NSD1 Gene
protein-coding GIFtS: 60
GCID: GC05P176560
|
|
nuclear receptor binding SET domain protein 1(Previous name: Sotos syndrome )
(Previous symbol: STO)
| |
Aliases
for NSD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Nuclear Receptor Binding SET Domain Protein 11 2 | | H4-K20-HMTase2 3 | | ARA2671 2 3 5 | | NR-Binding SET Domain-Containing Protein2 3 | | KMT3B1 2 3 | | EC 2.1.1.433 8 | | STO1 2 5 | | FLJ222631 | | Androgen Receptor Coactivator 267 KDa Protein2 3 | | Sotos Syndrome1 | | Androgen Receptor-Associated Protein Of 267 KDa2 3 | | SOTOS2 | | Lysine N-Methyltransferase 3B2 3 | | SOTOS12 | | Nuclear Receptor-Binding SET Domain-Containing Protein 12 3 | | Androgen Receptor-Associated Coregulator 2672 | | H3-K36-HMTase2 3 | | Histone-Lysine N-Methyltransferase, H3 Lysine-36 And H4 Lysine-20 Specific2 |
Export aliases for NSD1 gene to outside databasesPrevious GC identifers: GC05P176935 GC05P177404 GC05P176496 GC05P176541 GC05P176493 GC05P171481 |
Summaries
for NSD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
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 planthomeodomain (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 associatedcoregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctionaltranscriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. Oneversion of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurringwithin nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 andnucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for thisgene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (invitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription,depending on the cellular context
|
Genomic Views
for NSD1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_023133.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the NSD1 gene promoter:
Pax-5 FOXO4 Nkx2-5 GATA-2 YY1
Other transcription factors
Search SABiosciences Chromatin IP Primers for NSD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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: 5q35NSD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P176560: view genomic region
(about GC identifiers)
Start:
|
176,560,026 bp from pter |
End:
|
176,727,216 bp from pter |
Size:
|
167,191 bases |
Orientation:
|
plus strand |
|
Proteins
for NSD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 ligandthe interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRAand ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with AR DNA- andligand-binding domains
Subcellular location: Nucleus. Chromosome (Probable)
1 PDB 3D structure from  and Proteopedia  for NSD1:3OOI (3D)
Secondary accessions: Q96PD8 Q96RN7Alternative 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 modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96L73
4/9 DME Specific Peptides for NSD1 (Q96L73) (see all 9)
NSD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_071900.2 NP_758859.1
ENSEMBL proteins: ENSP00000423982 ENSP00000423372 ENSP00000395929 ENSP00000426428 ENSP00000343209 ENSP00000364499 ENSP00000425120 ENSP00000424024 ENSP00000422996 ENSP00000424096 ENSP00000423048 ENSP00000354310 ENSP00000346111
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
NSD1 for ontologies About GeneDecksing
NSD1 Antibody Products:
Assay Products for NSD1: |
Protein
Domains /
Families
for NSD1 gene(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):Graphical View of Domain Structure for InterPro Entry Q96L73ProtoNet 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, Q96L73Similarity: Belongs to the histone-lysine methyltransferase familySimilarity: Contains 1 AWS domainSimilarity: Contains 4 PHD-type zinc fingersSimilarity: Contains 1 post-SET domainSimilarity: Contains 2 PWWP domainsSimilarity: Contains 1 SET domain |
Function
for NSD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (invitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription,depending on the cellular contextCatalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +N(6)-methyl-L-lysine-[histone]Enzyme Number (IUBMB): EC 2.1.1.431 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSD1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSD1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NSD1 (NM_019048) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NSD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSD1 |
Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table
NSD1 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for NSD1:
Animal Models:
Mouse knock-out Nsd1tm1.1Pcn for NSD1
3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Nsd1):
NSD1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for NSD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Lysine degradation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for NSD1):
NSD1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NSD1
