Property Summary

NCBI Gene PubMed Count 65
PubMed Score 133.94
PubTator Score 167.22

Knowledge Summary


No data available


  Differential Expression (7)

Disease log2 FC p
Rheumatoid Arthritis 1.300 1.4e-02
osteosarcoma 1.170 3.9e-03
atypical teratoid / rhabdoid tumor 1.100 2.7e-04
Alzheimer's disease 1.100 4.4e-02
Pick disease 1.500 1.0e-06
progressive supranuclear palsy 1.400 6.5e-03
ovarian cancer -1.900 4.8e-16

 GO Component (2)

Gene RIF (54)

26690673 The genome-wide impact of a highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome is described.
26613968 NSD1 mutation is associated with severe connective tissue laxity including aortic dilatation in Sotos syndrome.
26487424 NSD1 mutation is associated with Hyperinsulinemic hypoglycemia.
25942451 Studies indicate that the NSD methyltransferases NSD1, NSD2/WHSC1/MMSET and NSD3/WHSC1L1 were overexpressed, amplified or somatically mutated in multiple types of cancer, suggesting their critical role in cancer.
25494638 The results describe the binding of NSD1, 2 and 3 catalytic domains CD) on histone tails through recognition of histone-lysine and methylation properties.
25193115 NSD1 interacted with RNAPII and bound to GSTM3 -63A/C TATA box.
24951466 Acute myeloid leukemia can be reproduced in mice by transducing mouse mesenchymal stem cells with the human NUP98-NSD1 fusion and the FLT3-ITD mutated constracts.
24795065 This report describes, for the first time, a Korean family with two generations of Stotos syndrome resulting from a novel intragenic NSD1 mutation.
24412544 NSD1 prefers aromatic, hydrophobic, and basic residues at the -2, -1 and +2, and +1 sites of its substrate peptide in histone H3.
24019522 all of the H3K36-specific methyltransferases, including ASH1L, HYPB, NSD1, and NSD2 were inhibited by ubH2A, whereas the other histone methyltransferases, including PRC2, G9a, and Pr-Set7 were not affected by ubH2A.
23999921 support to the adoption of screening for NUP98-NSD1 in pediatric AML without otherwise favorable genetic markers
23975195 NSD1 interaction with liganded NRs including ERa, AR, RARa, RXRa, TRb, PPARg and VDR is mediated by an LXXLL motif. Interaction with the NR2E/F subfamily including COUP-TFI, COUP-TFII, EAR2 and TLX requires an overlapping F/YSXXLXXL/Y motif.
23592277 NSD1 mutations that cause Sotos syndrome are loss-of-function, primarily truncating mutations or missense mutations at key residues in functional domains. EZH2 mutations that cause Weaver syndrome are primarily missense variants
23333153 We performed a genetic analysis for Sotos syndrome which revealed a heterozygous mutation on the exon 23 of NSD1.
23190751 NSD1 abnormalities were identified in 15 (83%) patients. Among them, eight patients (53%) had 5q35 microdeletions and the other seven patients (47%) had seven different NSD1 intragenic mutations including four novel mutations
21972110 data suggest that Sotos point mutations in NSD1 PHD domains disrupt its transcriptional regulation by interfering with its ability to bind epigenetic marks and recruit cofactors.
21813447 NUP98/NSD1 identifies a previously unrecognized group of young AML patients, with distinct characteristics and dismal prognosis, for whom new treatment strategies are urgently needed.
21806967 these finding exposes a key regulatory and recognition mechanism driven by the flexibility of a loop at the interface of the SET and postSET region in NSD1 protein.
21597970 Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia.
21196496 The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
20837538 NSD1 regulates RNAP II recruitment to BMP4, and failure to do so leads to reduced gene expression and abrogated levels of H3K36Me and CTD phosphorylation.
20420030 study describes two boys with Sotos syndrome in whom PCR amplification & direct sequencing of the NSD1 gene identified 2 novel mutations not previously described: c.4736dupG in exon 12 and c.3938_3939insT in exon
20080798 Data describe a NF-kappaB regulatory pathway that is driven by reversible lysine methylation of p65, carried out by nuclear receptor-binding SET domain-containing protein 1 (NSD1) and F-box and leucine-rich repeat protein 11 (FBXL11).
19876911 The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1.
19596467 MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
19596467 Observational study of gene-disease association. (HuGE Navigator)
19545651 Familial Sotos syndrome caused by a novel missense mutation in NSD1 is reported.
19039236 Mutation analysis was performed in 4 patients with Sotos syndrome with typical phenotypic characteristics. In each of the 4 patients a NSD1 mutation was found (2 frame shifts, 1 nonsense and 1 missense mutation).
18001468 Observational study of genotype prevalence. (HuGE Navigator)
18001468 Screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.
17589499 study shows that NUP98-NSD1 induces acute myeloid leukemia in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes
17565729 Observational study of gene-disease association. (HuGE Navigator)
17565729 confirms the heterogeneity of NSD1 alterations in Sotos syndrome and therefore the need to complete sequencing analysis by screening for partial deletions and duplications to ensure an accurate molecular diagnosis
17561922 investigated the NSD1 cDNA sequence in genetically confirmed Sos patients harbouring truncating and missense mutations
17437319 The SET domain of NSD1 is involved in NIH3T3 cell growth by modulating serum dependence.
16780628 Observational study of gene-disease association. (HuGE Navigator)
16780628 NSD1 mutation patients showed less severe behavior problems and an easier temperament than NSD1 non-mutation patients, and ADHD was not a consistent finding in these patients.
16010675 REVIEW: mutational analysis in Sotos syndrome
15942875 analysis of 266 Sotos syndrome patients with NSD1 aberrations
15742365 Observational study of genotype prevalence. (HuGE Navigator)
15640245 Deletion of Low-copy repeats that are centromeric and telomeric to NSD1 is associated with Sotos syndrome
15623156 androgen signaling pathway might cross talk with apoptosis signaling pathway through the interaction between ARA267-alpha and DR6
15539801 Haploinsufficiency of NSD1 is the major cause of Sotos syndrome, and NSD1 plays a role in growth and brain development in humans.
15365454 Mutation or microdeletion of NSD1 is diagnostic of Sotos syndrome.
15362962 Observational study of gene-disease association. (HuGE Navigator)
15362962 NSD1(+/-) patients show endocrine and paracrine changes in the IGF system
14997421 genetic susceptibility in Beckwith-Wiedemann syndrome; NSD1 could be involved in imprinting of the chromosome 11p15 region
12931227 fused to NUP98 and frequently transcribed in childhool AML
12807965 In Sotos and Weaver syndromes mental retardation was consistently more severe in patients with NSD1 deletions.
12687502 In 26 patients with Soto's syndrome 18 of the 20 microdeletions occurred prezygotically in the paternally derived chromosome 5, whereas those in the maternally derived chromosome were found in only two cases
12525543 A novel 1 base pair mutation in the NSD1 gene is the cause of familial Sotos syndrome in a Sotos syndrome family.
12464997 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
11896389 Haploinsufficiency of NSD1 causes Sotos syndrome
11733144 The genomic structure of NSD1 consists of at least 23 exons, the cDNA is 8552 bp long, contains at least six functional domains (SET, PWWP-I, PWWP-II, PHD-I, PHD-II, and PHD-III) and ten putative nuclear localization signals.

