Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS

Search by expression pattern Search by expression pattern



NSD1 Gene

protein-coding   GIFtS: 55

GC05P171481
nuclear receptor binding SET domain protein 1
(Previous name: Sotos syndrome )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: STO)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
nuclear receptor binding SET domain protein 11 2     STO2 5
ARA2671 2 3 5     Sotos syndrome1
KMT3B1 2 3     androgen receptor-associated coregulator 2672
FLJ222631 2     FLJ106842
Androgen receptor coactivator 267 kDa protein2 3     DKFZp666C1632
Lysine N-methyltransferase 3B2 3     SOTOS2
Androgen receptor-associated protein of 267 kDa2 3     FLJ446282
Nuclear receptor-binding SET domain-containing protein 12 3     histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific2
H4-K20-HMTase2 3     OTTHUMP000001614322
NR-binding SET domain-containing protein2 3     EC 2.1.1.433
H3-K36-HMTase2 3     

External Ids:    HGNC: 142341   Entrez Gene: 643242   Ensembl: ENSG000001656717   UniProtKB: Q96L733   

Export aliases for NSD1 gene to outside databases

Previous GC identifers: GC05P176935 GC05P177404 GC05P176496 GC05P176541 GC05P176493 GC05P176560


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NSD1:
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant
homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR)
transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated
coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional
transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One
version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring
within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and
nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this
gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in
vitro) (By similarity). Transcriptional intermediary factor capable of both negatively or positively influencing
transcription, depending on the cellular context


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSD1 gene promoter:
         Arnt   USF1   POU3F2   XBP-1   CREB   deltaCREB   NRSF form 2   NRSF form 1   FOXO1a   AP-2alphaA   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for NSD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for NSD1 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35

NSD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSD1 gene location

GeneLoc gene densities for chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P171481:  view genomic region     (about GC identifiers)

Start:
171,481,615 bp from pter
End:
171,647,948 bp from pter
Size:
166,334 bases
Orientation:
plus strand

1 alternative location:
Chr5+ 176,560,026-176,727,216     

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific  
Size: 2696 amino acids; 296652 Da
Subunit: Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand
the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA
and ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with AR DNA- and
ligand-binding domains
Subcellular location: Nucleus. Chromosome (Probable)
Secondary accessions: Q96PD8 Q96RN7
Alternative splicing: 3 isoforms:  Q96L73-1   Q96L73-2   Q96L73-3   

Explore the universe of human proteins at neXtProt for NSD1: NX_Q96L73 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_071900.2  NP_758859.1  


    ENSEMBL proteins: 
    ENSP00000343209 ENSP00000395929 ENSP00000424024 ENSP00000422996 ENSP00000423372 ENSP00000423982 
    ENSP00000425120 ENSP00000426428 ENSP00000348031 ENSP00000354310 ENSP00000391623 ENSP00000364499 
    ENSP00000423048 ENSP00000424096 ENSP00000346111 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for NSD1 
    Novus Biologicals Protein for NSD1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005694 chromosome IEA--
    About this table

    NSD1 for ontologies           About GeneDecksing



    Antibodies for NSD1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for NSD1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for NSD1 
    Novus Biologicals Antibodies for NSD1
    Browse antibodies at Epitomics

    Assays for NSD1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NSD1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for NSD1 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NSD1 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR001214 SET_dom
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR003616 Post-SET_dom
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q96L73

    ProtoNet protein and cluster: Q96L73

    5 Blocks protein families:
    IPB000313 PWWP domain
    IPB001214 Nuclear protein SET
    IPB001841 Zn-finger
    IPB001965 Zn-finger-like
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
    Similarity: Belongs to the histone-lysine methyltransferase family
    Similarity: Contains 1 AWS domain
    Similarity: Contains 4 PHD-type zinc fingers
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 2 PWWP domains
    Similarity: Contains 1 SET domain


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
    Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in
    vitro) (By similarity). Transcriptional intermediary factor capable of both negatively or positively influencing
    transcription, depending on the cellular context
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]
    Enzyme Number (IUBMB): EC 2.1.1.43 

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for NSD1
    Sigma-Aldrich shRNA for NSD1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): NSD1
    OriGene shRNA RFP (see all 2): NSD1
    OriGene basic RS shRNA (see all 2): NSD1
    OriGene siRNA (see all 2): NSD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NSD1 
    miRNA:Sigma-Aldrich microRNA Mimics for NSD1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NSD1 
    Search SABiosciences for Assays for microRNAs that regulate NSD1

    Gene
    Editing:
    Sigma-Aldrich CompoZr Knockout ZFN for NSD1 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NSD1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NSD1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): NSD1
    OriGene 3'-UTR clone (see all 2): NSD1 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for NSD1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for NSD1 

