Homo sapiens Enzyme: Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Gene: NSD1 Accession Number: HS09264 (HumanCyc)

Synonyms: ARA267, KMT3B, Androgen receptor-associated coregulator 267, H3-K36-HMTase, H4-K20-HMTase, Lysine N-methyltransferase 3B, NR-binding SET domain-containing protein, Nuclear receptor-binding SET domain-containing protein 1

Citations: [Hoglund03, Douglas03, Kurotaki02, Kurotaki01, Wang01h, Jaju01]

Locations: nucleus

Map Position: [177,404,574 -> 177,565,270] (97.6 centisomes) on Chromosome 5
Length: 160697 bp

Unification Links: Ensembl:ENSG00000165671 , Entrez-gene:64324 , Entrez-Nucleotide:AF085858 , Entrez-Nucleotide:AF322907 , Entrez-Nucleotide:AF380302 , Entrez-Nucleotide:AF395588 , Entrez-Nucleotide:AK025916 , Entrez-Nucleotide:AK026066 , Entrez-Nucleotide:AY049721 , Entrez:AAK92049 , Entrez:AAL06645 , Entrez:AAL27991 , Entrez:AAL40694 , Entrez:BAB15281 , Entrez:BAB15346 , GeneCards:NSD1 , MOPED:Q96L73 , OMIM:606681 , RefSeq:NM_022455 , RefSeq:NM_172349 , RefSeq:NP_071900 , RefSeq:NP_758859 , UCSC Human Genome:NM_022455 , UniGene:99010 , UniProt:Q96L73

Gene-Reaction Schematic: ?

Gene-Reaction Schematic

GO Terms:

Biological Process: GO:0006355 - regulation of transcription, DNA-templated
Molecular Function: GO:0003677 - DNA binding
GO:0004872 - receptor activity
Cellular Component: GO:0005634 - nucleus

Enzymatic reaction of: Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

EC Number:

a [histone]-L-lysine + S-adenosyl-L-methionine <=> a [histone] N6-methyl-L-lysine + S-adenosyl-L-homocysteine + H+

The reaction direction shown, that is, A + B ↔ C + D versus C + D ↔ A + B, is in accordance with the direction in which it was curated.

The reaction is physiologically favored in the direction shown.

Gene Local Context (not to scale): ?

Gene local context diagram


Douglas03: Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N (2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes." Am J Hum Genet 72(1);132-43. PMID: 12464997

Hoglund03: Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto N (2003). "Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene." J Med Genet 40(1);51-4. PMID: 12525543

Jaju01: Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS (2001). "A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia." Blood 98(4);1264-7. PMID: 11493482

Kurotaki01: Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N (2001). "Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene." Gene 279(2);197-204. PMID: 11733144

Kurotaki02: Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (2002). "Haploinsufficiency of NSD1 causes Sotos syndrome." Nat Genet 30(4);365-6. PMID: 11896389

Wang01h: Wang X, Yeh S, Wu G, Hsu CL, Wang L, Chiang T, Yang Y, Guo Y, Chang C (2001). "Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells." J Biol Chem 276(44);40417-23. PMID: 11509567

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Please cite the following article in publications resulting from the use of HumanCyc: Genome Biology 6(1):1-17 2004
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