5/8 Interacting proteins for NSD1 (Q96L733) via UniProtKB, MINT, STRING, and/or I2D (see all 8)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | 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:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0010452 | histone H3-K36 methylation |
ISS | -- | | GO:0016571 | histone methylation |
ISS | -- |
NSD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for NSD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for NSD1
3 HMDB Compounds for NSD1 About this table
Search CenterWatch for drugs/clinical trials and news about NSD1
|
Transcripts
for NSD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for NSD1 gene (2 alternative transcripts): NM_022455.4 NM_172349.2 Unigene Cluster for NSD1: Nuclear receptor binding SET domain protein 1 Hs.106861 [show with all ESTs]Unigene Representative Sequence: NM_02245515 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000512992 ENST00000510954 ENST00000508896 ENST00000439151(uc003mfp.2 uc003mfq.3 uc003mfr.4 uc003mfs.1 uc011dfx.2 uc021yip.1)
ENST00000511258 ENST00000347982 ENST00000375350 ENST00000508029 ENST00000503056
ENST00000504457 ENST00000505395 ENST00000515735 ENST00000513736 ENST00000361032
ENST00000354179(uc003mft.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSD1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSD1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: NSD1 (NM_019048) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NSD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSD1 |
Additional cDNA sequence: AF085858.1 AF380302.1 AF395588.1 AK001546.1 AK025916.1 AK026066.1 AK055187.1 AK056667.1 AK091358.1 AK126591.1 AL832983.1 AY049721.1 BC021961.2 BC139789.1 BC144629.1 BC150628.1 21 DOTS entries: DT.413122 DT.97844266 DT.207473 DT.102833101 DT.203517 DT.101955886 DT.120875080 DT.95371947 DT.91892016 DT.120875125 DT.95261209 DT.95367413 DT.100650285 DT.120875095 DT.120875108 DT.120875152 DT.40264747 DT.75128463 DT.92416826 DT.100772549 DT.91982428 24/168 AceView cDNA sequences (see all 168): CK431014 AF395588 AI590839 BM754679 NM_172349 BQ212754 BX489775 AA443596 AF380302 BM983174 AA552939 AL832983 BE885420 BM479849 AA664396 AW962112 BU101540 AK056667 BM457114 BM835068 BC021961 AK055187 AW196354 AA972919
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for NSD1 About this scheme
| 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: | | |
ECgene alternative splicing isoforms for NSD1
|
Expression
for NSD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NSD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACTGTAATT
About this image
See NSD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NSD1
SOURCE GeneReport for Unigene cluster: Hs.106861
UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73Tissue specificity: Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly inthe lung
SABiosciences Expression via Pathway-Focused PCR Arrays including NSD1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NSD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NSD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSD1 |
Orthologs
for NSD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for NSD1 gene from 7/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Nsd11 , 5 |
nuclear receptor-binding SET-domain protein 11, 5 |
86.03(n)1
84.18(a)1 |
|
13 (29.80 cM)5
181931 NM_008739.31 NP_032765.31
552097825 |
chicken
(Gallus gallus) |
Aves |
NSD11 |
nuclear receptor binding SET domain protein 1 |
62.97(n)
57.62(a) |
|
416214 XM_414538.3 XP_414538.3 |
tropical clawed frog
(Xenopus tropicalis) |
Amphibia |
Str.203602 |
Transcribed sequence with weak similarity to protein more |
80.21(n) |
|
141991062 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.197442 |
Transcribed sequence with weak similarity to protein more |
75.48(n) |
|
BI876105.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
ash16Mes-46 |
Mes-4 |
7(a)22(a) |
possible orthologmany → 1 |
3L(19583873-19591855) 3R(23758704-23763571) |
worm
(Caenorhabditis elegans) |
Secernentea |
mes-46mes-26 |
Histone-lysine N-methyltransferase mes-2 |
12(a)12(a) |
possible orthologpossible ortholog |
V(13433040-13437533) II(14383900-14388414) |
rice
(Oryza sativa) |
Liliopsida |
Os.276222 |
Oryza sativa (japonica cultivar-group) cDNA clone0 more |
75.49(n) |
|
AK060843.1 |
ENSEMBL Gene Tree for NSD1 (if available)
TreeFam Gene Tree for NSD1 (if available) |
Paralogs
for NSD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for NSD1 gene
- EZH12 WHSC12 SUV39H22 WHSC1L12 SETDB22 SETD22 SUV39H12 EHMT12
- EHMT22 EZH22 SETDB12
18/53 SIMAP similar genes for NSD1 using alignment to 12 protein entries: NSD1_HUMAN (see all proteins)
(see all similar genes):DKFZp666C163 MTA3 COX7A2 IFT122 TMEM67 ZNF568
TJP1 HGSNAT PSD3 THADA ZNF23 ATL2
BCL2L13 C11orf80 LAMA5 SUN3 CNOT2 LRRC36
NSD1 for paralogs About GeneDecksing
|
Genomic Variants
for NSD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for NSD1 (176560026 - 176727216 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NSD1
2 CNVs: 51638 3589
Human Gene Mutation Database (HGMD): NSD1