AA Sequence

TCWSLGRGQDPKPEQNTLPALNQAPSSHKCAESEQK                                     2661 - 2696

Text Mined References (72)

PMID Year Title
26690673 2015 NSD1 mutations generate a genome-wide DNA methylation signature.
26613968 2016 Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
26487424 2016 Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
25942451 2015 The NSD family of protein methyltransferases in human cancer.
25494638 2014 In vitro histone lysine methylation by NSD1, NSD2/MMSET/WHSC1 and NSD3/WHSC1L.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25193115 2014 Role of NSD1 in H2O2-induced GSTM3 suppression.
24951466 2014 Potent co-operation between the NUP98-NSD1 fusion and the FLT3-ITD mutation in acute myeloid leukemia induction.
24795065 2014 First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
24412544 2014 Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.
24019522 2013 Histone H2A ubiquitination inhibits the enzymatic activity of H3 lysine 36 methyltransferases.
23999921 2013 NUP98-NSD1 fusion in association with FLT3-ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR.
23975195 2013 A signature motif mediating selective interactions of BCL11A with the NR2E/F subfamily of orphan nuclear receptors.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.
23333153 2013 Ovarian fibromatosis and sotos syndrome with a new genetic mutation.
23190751 2013 Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
21972110 2011 NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.
21813447 2011 NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern.
21806967 2011 Structural insights into the regulation and the recognition of histone marks by the SET domain of NSD1.
21597970 2011 Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21196496 2011 The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.
20837538 2010 Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function.
20420030 2010 Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
20080798 2010 Regulation of NF-kappaB by NSD1/FBXL11-dependent reversible lysine methylation of p65.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19876911 2009 Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.
19596467 MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
19545651 Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19039236 2009 Three novel mutations in greek sotos patients with rare clinical manifestations.
18987736 2008 DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18001468 2007 Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
17589499 2007 NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis.
17565729 2007 Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
17561922 2007 Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
17487921 2007 Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.
17437319 Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor-binding SET-domain-containing protein 1 (NSD1) or fission yeast su(var)3-9, enhancer-of-zeste, trithorax 2 (SET2).
16780628 2006 Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.
16010675 2005 NSD1 mutations in Sotos syndrome.
15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
15742365 2005 Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
15640245 2005 Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
15623156 2004 Androgen receptor coregulator ARA267-alpha interacts with death receptor-6 revealed by the yeast two-hybrid.
15580547 2005 Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.
15539801 2004 Molecular basis of Sotos syndrome.
15382262 2004 Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts.
15365454 2004 Clinical features of NSD1-positive Sotos syndrome.
15362962 2004 Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.
15169884 2004 Nizp1, a novel multitype zinc finger protein that interacts with the NSD1 histone lysine methyltransferase through a unique C2HR motif.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14997421 2004 Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12931227 2003 Frequency of NUP98-NSD1 fusion transcript in childhood acute myeloid leukaemia.
12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
12687502 2003 Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
12676901 2003 Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
12525543 2003 Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.
11733144 2001 Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.
11509567 2001 Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells.
11493482 2001 A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.
11266437 2001 Androgen receptor interacts with the positive elongation factor P-TEFb and enhances the efficiency of transcriptional elongation.
9628876 1998 Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.