Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
NSD1 is a SET domain containing methyltransferase with specificity towards H3K36 and H4K20 (PMID: 19808676, PMID: 12151224). Mutations in NSD1 are linked to many diseases like Sotos syndrome, Weaver syndrome, Acute myeloid leukemia, multiple myelomas and lung cancers (PMID: 12807965, PMID: 12151224, PMID: 11896389, PMID: 15677557, PMID: 15983384).
| UniprotKB Accession | Q96L73 | |
|---|---|---|
| Alternative Name(s) | Androgen receptor coactivator 267 kDa protein, Androgen receptor-associated protein of 267 kDa, H3-K36-HMTase, H4-K20-HMTase, Lysine N-methyltransferase 3B, Nuclear receptor-binding SET domain-containing protein 1 (NR-binding SET domain-containing protein) | |
| Writer for PTM/s | H3K36me2, H4K20me2 | |
| EC number | 2.1.1.43 | |
| No. of coding genes | Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific is coded by following 1 non-allelic gene/s | |
| Gene name | nuclear receptor binding SET domain protein 1 | |
| Gene symbol | NSD1 | |
| Promoter region (-700 TSS +300) | Get sequence | |
| Previous Symbol/s | STO | |
| Aliases | ARA267, FLJ22263, KMT3B | |
| GeneID | 64324 | |
| Chromosomal location | 5q35 | |
| HGNC | 14234 | |
| Unigene | Hs.106861 | |
| MIM | 606681 | |
| RefSeq mRNA | NM_022455.4 | NM_172349.2 |
| RefSeq Protein | NP_071900.2 | NP_758859.1 |
| Disease associations | Neurological disorders: Sotos Syndrome; PMID: 11896389 Neurological disorder: Weaver syndrome; PMID: 12807965 Cancer: Acute myeloid leukaemia (AML); PMID: 11493482 | |
Lysine methyltransferases Histone-lysine N-methyltransferase EZH1, Histone-lysine N-methyltransferase EZH2, Histone-lysine N-methyltransferase MLL, Histone-lysine N-methyltransferase MLL2, Histone-lysine N-methyltransferase MLL3, Histone-lysine N-methyltransferase MLL4, Histone-lysine N-methyltransferase MLL5, Histone-lysine N-methyltransferase NSD3, Histone-lysine N-methyltransferase PRDM9, Histone-lysine N-methyltransferase SETD1A, Histone-lysine N-methyltransferase SETD1B, Histone-lysine N-methyltransferase SETD2, Histone-lysine N-methyltransferase SETD7, Histone-lysine N-methyltransferase SETD8, Histone-lysine N-methyltransferase SETDB1, Histone-lysine N-methyltransferase SETDB2, Histone-lysine N-methyltransferase SETMAR, Histone-lysine N-methyltransferase SUV39H1, Histone-lysine N-methyltransferase SUV39H2, Histone-lysine N-methyltransferase SUV420H1, Histone-lysine N-methyltransferase SUV420H2, Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific, Histone-lysine N-methyltransferase, H3 lysine-79 specific, Histone-lysine N-methyltransferase, H3 lysine-9 specific 3, Histone-lysine N-methyltransferase, H3 lysine-9 specific 5, N-lysine methyltransferase SMYD2, PR domain zinc finger protein 2, Probable histone-lysine N-methyltransferase ASH1L, Probable histone-lysine N-methyltransferase NSD2, SET and MYND domain-containing protein 3