Locus Specific Mutation Databases (LSDB): NSD1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NSD1 |
|
Disorders
/ Diseases
for NSD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NSD1 for disorders About GeneDecksing
OMIM gene information: 606681
OMIM disorders: 117550 601626 277590 130650
UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
Defects in NSD1 are the cause of Sotos syndrome type 1 (SOTOS1) [MIM:117550]; also known as cerebralgigantism. It is a disorder characterized by excessively rapid growth, acromegalic features, and a nonprogressivecerebral disorder with mental retardation. High-arched palate and prominent jaw are noted in several patients. Mostcases of Sotos syndrome are sporadic and may represent new dominant mutation Defects in NSD1 are the cause of Weaver syndrome type 1 (WVS1) [MIM:277590]. A syndrome of accelerated growthand osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia withcamptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism,prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bonedevelopment is advanced over the rest of the hand Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a geneticallyheterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- andpostnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defectsand a predisposition to embryonal tumors Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocationt(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
20/37  diseases for NSD1 (see all 37): About MalaCardssotos syndrome weaver syndrome acute myeloid leukemia myeloid leukemia
beckwith-wiedemann syndrome wolf-hirschhorn syndrome abdominal wall defect williams-beuren syndrome
leukemia short stature nevo syndrome autism spectrum disorder
alpha thalassemia hypertonia macroglossia bronchial asthma
hypodontia acute lymphoblastic leukemia lymphoblastic leukemia overgrowth syndrome
2 diseases from the University of Copenhagen DISEASES database for NSD1:Sotos syndrome Patent ductus arteriosus 10/12 Novoseek disease relationships for NSD1 gene (see all 12) About this table
| 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) |
GeneTests: NSD1
Sotos Syndrome
Genetic Association Database (GAD): NSD1
Human Genome Epidemiology (HuGE) Navigator: NSD1 (8 documents)
Export disorders for NSD1 gene to outside databases
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Publications
for NSD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for NSD1 gene, integrated from 9 sources (see all 105):
(articles sorted by number of sources associating them with NSD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Haploinsufficiency of NSD1 causes Sotos syndrome. (PubMed id 11896389)1, 2, 3, 9 Kurotaki N.... Matsumoto N. (2002)
- Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. (PubMed id 11733144)1, 2, 9 Kurotaki N....Matsumoto N. (2001)
- 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, 9 Douglas J.... Rahman N. (2003)
- Spectrum of NSD1 mutations in Sotos and Weaver syndromes. (PubMed id 12807965)1, 2, 9 Rio M.... Cormier-Daire V. (2003)
- Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. (PubMed id 15742365)1, 4, 9 Cecconi M....Faravelli F. (2005)
- Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. (PubMed id 14997421)1, 2, 9 Baujat G.... Colleaux L. (2004)
- 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, 9 Jaju R.J....Wainscoat J.S. (2001)
- 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, 9 De Boer L....Wit J.M. (2004)
- Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts. (PubMed id 15382262)1, 2, 9 La Starza R.... Mecucci C. (2004)
- The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. (PubMed id 21196496)1, 2 Qiao Q.... Xu R.M. (2010)
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External Searches for NSD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing NSD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
Other Databases showing NSD1 gene
(According to HUGE)
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| -- |
Specialized Databases showing NSD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for NSD1 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for NSD1 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NSD1 |
|
| | |
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
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Products
for NSD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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|
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for NSD1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NSD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NSD1 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for NSD1 | | OriGene 3'-UTR Clone for NSD1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NSD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSD1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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