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 ac... See more...

Aliases for NSD1 Gene

Aliases for NSD1 Gene

  • Nuclear Receptor Binding SET Domain Protein 1 2 3 5
  • ARA267 2 3 4
  • KMT3B 2 3 4
  • Histone-Lysine N-Methyltransferase, H3 Lysine-36 Specific 3 4
  • 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
  • Histone-Lysine N-Methyltransferase, H3 Lysine-36 And H4 Lysine-20 Specific 3
  • Truncated Nuclear Receptor Binding SET Domain Protein 1 3
  • Nuclear Receptor SET Domain-Containing Protein 1 3
  • Androgen Receptor-Associated Coregulator 267 3
  • Sotos Syndrome 2
  • H4-K20-HMTase 3
  • EC 2.1.1.357 4
  • EC 2.1.1.43 51
  • FLJ22263 2
  • SOTOS1 3
  • SOTOS 3
  • NSD1 5
  • STO 3

External Ids for NSD1 Gene

Previous HGNC Symbols for NSD1 Gene

  • STO

Previous GeneCards Identifiers for NSD1 Gene

  • GC05P176935
  • GC05P177404
  • GC05P176496
  • GC05P176541
  • GC05P176493
  • GC05P176560
  • GC05P171481

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. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]

GeneCards Summary for NSD1 Gene

NSD1 (Nuclear Receptor Binding SET Domain Protein 1) is a Protein Coding gene. Diseases associated with NSD1 include Sotos Syndrome 1 and Beckwith-Wiedemann Syndrome. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription coregulator activity. An important paralog of this gene is NSD2.

UniProtKB/Swiss-Prot Summary for NSD1 Gene

  • Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NSD1 Gene

Genomics for NSD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NSD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NSD1

Top Transcription factor binding sites by QIAGEN in the NSD1 gene promoter:
  • FOXO4
  • GATA-2
  • Nkx2-5
  • Pax-5
  • YY1

Genomic Locations for NSD1 Gene

Genomic Locations for NSD1 Gene
chr5:177,131,835-177,300,215
(GRCh38/hg38)
Size:
168,381 bases
Orientation:
Plus strand
chr5:176,560,026-176,727,216
(GRCh37/hg19)
Size:
167,191 bases
Orientation:
Plus strand

Genomic View for NSD1 Gene

Genes around NSD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSD1 Gene

Proteins for NSD1 Gene

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

    Protein Symbol:
    Q96L73-NSD1_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase, H3 lysine-36 specific
    Protein Accession:
    Q96L73
    Secondary Accessions:
    • Q96PD8
    • Q96RN7

    Protein attributes for NSD1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for NSD1 Gene

Selected DME Specific Peptides for NSD1 Gene

Q96L73:
  • WWPAEIC
  • KGEFVNEYVGELIDEEEC
  • RCPVAYH
  • CGKFYHE
  • ELTFNYN
  • GKWECPWH
  • TVCKCGA
  • QKWSVNG
  • IIDAGPKGN

Post-translational modifications for NSD1 Gene

  • Ubiquitination at Lys865 and Lys886
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NSD1

Domains & Families for NSD1 Gene

Gene Families for NSD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NSD1 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Zn-finger-like, PHD finger
  • Nuclear protein SET
  • SET-related region
  • PWWP domain
ProtoNet:

Suggested Antigen Peptide Sequences for NSD1 Gene

GenScript: Design optimal peptide antigens:
  • NSD1 protein (A4QPE5_HUMAN)
  • Nuclear receptor binding SET domain protein 1 (B2RWP5_HUMAN)
  • Nuclear receptor-binding SET domain-containing protein 1 (NSD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96L73

UniProtKB/Swiss-Prot:

NSD1_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
genes like me logo Genes that share domains with NSD1: view

Function for NSD1 Gene

Molecular function for NSD1 Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60308, Rhea:RHEA-COMP:9785, Rhea:RHEA-COMP:9787, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.357; Evidence={ECO:0000269|PubMed:21196496};.

Enzyme Numbers (IUBMB) for NSD1 Gene

Phenotypes From GWAS Catalog for NSD1 Gene

Gene Ontology (GO) - Molecular Function for NSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20837538
GO:0003682 chromatin binding ISS --
GO:0003712 transcription coregulator activity IDA 11509567
GO:0003714 transcription corepressor activity ISS --
GO:0005515 protein binding IPI 20080798
genes like me logo Genes that share ontologies with NSD1: view
genes like me logo Genes that share phenotypes with NSD1: view

Human Phenotype Ontology for NSD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NSD1 Gene

MGI Knock Outs for NSD1:
  • Nsd1 Nsd1<tm1.1Pcn>

Animal Model Products

CRISPR Products

miRNA for NSD1 Gene

miRTarBase miRNAs that target NSD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NSD1

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

Localization for NSD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSD1 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSD1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with NSD1: view

Pathways & Interactions for NSD1 Gene

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

Pathways by source for NSD1 Gene

2 KEGG pathways for NSD1 Gene
1 GeneTex pathway for NSD1 Gene

SIGNOR curated interactions for NSD1 Gene

Activates:

Gene Ontology (GO) - Biological Process for NSD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0000414 regulation of histone H3-K36 methylation IMP 20837538
GO:0006325 chromatin organization IEA --
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0010452 histone H3-K36 methylation IEA --
genes like me logo Genes that share ontologies with NSD1: view

Drugs & Compounds for NSD1 Gene

(2) Drugs for NSD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Lysine Approved, Experimental Nutra Agonist, Full agonist 0
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for NSD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with NSD1: view