    5/19 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 19):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682 chromatin binding ISS--
    GO:0003712 transcription cofactor activity IDA11509567
    GO:0003714 transcription corepressor activity ISS--
    GO:0005509 calcium ion binding ----
    GO:0005515 protein binding IEA--
    About this table

    NSD1 for ontologies           About GeneDecksing

    Animal Models: 3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nsd1):

    embryogenesislethality-prenatal/perinatalno phenotypic analysis

    NSD1 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    NSD1 for pathways           About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  NSD1
        RAR Activation
    Lysine Degradation

    1 Kegg Pathway  (Kegg details for NSD1):
        hsa00310 Lysine degradation

        SABiosciences Pathway-Focused PCR Arrays including NSD1: PAHS-085A PAHS-086A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for NSD1
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NSD1

    5/14 Interacting proteins for NSD1 (ENSP000003480313) via UniProtKB, MINT, and/or STRING (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLOD1ENSP000001960613STRING: ENSP00000196061
    PLOD2ENSP000002829033STRING: ENSP00000282903
    PLOD3ENSP000002231273STRING: ENSP00000223127
    SPCS1ENSP000002330253STRING: ENSP00000233025
    SPCS3ENSP000002645973STRING: ENSP00000264597
    About this table

    5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001702 gastrulation with mouth forming second IEA--
    GO:0016568 chromatin modification IEA--
    GO:0016571 histone methylation ISS--
    GO:0045449 regulation of transcription IEA--
    About this table

    NSD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NSD1


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for NSD1
    Sigma-Aldrich shRNA for NSD1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): NSD1
    OriGene shRNA RFP (see all 2): NSD1
    OriGene basic RS shRNA (see all 2): NSD1
    OriGene siRNA (see all 2): NSD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NSD1 
    miRNA: Sigma-Aldrich microRNA Mimics for NSD1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NSD1 
    Search SABiosciences for Assays for microRNAs that regulate NSD1
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NSD1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NSD1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): NSD1
    OriGene 3'-UTR Clone (see all 2): NSD1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for NSD1 
    Primers: OriGene genome-wide validated SYBR primer pairs: NSD1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for NSD1: PPH02289A

    REFSEQ mRNAs for NSD1 gene (2 alternative transcripts): 

    NM_022455.4  NM_172349.2  

    24/168 AceView cDNA sequences (see all 168):

    BU101540 AW962112 BM835068 BM457114 BC021961 AK055187 AW196354 AA972919 
    AA872027 AI092329 AK025916 BX089603 NM_022455 AY049721 AI524180 AV725878 
    CK431014 AF380302 BM754679 BE885420 AI590839 AF395588 AA443596 AL832983 

    highest scoring ESTs for NSD1:

    AI590839 AA443596 AA872027 AA903829 AA972919 AF085858 AF380302 AF395588 AI524180 AI741927 


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NSD1

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^
    SP1:                                                                                                  -                                   -                     
    SP2:                                                                                                  -                                   -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 24
    SP1:      
    SP2:      
    SP3:      
    SP4:      

    About this scheme

    ECgene alternative splicing isoforms for NSD1
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347982 ENST00000439151(uc003mfp.2 uc003mfr.3 uc003mfs.1 uc011dfx.1)
    ENST00000503056 ENST00000504457 ENST00000508896 ENST00000510954 ENST00000508029
    ENST00000511258 ENST00000355783 ENST00000361032 ENST00000424831(uc003mfq.2)
    ENST00000512992 ENST00000375350 ENST00000513736 ENST00000515735 ENST00000505395
    ENST00000354179(uc003mft.3)

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    NSD1 expression in normal and diseased human tissues

    1  / 2  / 3

    9 probe-sets matching NSD1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    92098_at2, 3 U95-D 1 1.00 1.00 0.59 1.16 AI524180 0.80 1.00 0.91 1
    48066_at2, 3 U95-B 1 1.00 1.00 -0.00 1.28 AI768720 0.20 0.33 0.27 2
    49812_at2, 3 U95-B 1 1.00 1.00 0.17 1.27 AI590839 1.00 1.00 1.00 1
    68705_at2, 3 U95-E 1 0.81 1.00 0.28 0.59 H68211 0.80 1.00 0.91 1
    79236_at2, 3 U95-E 1 0.69 1.00 0.79 0.75 AA552939 0.60 1.00 0.82 1
    219084_at2, 3 U133-A 1 1.00 1.00 -- -- NM_022455 0.60 1.00 0.82 1
    225654_at2, 3 U133-B 1 1.00 1.00 -- -- AI768720 0.20 0.33 0.27 2
    219084_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    225654_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    NSD1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    NSD1 gene expression
    NSD1 gene electronic northern expression
    NSD1 gene sage expression
    About these images

