00000165671 HGNC IDHGNC:HGNC:14234 PHARMGKB IDPA31790 Map Location5q35.3 | |||||
GO terms in NSD1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISS | GO:0003682 | chromatin binding |
| MF | IDA | GO:0003712 | transcription coregulator activity |
| MF | ISS | GO:0003714 | transcription corepressor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
Gene expression in normal tissue: NSD1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NSD1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2369 | Histone Modifications |
| wikipathways | WP3651 | Pathways Affected in Adenoid Cystic Carcinoma |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NSD1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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