Transcripts for NSD1 Gene

mRNA/cDNA for NSD1 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NSD1

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: - -
SP3:
SP4:

ExUns: 24
SP1:
SP2:
SP3:
SP4:

Relevant External Links for NSD1 Gene

GeneLoc Exon Structure for
NSD1

Expression for NSD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NSD1 Gene

Protein differential expression in normal tissues from HIPED for NSD1 Gene

This gene is overexpressed in Fetal Brain (13.2), Liver (10.0), Pancreas (9.2), Fetal gut (8.6), and Blymphocyte (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NSD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSD1

SOURCE GeneReport for Unigene cluster for NSD1 Gene:

Hs.106861

mRNA Expression by UniProt/SwissProt for NSD1 Gene:

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

Evidence on tissue expression from TISSUES for NSD1 Gene

  • Nervous system(4.2)
  • Skin(2.4)
  • Bone marrow(2.3)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Kidney(2.1)
  • Intestine(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NSD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NSD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for NSD1 Gene

Orthologs for NSD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NSD1 30 31
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NSD1 30 31
  • 91.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NSD1 30 31
  • 91.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nsd1 30 17 31
  • 86.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nsd1 30
  • 85.46 (n)
Oppossum
(Monodelphis domestica)
Mammalia NSD1 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NSD1 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NSD1 30 31
  • 65.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NSD1 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.20360 30
Zebrafish
(Danio rerio)
Actinopterygii nsd1a 31
  • 45 (a)
OneToMany
nsd1b 31
  • 43 (a)
OneToMany
Dr.19744 30
Fruit Fly
(Drosophila melanogaster)
Insecta Mes-4 31
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lin-59 31
  • 14 (a)
ManyToMany
Rice
(Oryza sativa)
Liliopsida Os.27622 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9549 31
  • 51 (a)
OneToMany
Species where no ortholog for NSD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for NSD1 (if available)
TreeFam:
Gene Tree for NSD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NSD1: view image

Paralogs for NSD1 Gene

(60) SIMAP similar genes for NSD1 Gene using alignment to 12 proteins:

  • NSD1_HUMAN
  • A4QPE5_HUMAN
  • B2RWP5_HUMAN
  • D6RA58_HUMAN
  • D6RA90_HUMAN
  • D6RBP3_HUMAN
  • D6RBV9_HUMAN
  • D6RE14_HUMAN
  • D6RG26_HUMAN
  • H7BYB0_HUMAN
  • L0R5C2_HUMAN
  • L8EAB5_HUMAN
genes like me logo Genes that share paralogs with NSD1: view

Variants for NSD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSD1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
635855 Likely Pathogenic: Neurodevelopmental disorder 177,283,873(+) G/C MISSENSE_VARIANT
637037 Pathogenic: Sotos syndrome 1 177,292,053(+) G/T NONSENSE
637041 Pathogenic: Sotos syndrome 1 177,210,534(+) T/TA FRAMESHIFT_VARIANT
638012 Pathogenic: Sotos syndrome 1 177,211,010(+) TC/T FRAMESHIFT_VARIANT
638500 Uncertain Significance: Sotos syndrome 1 177,294,720(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NSD1 Gene

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

Variant ID Type Subtype PubMed ID
dgv363n21 CNV gain 19592680
esv1011107 CNV deletion 20482838
esv2659977 CNV deletion 23128226
esv2664525 CNV deletion 23128226
esv2759396 CNV gain 17122850
esv3607687 CNV loss 21293372
esv3607688 CNV loss 21293372
nsv1131929 CNV deletion 24896259
nsv428132 CNV gain 18775914
nsv509101 CNV insertion 20534489
nsv515632 CNV gain 19592680
nsv521574 CNV loss 19592680
nsv521575 CNV gain 19592680
nsv525027 CNV gain 19592680
nsv600364 CNV loss 21841781
nsv823351 CNV gain 20364138
nsv980763 CNV duplication 23825009

Variation tolerance for NSD1 Gene

Residual Variation Intolerance Score: 0.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.94; 87.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSD1 Gene

Human Gene Mutation Database (HGMD)
NSD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSD1 Gene

Disorders for NSD1 Gene

MalaCards: The human disease database

(45) MalaCards diseases for NSD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sotos syndrome 1
  • sotos1
beckwith-wiedemann syndrome
  • bws
overgrowth syndrome
  • overgrowth
pre-eclampsia
  • toxemia of pregnancy
uvula, bifid
  • uvula, cleft
- elite association - COSMIC cancer census association via MalaCards
Search NSD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSD1_HUMAN
  • 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, ECO:0000269 PubMed:14997421}. 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}.

Additional Disease Information for NSD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NSD1: view

No data available for Genatlas for NSD1 Gene

Publications for NSD1 Gene

  1. Haploinsufficiency of NSD1 causes Sotos syndrome. (PMID: 11896389) Kurotaki N … Matsumoto N (Nature genetics 2002) 2 3 4 23
  2. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. (PMID: 19596467) Fagali C … Koiffmann CP (European journal of medical genetics 2009) 3 23 41
  3. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. (PMID: 17565729) Saugier-Veber P … Bürglen L (Human mutation 2007) 3 23 41
  4. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. (PMID: 18001468) Buxbaum JD … Betancur C (BMC medical genetics 2007) 3 23 41
  5. Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. (PMID: 16780628) de Boer L … Wit JM (Developmental medicine and child neurology 2006) 3 23 41

Products for NSD1 Gene

Sources for NSD1 Gene