    CGAP SAGE TAG: TACTGTAATT

    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
    Tissue specificity: Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in
    the lung

    Primers: OriGene genome-wide validated SYBR primer pairs: NSD1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for NSD1: PPH02289A
        SABiosciences Expression via Pathway-Focused PCR Arrays including NSD1: PAHS-085A PAHS-086A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for NSD1 gene from 5/9 species (see all 9)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NSD11   -- nuclear receptor binding SET domain protein 1 91.62(n)
    91.42(a)
    489094  XM_847345.1  XP_852438.1 
    chimpanzee
    (Pan troglodytes)
    NSD11   -- nuclear receptor binding SET domain protein 1 99.78(n)
    99.67(a)
    471754  XM_527132.2  XP_527132.2 
    cow
    (Bos taurus)
    NSD11   -- nuclear receptor binding SET domain protein 1 90.26(n)
    90.89(a)
    540197  XM_592234.3  XP_592234.3 
    rat
    (Rattus norvegicus)
    Nsd11   -- nuclear receptor binding SET domain protein 1 86.41(n)
    84.72(a)
    306764  XM_225168.4  XP_225168.4 
    mouse
    (Mus musculus)
    Nsd11 , 5 13 (29.80 cM)5
    nuclear receptor-binding SET-domain protein 11, 5 86.04(n)1
    84.18(a)1
    181931  NM_008739.31  NP_032765.31 
     AA0487615  AF0645535  (see all 45)
    About this table        Species with no ortholog for NSD1

    ENSEMBL Gene Tree for NSD1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for NSD1 gene
    SETD22  ASH1L2  WHSC12  WHSC1L12  

    NSD1 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/1388 NCBI SNPs in NSD1 are shown (see all 1388)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 5 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs1734271,2
    --176601579(-) tccgtC/Gtcaaa 2 -- int10--------
    rs1902861,2
    --176601599(-) ctgggC/Tgacaa 2 -- int10--------
    rs2447051,2
    --176601616(-) cgccaC/Ttgcac 2 -- int10--------
    rs2447081,2
    C,F,A,H,176589585(-) gccaaC/Tagggc 2 -- int114Minor allele frequency- T:0.46NS EA NA WA 786
    rs2447091,2
    C,F,A,H176587111(-) agttcG/Aagatc 2 -- int16Minor allele frequency- A:0.33NA WA 12
    rs2447321,2
    H176576376(-) caggcG/Atggtg 2 -- int14Minor allele frequency- A:0.00NS EA 418
    rs3808281,2
    --176601590(-) aagagC/Tgagac 2 -- int10--------
    rs4284501,2
    --176601589(-) agagcA/Gagact 2 -- int10--------
    rs4519581,2
    H176567362(-) CATTAC/GCTGAC 2 -- int15Minor allele frequency- G:0.00MN NS EA 600
    rs9184591,2
    C,F,O,H,176669030(+) TTTTCA/GTTCTA 2 -- int19Minor allele frequency- G:0.11NA EA NS 737
    About this table

    HapMap Linkage Disequilibrium images for NSD1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NSD1
         2 CNVs: 51638 3589

    QIAGEN SeqTarget long-range PCR primers for resequencing NSD1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NSD1 for disorders           About GeneDecksing

    OMIM: 606681   disorders: 117550  601626  277590  130650  

    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73

  • Defects in NSD1 are the cause of Sotos syndrome [MIM:117550]; also known as cerebral gigantism. It is a
  • disorder characterized by excessively rapid growth, acromegalic features, and a nonprogressive cerebral disorder with
    mental retardation. High-arched palate and prominent jaw are noted in several patients. Most cases of Sotos syndrome
    are sporadic and may represent new dominant mutation
  • Defects in NSD1 are the cause of Weaver syndrome (WES) [MIM:277590]. WES is a syndrome of accelerated growth
  • and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly
  • Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically
  • heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and
    postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects
    and a predisposition to embryonal tumors
  • Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation
  • t(5;11)(q35;p15.5) with NUP98
  • Note=A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS).
  • Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product

