Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NSD1 Gene

Aliases for NSD1 Gene

  • Nuclear Receptor Binding SET Domain Protein 1 2 3
  • ARA267 3 4 6
  • Nuclear Receptor-Binding SET Domain-Containing Protein 1 3 4
  • Androgen Receptor-Associated Protein Of 267 KDa 3 4
  • Androgen Receptor Coactivator 267 KDa Protein 3 4
  • NR-Binding SET Domain-Containing Protein 3 4
  • Lysine N-Methyltransferase 3B 3 4
  • H3-K36-HMTase 3 4
  • H4-K20-HMTase 3 4
  • EC 4 64
  • SOTOS1 3 6
  • KMT3B 3 4
  • STO 3 6
  • Histone-Lysine N-Methyltransferase, H3 Lysine-36 And H4 Lysine-20 Specific 3
  • Androgen Receptor-Associated Coregulator 267 3
  • Sotos Syndrome 2
  • SOTOS 3

External Ids for NSD1 Gene

Previous Symbols for NSD1 Gene

  • STO

Summaries for NSD1 Gene

Entrez Gene Summary for NSD1 Gene

  • 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, Jul 2008]

GeneCards Summary for NSD1 Gene

NSD1 (Nuclear Receptor Binding SET Domain Protein 1) is a Protein Coding gene. Diseases associated with NSD1 include lipedema and sotos syndrome 1. Among its related pathways are Lysine degradation. GO annotations related to this gene include chromatin binding and transcription cofactor activity. An important paralog of this gene is EHMT1.

UniProtKB/Swiss-Prot for NSD1 Gene

  • Histone methyltransferase. Preferentially methylates Lys-36 of histone H3 and Lys-20 of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSD1 Gene

Genomics for NSD1 Gene

Genomic Location for NSD1 Gene

177,133,025 bp from pter
177,300,215 bp from pter
167,191 bases
Plus strand

Genomic View for NSD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSD1 Gene

Regulatory Elements for NSD1 Gene

Proteins for NSD1 Gene

  • Protein details for NSD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
    Protein Accession:
    Secondary Accessions:
    • Q96PD8
    • Q96RN7

    Protein attributes for NSD1 Gene

    2696 amino acids
    Molecular mass:
    296652 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for NSD1 Gene

    Alternative splice isoforms for NSD1 Gene


neXtProt entry for NSD1 Gene

Proteomics data for NSD1 Gene at MOPED

Selected DME Specific Peptides for NSD1 Gene

Post-translational modifications for NSD1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys865 and Lys886

Domains for NSD1 Gene

Gene Families for NSD1 Gene

  • PHF :Zinc fingers, PHD-type
  • KMT :Chromatin-modifying enzymes / K-methyltransferases


  • Contains 1 AWS domain.:
    • Q96L73
  • Contains 1 post-SET domain.:
    • Q96L73
  • Contains 2 PWWP domains.:
    • Q96L73
  • Contains 1 SET domain.:
    • Q96L73
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.:
    • Q96L73
  • Contains 4 PHD-type zinc fingers.:
    • Q96L73
genes like me logo Genes that share domains with NSD1: view

Function for NSD1 Gene

Molecular function for NSD1 Gene

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

Enzyme Numbers (IUBMB) for NSD1 Gene

Gene Ontology (GO) - Molecular Function for NSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding ISS --
GO:0003712 transcription cofactor activity IDA 11509567
GO:0003714 transcription corepressor activity ISS --
GO:0005515 protein binding --
GO:0008270 zinc ion binding IDA 21196496
genes like me logo Genes that share ontologies with NSD1: view

Phenotypes for NSD1 Gene

genes like me logo Genes that share phenotypes with NSD1: view

Animal Models for NSD1 Gene

MGI Knock Outs for NSD1:

No data available for Transcription Factor Targeting and HOMER Transcription for NSD1 Gene

Localization for NSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSD1 Gene

Nucleus. Chromosome.

Subcellular locations from

Jensen Localization Image for NSD1 Gene COMPARTMENTS Subcellular localization image for NSD1 gene
Compartment Confidence
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for NSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with NSD1: view

Pathways for NSD1 Gene

SuperPathways for NSD1 Gene

Superpath Contained pathways
1 Lysine degradation
genes like me logo Genes that share pathways with NSD1: view

Pathways by source for NSD1 Gene

1 KEGG pathway for NSD1 Gene

Gene Ontology (GO) - Biological Process for NSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001702 gastrulation with mouth forming second IEA --
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0010452 histone H3-K36 methylation ISS --
genes like me logo Genes that share ontologies with NSD1: view

Compounds for NSD1 Gene

(3) HMDB Compounds for NSD1 Gene

Compound Synonyms Cas Number PubMed IDs
  • (+)-S-Lysine
  • (S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
genes like me logo Genes that share compounds with NSD1: view

Transcripts for NSD1 Gene

Unigene Clusters for NSD1 Gene

Nuclear receptor binding SET domain protein 1:
Representative Sequences:

