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NSD1 (Nuclear receptor-binding, su (var), enhancer-of-zeste and trithorax domain-containing protein 1

Written2002-03Lyndal Kearney
Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK

(Note : for Links provided by Atlas : click)


Other alias
LocusID (NCBI) 64324
Atlas_Id 356
Location 5q35.2  [Link to chromosome band 5q35]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARMCX4 (Xq22.1) / NSD1 (5q35.2)B4GALT7 (5q35.3) / NSD1 (5q35.2)B4GALT7 (5q35.3) / NSD1 (5q35.3)
CDH23 (10q22.1) / NSD1 (5q35.2)CDH23 (10q22.1) / NSD1 (5q35.3)EEF2 (19p13.3) / NSD1 (5q35.2)
EEF2 (19p13.3) / NSD1 (5q35.3)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)NSD1 (5q35.3) / ANKRD28 (3p25.1)NSD1 (5q35.3) / CDH23 (10q22.1)
NSD1 (5q35.3) / EFNA5 (5q21.3)NSD1 (5q35.3) / FAT2 (5q33.1)NSD1 (5q35.3) / NUP98 (11p15.4)
NSD1 (5q35.3) / UNC5A (5q35.2)NSD1 (5q35.3) / ZNF346 (5q35.2)NUP98 (11p15.4) / NSD1 (5q35.2)
NUP98 (11p15.4) / NSD1 (5q35.3)STIM1 (11p15.4) / NSD1 (5q35.2)STIM1 (11p15.4) / NSD1 (5q35.3)
UIMC1 (5q35.2) / NSD1 (5q35.2)


Description At least 23 exons. cDNA is 8552 bp, 8088 bp open reading frame
Transcription Two transcripts: 9.0 and 10 kb


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 (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


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


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 :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 13 ]
  t(5;11)(q35;p15.5) NUP98/NSD1
t(5;11)(q35;q12) NSD1/FEN1
t(5;5)(q35;q35) LMAN2/NSD1
t(5;11)(q35;p15) NSD1/NUP98
t(5;11)(q35;p15) STIM1/NSD1
t(5;11)(q35;p15) NUP98/NSD1
t(3;11)(p25;p15) ANKRD28/NUP98
t(5;11)(q35;p15.5) NUP98/NSD1
t(5;11)(q35;q12) NSD1/FEN1
t(5;5)(q35;q35) LMAN2/NSD1
t(5;11)(q35;p15) NSD1/NUP98
t(5;11)(q35;p15) STIM1/NSD1
t(5;11)(q35;p15) NUP98/NSD1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  t(5;5)(q21;q35) NSD1/EFNA5
t(5;5)(q33;q35) NSD1/FAT2
B4GALT7/NSD1 (5q35)
NSD1/UNC5A (5q35)
NSD1/ZNF346 (5q35)
NSD1/ZNF346 (5q35)
t(5;10)(q35;q22) CDH23/NSD1
t(5;10)(q35;q22) NSD1/CDH23

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Sotos syndrome (SOS)

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)64324
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
Other database
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 18 17:45:55 CEST 2018

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