    10/12 Novoseek disease relationships for NSD1 gene (see all 12)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sotos syndrome 99 118 14571271 (6), 11896389 (4), 14997421 (4), 15452385 (4) (see all 48)
    weaver syndrome 95.1 11 12464997 (3), 12807965 (2), 14571271 (2), 16232326 (2) (see all 5)
    macrocephaly 91 11 18001468 (5), 14571271 (2), 16010675 (1), 16770806 (1) (see all 5)
    developmental delay 75.9 2 15452385 (1), 16970856 (1)
    mental retardation 66.5 12 16192740 (2), 14571271 (2), 12807965 (1), 18682256 (1) (see all 5)
    beckwith-wiedemann syndrome 60 3 16010674 (1), 16192740 (1), 14997421 (1)
    aml childhood 56.3 2 11493482 (1), 12353270 (1)
    heart defects congenital 50.8 2 15742365 (1), 19596467 (1)
    short stature 48.7 1 16770806 (1)
    congenital disorders 39.2 1 16202954 (1)
    About this table

    GeneTests: NSD1
    Sotos Syndrome

    Locus Specific Mutation Databases (LSDB): NSD1
    Human Gene Mutation Database (HGMD): NSD1
    Genetic Association Database (GAD): NSD1
    Human Genome Epidemiology (HuGE) Navigator: NSD1 (7 documents)

    Export disorders and mutations for NSD1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/91 PubMed articles for NSD1 gene, integrated from 7 sources (see all 91):
    (articles sorted by number of sources associating them with NSD1)
    1. Haploinsufficiency of NSD1 causes Sotos syndrome. (PubMed id 11896389)1, 2, 3, 7 Kurotaki N.... Matsumoto N. (2002)
    2. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. (PubMed id 11733144)1, 2, 7 Kurotaki N....Matsumoto N. (2001)
    3. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. (PubMed id 12464997)1, 2, 7 Douglas J.... Rahman N. (2003)
    4. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. (PubMed id 12807965)1, 2, 7 Rio M.... Cormier-Daire V. (2003)
    5. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. (PubMed id 15742365)1, 4, 7 Cecconi M....Faravelli F. (2005)
    6. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. (PubMed id 14997421)1, 2, 7 Baujat G.... Colleaux L. (2004)
    7. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. (PubMed id 11493482)1, 2, 7 Jaju R.J....Wainscoat J.S. (2001)
    8. Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. (PubMed id 15362962)1, 4, 7 De Boer L....Wit J.M. (2004)
    9. Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts. (PubMed id 15382262)1, 2, 7 La Starza R.... Mecucci C. (2004)
    10. Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells. (PubMed id 11509567)1, 2 Wang X....Chang C. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64324 HGNC: 14234 AceView: NSD1 Ensembl:ENSG00000165671 euGenes: HUgn64324
    ECgene: NSD1 Kegg: 64324 H-InvDB: NSD1

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for NSD1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NSD1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for NSD1 gene:
    Search GeneIP for patents involving NSD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for NSD1 Antibodies for NSD1
     Super-pooled esiRNAs for NSD1 Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for NSD1 microRNA Mimics for NSD1
     "Your Favorite Gene" Pathways and Molecular Interaction Networks Browse Nano Scale siRNA at Sigma-Aldrich
     Browse iPSC Reprogramming Factors at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
     Browse FLAG tag genes at Sigma-Aldrich Browse ELISAs at Sigma-Aldrich
     Browse microRNA Target Validation Systems at Sigma-Aldrich CompoZr Knockout ZFN for NSD1
    feedback
      
     Antibodies   Cell Culture Products  
     ELISAs   Flow Cytometry Kits  
     Primer Pairs   Kinase Activity Assays/Reagents  
     ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays  
     Apoptosis Detection Kits/Reagents   Protease Activity Assays/Reagents  
     DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents  
     Cell Selection/Detection Kits/Reagents   ELISA/Assay Development Kits/Reagents  
     Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins  
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Lysates
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     siRNA
     Custom Immunoassay Development
     Fluorogenic Cell Assay Kits
     miRNA Primers for qPCR Assays
     3' UTR Clones for miRNA Target Studies
     miRNA Expression Plasmids

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of NSD1
     SeqTarget long-range PCR primers for resequencing NSD1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for NSD1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of NSD1
     GenScript Custom Purified and Recombinant Proteins Services for NSD1 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for NSD1
     GenScript Custom Assay Services for NSD1 GenScript Custom Superior Antibodies Services for NSD1
     GenScript Custom overexpressing Cell Line Services for NSD1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in NSD1 promoter
     Search Chromatin IP Primers for NSD1
     RT2 qPCR Primer Assay for NSD1
     GNC Network for NSD1
     Search for Assays for microRNAs that regulate NSD1
     SABiosciences PCR Arrays including NSD1
     Search Tocris compounds for NSD1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Antibodies for NSD1
     Proteins for NSD1
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     ELISAs and CLIAs for NSD1
           

    GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

    View Random Gene

    Category
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    NSD1 gene at Home site.
    hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4