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

Identity

HGNC NSD1
Location 5q35
Location_base_pair Starts at 176493439 and ends at 176659820 bp from pter (hg18-Mar_2006).

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

Nomenclature
HGNCNSD1   14234
Entrez_GeneNSD1  64324  nuclear receptor binding SET domain protein 1
Cards
AtlasNSD1ID356
GeneCardsNSD1
EnsemblNSD1 [Search_View]   ENSG00000165671 [Gene_View]
GenatlasNSD1
GeneLynxNSD1
eGenomeNSD1
euGene64324
Genomic and cartography
GoldenPathNSD1  -  5q35   chr5:176493439-176659820 +  5q35   [Description]    (hg18-Mar_2006)
EnsemblNSD1 - 5q35 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneNSD1
Gene and transcription
GenbankAF085858 [ ENTREZ ]
GenbankAF322907 [ ENTREZ ]
GenbankAF380302 [ ENTREZ ]
GenbankAF395588 [ ENTREZ ]
GenbankAK001546 [ ENTREZ ]
RefSeqNM_022455 [ SRS ]    NM_022455 [ ENTREZ ]
RefSeqNM_172349 [ SRS ]    NM_172349 [ ENTREZ ]
RefSeqAC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
RefSeqAC_000137 [ SRS ]    AC_000137 [ ENTREZ ]
RefSeqNC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
RefSeqNT_023133 [ SRS ]    NT_023133 [ ENTREZ ]
RefSeqNW_001838960 [ SRS ]    NW_001838960 [ ENTREZ ]
RefSeqNW_922796 [ SRS ]    NW_922796 [ ENTREZ ]
AceViewNSD1 AceView - NCBI
UnigeneHs.106861 [ SRS ]    Hs.106861 [ NCBI ]     HS106861 [ spliceNest ]
Fast-db13578 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ658U6 [ SRS]    Q658U6 [ EXPASY ]     Q658U6 [ INTERPRO ]     Q658U6 [ UNIPROT ]
PrositePS51215 AWS [ SRS ]    PS51215 AWS [ Expasy ]
PrositePS50868 POST_SET [ SRS ]    PS50868 POST_SET [ Expasy ]
PrositePS50280 SET [ SRS ]    PS50280 SET [ Expasy ]
InterproIPR006560 AWS [ SRS ]    IPR006560 AWS [ EBI ]
InterproIPR003616 Post-SET_Zn_bd [ SRS ]    IPR003616 Post-SET_Zn_bd [ EBI ]
InterproIPR001214 SET [ SRS ]    IPR001214 SET [ EBI ]
InterproIPR001965 Znf_PHD [ SRS ]    IPR001965 Znf_PHD [ EBI ]
InterproIPR013083 Znf_RING/FYVE/PHD [ SRS ]    IPR013083 Znf_RING/FYVE/PHD [ EBI ]
CluSTrQ658U6
PfamPF00856 SET [ SRS ]    PF00856 SET [ Sanger ]    pfam00856 [ NCBI-CDD ]
SmartSM00570 AWS [EMBL]
SmartSM00249 PHD [EMBL]
SmartSM00508 PostSET [EMBL]
SmartSM00317 SET [EMBL]
BlocksQ658U6
HPRD09455
Protein Interaction databases
DIPQ658U6
IntActQ658U6
Polymorphism : SNP, mutations, diseases
OMIM117550;130650;277590;601626;606681    [ map ]   
GENECLINICS117550;130650;277590;601626;606681
SNPNSD1 [dbSNP-NCBI]  
SNPNM_022455 [SNP-NCI]  
SNPNM_172349 [SNP-NCI]  
SNPNSD1 [GeneSNPs - Utah]  NSD1] [HGBASE - SRS]
HAPMAPNSD1 [HAPMAP]  
COSMICNSD1 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbNSD1 [Translocation breakpoints In Cancer]  
HGMDNSD1
General knowledge
Family BrowserNSD1 [UCSC Family Browser]
SOURCENM_022455
SOURCENM_172349
SMDHs.106861
SAGEHs.106861
GOnegative regulation of transcription from RNA polymerase II promoter [Amigo]  negative regulation of transcription from RNA polymerase II promoter
GOchromatin binding [Amigo]  chromatin binding
GOtranscription corepressor activity [Amigo]  transcription corepressor activity
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOtranscription [Amigo]  transcription
GOmethyltransferase activity [Amigo]  methyltransferase activity
GOzinc ion binding [Amigo]  zinc ion binding
GOchromatin modification [Amigo]  chromatin modification
GOhistone methylation [Amigo]  histone methylation
GOtransferase activity [Amigo]  transferase activity
GOligand-dependent nuclear receptor binding [Amigo]  ligand-dependent nuclear receptor binding
GOestrogen receptor binding [Amigo]  estrogen receptor binding
GOhistone lysine N-methyltransferase activity (H4-K20 specific) [Amigo]  histone lysine N-methyltransferase activity (H4-K20 specific)
GOpositive regulation of transcription, DNA-dependent [Amigo]  positive regulation of transcription, DNA-dependent
GOmetal ion binding [Amigo]  metal ion binding
GOretinoid X receptor binding [Amigo]  retinoid X receptor binding
GOthyroid hormone receptor binding [Amigo]  thyroid hormone receptor binding
GOhistone lysine N-methyltransferase activity (H3-K36 specific) [Amigo]  histone lysine N-methyltransferase activity (H3-K36 specific)
GOandrogen receptor binding [Amigo]  androgen receptor binding
KEGGLysine degradation
PubGeneNSD1
TreeFamNSD1
CTD64324 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeHSP2301A4
ProbeNSD1 Related clones (RZPD - Berlin)
PubMed
PubMed32 Pubmed reference(s) in Entrez

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written03-2002Lyndal 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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Oct 11 12:54:42 2008


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