Atlas of Genetics and Cytogenetics in Oncology and Haematology
NSD1 (Nuclear receptor-binding, su(var), enhancer-of-zeste and trithorax domain-containing protein 1
| Identity |
| HGNC (Hugo) | NSD1 |
| LocusID (NCBI) | 64324 |
| Location | 5q35 |
| Location_base_pair | Starts at 176560833 and ends at 176727214 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| 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 |
| Entity | t(5;11)(q35;p15.5)/ acute non lymphoblastic leukemia (ANLL) |
| Disease | De novo childhood ANLL |
| 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 |
| External links |
| Bibliography |
| 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 |
| 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 |
| 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, Mˆºller U, Morris SW, Wainscoat JS, Kearney L |
| Blood. 1999 ; 94 (2) : 773-780. |
| PMID 10397745 |
| 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 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 |
| 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 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 03-2002 | Lyndal Kearney |
| Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK |
| Citation |
| This paper should be referenced as such : |
| Kearney L . NSD1 (Nuclear receptor-binding, su(var), enhancer-of-zeste and trithorax domain-containing protein 1. Atlas Genet Cytogenet Oncol Haematol. March 2002 . URL : http://AtlasGeneticsOncology.org/Genes/NSD1ID356.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37864/1/03-2002-NSD1ID356.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Apr 28 15:08:12 CEST 2012 |
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