| Written | 2002-03 | Lyndal Kearney |
| Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK |
| Identity |
| Alias_names | STO |
| Sotos syndrome | |
| Alias_symbol (synonym) | ARA267 |
| FLJ22263 | |
| KMT3B | |
| Other alias | |
| HGNC (Hugo) | NSD1 |
| LocusID (NCBI) | 64324 |
| Atlas_Id | 356 |
| Location | 5q35.2 [Link to chromosome band 5q35] |
| Location_base_pair | Starts at 177133832 and ends at 177300213 bp from pter ( according to hg19-Feb_2009) [Mapping NSD1.png] |
| Fusion genes (updated 2016) | ARMCX4 (Xq22.1) / NSD1 (5q35.2) | B4GALT7 (5q35.3) / NSD1 (5q35.2) | CDH23 (10q22.1) / NSD1 (5q35.2) |
| EEF2 (19p13.3) / NSD1 (5q35.2) | HNRNPA2B1 (7p15.2) / NSD1 (5q35.2) | NSD1 (5q35.2) / ANKRD28 (3p25.1) | |
| NSD1 (5q35.2) / CDH23 (10q22.1) | NSD1 (5q35.2) / FAT2 (5q33.1) | NSD1 (5q35.2) / NSD1 (5q35.2) | |
| NSD1 (5q35.2) / NUP98 (11p15.4) | NSD1 (5q35.2) / TBC1D1 (4p14) | NSD1 (5q35.2) / UNC5A (5q35.2) | |
| NSD1 (5q35.2) / ZNF346 (5q35.2) | NUP98 (11p15.4) / NSD1 (5q35.2) | STIM1 (11p15.4) / NSD1 (5q35.2) | |
| UIMC1 (5q35.2) / NSD1 (5q35.2) |
| DNA/RNA |
| Description | At least 23 exons. cDNA is 8552 bp, 8088 bp open reading frame |
| Transcription | Two transcripts: 9.0 and 10 kb |
| Protein |
 | |
| Description | 2696 amino acids. Murine Nsd1 is a nuclear protein containing SET, proline-tryptophan-tryptophan-proline (PWWP) and plant homedomain protein (PHD) finger domains. The protein has two distinct nuclear receptor (NR)-interaction domains (NID-L, NID+L). Human NSD1 shows 86% identity to the murine Nsd1 at the nucleotide level and 83% at the amino acid level, retaining the nuclear interaction domains (NID) as well as the SET/SAC and PHD finger domains. |
| Expression | Widely expressed |
| Function | Features of a basic transcription factor, also of a bifunctional transcriptional regulator, (similar to murine Nsd1) |
| Homology | NSD2: (Wolf-Hirschhorn syndrome critical region on 4p); NSD3: expressed in tumour cell lines |
| Implicated in |
| Note | |
| Entity | t(5;11)(q35;p15.5)/ acute non lymphoblastic leukemia (AML) |
| Disease | De novo childhood AML |
| Prognosis | Only 5 cases reported. All had poor response to treatment/short survival |
| Cytogenetics | Cryptic: associated with del(5q) (sole cytogenetic abnormality) or a normal karyotype |
| Hybrid/Mutated Gene | 5' NUP98- 3' NSD1 ; NSD1-NUP98 also present in all cases tested |
| Abnormal Protein | NH2 NUP98- COOH NSD1: Fuses the FXFG portion of NUP98 to the SET, SAC and PHD finger domains of NSD1. NSD1-NUP98: Fuses the RNA-binding domain of NSD1 to the NID domain NUP98 |
| Bibliography |
| NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. |
| Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P |
| Genomics. 2001 ; 74 (1) : 79-88. |
| PMID 11374904 |
| A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay. |
| Brown J, Jawad M, Twigg SR, Saracoglu K, Sauerbrey A, Thomas AE, Eils R, Harbott J, Kearney L |
| Blood. 2002 ; 99 (7) : 2526-2531. |
| PMID 11895789 |
| Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. |
| Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R |
| The EMBO journal. 1998 ; 17 (12) : 3398-3412. |
| PMID 9628876 |
| A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. |
| Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS |
| Blood. 2001 ; 98 (4) : 1264-1267. |
| PMID 11493482 |
| A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG) |
| Jaju RJ, Haas OA, Neat M, Harbott J, Saha V, Boultwood J, Brown JM, Pirc-Danoewinata H, Krings BW, Müller U, Morris SW, Wainscoat JS, Kearney L |
| Blood. 1999 ; 94 (2) : 773-780. |
| PMID 10397745 |
| Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. |
| Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N |
| Gene. 2001 ; 279 (2) : 197-204. |
| PMID 11733144 |
| NUP98 gene fusions in hematologic malignancies. |
| Lam DH, Aplan PD |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (11) : 1689-1695. |
| PMID 11681408 |
| WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. |
| Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT |
| Human molecular genetics. 1998 ; 7 (7) : 1071-1082. |
| PMID 9618163 |
| Citation |
| This paper should be referenced as such : |
| Kearney, L |
| NSD1 (nuclear receptor-binding, su(var), enhancer-of-zeste, trithorax domain-containing protein 1 |
| Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):191-192. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/NSD1ID356.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ] |
|
t(3;11)(p25;p15) ANKRD28/NUP98
t(5;11)(q35;p15.5) NUP98/NSD1 t(5;11)(q35;q12) NSD1/FEN1 |
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Beckwith-Wiedemann syndrome Sotos syndrome (SOS) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:13:44 CEST 2017 |
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