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

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: - -

ExUns: 24

Relevant External Links for NSD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NSD1 Gene

mRNA expression in normal human tissues for NSD1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSD1 Gene

SOURCE GeneReport for Unigene cluster for NSD1 Gene Hs.106861

mRNA Expression by UniProt/SwissProt for NSD1 Gene

Tissue specificity: Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung
genes like me logo Genes that share expressions with NSD1: view

Orthologs for NSD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NSD1 36
  • 99.77 (n)
  • 99.67 (a)
NSD1 37
  • 100 (a)
(Bos Taurus)
Mammalia NSD1 36
  • 91.72 (n)
  • 94.26 (a)
NSD1 37
  • 91 (a)
(Canis familiaris)
Mammalia NSD1 36
  • 91.6 (n)
  • 91.42 (a)
NSD1 37
  • 91 (a)
(Mus musculus)
Mammalia Nsd1 36
  • 86.04 (n)
  • 84.18 (a)
Nsd1 16
Nsd1 37
  • 84 (a)
(Monodelphis domestica)
Mammalia NSD1 37
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia NSD1 37
  • 64 (a)
(Rattus norvegicus)
Mammalia Nsd1 36
  • 85.46 (n)
  • 84 (a)
(Gallus gallus)
Aves NSD1 36
  • 65.31 (n)
  • 60.91 (a)
NSD1 37
  • 57 (a)
(Anolis carolinensis)
Reptilia NSD1 37
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20360 36
(Danio rerio)
Actinopterygii Dr.19744 36
nsd1a 37
  • 45 (a)
nsd1b 37
  • 43 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mes-4 37
  • 25 (a)
(Caenorhabditis elegans)
Secernentea lin-59 37
  • 14 (a)
(Oryza sativa)
Liliopsida Os.27622 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9549 37
  • 51 (a)
Species with no ortholog for NSD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSD1 Gene

Gene Tree for NSD1 (if available)
Gene Tree for NSD1 (if available)

Paralogs for NSD1 Gene

genes like me logo Genes that share paralogs with NSD1: view

Variants for NSD1 Gene

Sequence variations from dbSNP and Humsavar for NSD1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs130082 -- 177,199,691(-) accag(-/G)aggca intron-variant
rs173427 -- 177,174,578(-) tccgt(C/G)tcaaa intron-variant
rs190286 -- 177,174,598(-) ctggg(C/T)gacaa intron-variant
rs244705 -- 177,174,615(-) cgcca(C/T)tgcac intron-variant
rs244708 -- 177,162,584(-) gccaa(C/T)agggc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSD1 Gene

Variant ID Type Subtype PubMed ID
dgv363n21 CNV Gain 19592680
nsv509101 CNV Insertion 20534489
nsv883157 CNV Loss 21882294
nsv823351 CNV Gain 20364138
nsv521574 CNV Loss 19592680
esv1011107 CNV Deletion 20482838
esv2659977 CNV Deletion 23128226
esv2664525 CNV Deletion 23128226
nsv521575 CNV Gain 19592680
dgv1878e1 CNV Complex 17122850
nsv428132 CNV Gain 18775914
nsv525027 CNV Gain 19592680
nsv515632 CNV Gain 19592680
dgv6379n71 CNV Loss 21882294
nsv883159 CNV Loss 21882294

Relevant External Links for NSD1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

Disorders for NSD1 Gene

(3) OMIM Diseases for NSD1 Gene (606681)


  • Sotos syndrome 1 (SOTOS1) [MIM:117550]: A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. {ECO:0000269 PubMed:11896389, ECO:0000269 PubMed:12464997, ECO:0000269 PubMed:12807965}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A 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. {ECO:0000269 PubMed:14997421}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:15382262}.

(2) University of Copenhagen DISEASES for NSD1 Gene

(12) Novoseek inferred disease relationships for NSD1 Gene

Disease -log(P) Hits PubMed IDs
sotos syndrome 99 102
weaver syndrome 95.1 10
macrocephaly 91 10
developmental delay 75.9 2
mental retardation 66.5 7

Relevant External Links for NSD1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with NSD1: view

Publications for NSD1 Gene

  1. Haploinsufficiency of NSD1 causes Sotos syndrome. (PMID: 11896389) Kurotaki N. … Matsumoto N. (Nat. Genet. 2002) 2 3 4 23
  2. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. (PMID: 11493482) Jaju R.J. … Wainscoat J.S. (Blood 2001) 3 4 23
  3. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. (PMID: 11733144) Kurotaki N. … Matsumoto N. (Gene 2001) 3 4 23
  4. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. (PMID: 12464997) Douglas J. … Rahman N. (Am. J. Hum. Genet. 2003) 3 4 23
  5. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. (PMID: 12807965) Rio M. … Cormier-Daire V. (J. Med. Genet. 2003) 3 4 23

Products for NSD1 Gene

Sources for NSD1 Gene

Back to Top