Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

HGNC (Hugo) NSD1
LocusID (NCBI) 64324
Location 5q35.2
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
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131

External links

Nomenclature
HGNC (Hugo)NSD1   14234
Cards
AtlasNSD1ID356
Entrez_Gene (NCBI)NSD1  64324  nuclear receptor binding SET domain protein 1
GeneCards (Weizmann)NSD1
Ensembl (Hinxton)ENSG00000165671 [Gene_View]  chr5:176560833-176727214 [Contig_View]  NSD1 [Vega]
ICGC DataPortalENSG00000165671
cBioPortalNSD1
AceView (NCBI)NSD1
Genatlas (Paris)NSD1
WikiGenes64324
SOURCE (Princeton)NM_022455 NM_172349
Genomic and cartography
GoldenPath (UCSC)NSD1  -  5q35.2   chr5:176560833-176727214 +  5q35   [Description]    (hg19-Feb_2009)
EnsemblNSD1 - 5q35 [CytoView]
Mapping of homologs : NCBINSD1 [Mapview]
OMIM117550   130650   606681   
Gene and transcription
Genbank (Entrez)AF085858 AF322907 AF380302 AF395588 AK001546
RefSeq transcript (Entrez)NM_022455 NM_172349
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_009821 NT_023133 NW_001838960 NW_004929325
Consensus coding sequences : CCDS (NCBI)NSD1
Cluster EST : UnigeneHs.106861 [ NCBI ]
CGAP (NCI)Hs.106861
Alternative Splicing : Fast-db (Paris)GSHG0024510
Alternative Splicing GalleryENSG00000165671
Gene ExpressionNSD1 [ NCBI-GEO ]     NSD1 [ SEEK ]   NSD1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96L73 (Uniprot)
NextProtQ96L73  [Medical]
With graphics : InterProQ96L73
Splice isoforms : SwissVarQ96L73 (Swissvar)
Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)AWS (PS51215)    POST_SET (PS50868)    PWWP (PS50812)    SET (PS50280)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)AWS [organisation]   Post-SET_dom [organisation]   PWWP_dom [organisation]   SET_dom [organisation]   Zinc_finger_PHD-type_CS [organisation]   Znf_FYVE_PHD [organisation]   Znf_PHD [organisation]   Znf_PHD-finger [organisation]   Znf_RING [organisation]   Znf_RING/FYVE/PHD [organisation]  
Related proteins : CluSTrQ96L73
Domain families : Pfam (Sanger)PHD (PF00628)    PWWP (PF00855)    SET (PF00856)   
Domain families : Pfam (NCBI)pfam00628    pfam00855    pfam00856   
Domain families : Smart (EMBL)AWS (SM00570)  PHD (SM00249)  PostSET (SM00508)  PWWP (SM00293)  RING (SM00184)  SET (SM00317)  
DMDM Disease mutations64324
Blocks (Seattle)Q96L73
PDB (SRS)3OOI   
PDB (PDBSum)3OOI   
PDB (IMB)3OOI   
PDB (RSDB)3OOI   
Human Protein AtlasENSG00000165671 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ96L73
HPRD09455
IPIIPI00102107   IPI00173901   IPI00332367   IPI00448893   IPI00963897   IPI00964246   IPI00964665   IPI00915453   IPI00967710   IPI00965678   IPI00966692   IPI00967441   IPI00964779   
Protein Interaction databases
DIP (DOE-UCLA)Q96L73
IntAct (EBI)Q96L73
FunCoupENSG00000165671
BioGRIDNSD1
InParanoidQ96L73
Interologous Interaction database Q96L73
IntegromeDBNSD1
STRING (EMBL)NSD1
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  gastrulation with mouth forming second  chromatin binding  transcription cofactor activity  transcription corepressor activity  nucleus  chromosome  transcription, DNA-templated  zinc ion binding  histone H3-K36 methylation  histone H3-K36 methylation  histone methylation  estrogen receptor binding  histone H4-K20 methylation  histone methyltransferase activity (H4-K20 specific)  retinoic acid receptor binding  positive regulation of transcription, DNA-templated  retinoid X receptor binding  thyroid hormone receptor binding  histone methyltransferase activity (H3-K36 specific)  histone methyltransferase activity (H3-K36 specific)  androgen receptor binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  gastrulation with mouth forming second  chromatin binding  transcription cofactor activity  transcription corepressor activity  nucleus  chromosome  transcription, DNA-templated  zinc ion binding  histone H3-K36 methylation  histone H3-K36 methylation  histone methylation  estrogen receptor binding  histone H4-K20 methylation  histone methyltransferase activity (H4-K20 specific)  retinoic acid receptor binding  positive regulation of transcription, DNA-templated  retinoid X receptor binding  thyroid hormone receptor binding  histone methyltransferase activity (H3-K36 specific)  histone methyltransferase activity (H3-K36 specific)  androgen receptor binding  
Pathways : KEGGLysine degradation   
Protein Interaction DatabaseNSD1
Wikipedia pathwaysNSD1
Gene fusion - rearrangments
Rearrangement : TICdbNSD1 [5q35.2]  -  ANKRD28 [5q35.2]
Rearrangement : TICdbNUP98 [11p15.4]  -  NSD1 [9p24.1]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NSD1
snp3D : Map Gene to Disease64324
SNP (GeneSNP Utah)NSD1
SNP : HGBaseNSD1
Genetic variants : HAPMAPNSD1
Exome VariantNSD1
1000_GenomesNSD1 
ICGC programENSG00000165671 
Cancer Gene: CensusNSD1 
Somatic Mutations in Cancer : COSMICNSD1 
CONAN: Copy Number AnalysisNSD1 
Mutations and Diseases : HGMDNSD1
Mutations and Diseases : intOGenNSD1
Genomic VariantsNSD1  NSD1 [DGVbeta]
dbVarNSD1
ClinVarNSD1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM117550    130650    606681   
MedgenNSD1
GENETestsNSD1
Disease Genetic AssociationNSD1
Huge Navigator NSD1 [HugePedia]  NSD1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneNSD1
Homology/Alignments : Family Browser (UCSC)NSD1
Phylogenetic Trees/Animal Genes : TreeFamNSD1
Chemical/Protein Interactions : CTD64324
Chemical/Pharm GKB GenePA31790
Clinical trialNSD1
Cancer Resource (Charite)ENSG00000165671
Other databases
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=NSD1
Probes
ProbeHSP2301A4
Litterature
PubMed62 Pubmed reference(s) in Entrez
CoreMineNSD1
iHOPNSD1
OncoSearchNSD1

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

Search in all EBI   NCBI

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. 2002;6(3):191-192.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/NSD1ID356.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Sep 23 19:19:27 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.