Aliases for NSD1 Gene
Aliases for NSD1 Gene
- Nuclear Receptor Binding SET Domain Protein 1 2 3 5
- 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 2.1.1.43 4 56
External Ids for NSD1 Gene
- HGNC: 14234
- Entrez Gene: 64324
- Ensembl: ENSG00000165671
- OMIM: 606681
- UniProtKB: Q96L73
Previous HGNC Symbols for NSD1 Gene
- STO
Previous GeneCards Identifiers for NSD1 Gene
- GC05P176935
- GC05P177404
- GC05P176496
- GC05P176541
- GC05P176493
- GC05P176560
- GC05P171481
Summaries 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 Sotos Syndrome 1 and Beckwith-Wiedemann Syndrome. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription cofactor activity. An important paralog of this gene is NSD2.
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.
Additional gene information for NSD1 Gene
- Monarch Initiative
- Search for NSD1 at DataMed
- Search for NSD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSD1 Gene
Genomics for NSD1 Gene
GeneHancer (GH) Regulatory Elements for NSD1 Gene
Regulatory Element Products
Genomic Locations for NSD1 Gene
- chr5:177,133,025-177,300,215
- (GRCh38/hg38)
- Size:
- 167,191 bases
- Orientation:
- Plus strand
- chr5:176,560,026-176,727,216
- (GRCh37/hg19)
Genomic View for NSD1 Gene
- Cytogenetic band:
-
- 5q35.3 by Ensembl
- 5q35.3 by Entrez Gene
- 5q35.3 by HGNC


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 and H4 lysine-20 specific
- Protein Accession:
- Q96L73
- 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.
Protein Expression 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
Other Protein References for NSD1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NSD1
- Novus Biologicals Antibodies for NSD1
-
Abcam antibodies for NSD1
- Invitrogen Antibodies for NSD1
- Search GeneTex for Antibodies for NSD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for NSD1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for NSD1
- Origene Custom Protein Services for NSD1
- Novus Biologicals proteins for NSD1
- antibodies-online: Search results for available NSD1 related products ranked by validation data
- Search GeneTex for Proteins for NSD1
-
Abcam proteins for NSD1
Assay Products
- antibodies-online: Search results for available NSD1 related products ranked by validation data
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
Suggested Antigen Peptide Sequences for NSD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96L73UniProtKB/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.
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
Phenotypes From GWAS Catalog for NSD1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000979 | RNA polymerase II core promoter sequence-specific DNA binding | IDA | 20837538 |
GO:0003682 | chromatin binding | ISS | -- |
GO:0003712 | transcription cofactor activity | IDA | 11509567 |
GO:0003714 | transcription corepressor activity | ISS | -- |
GO:0005515 | protein binding | IPI | 20080798 |
Phenotypes for NSD1 Gene
- MGI mutant phenotypes for NSD1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for NSD1:
Animal Models for NSD1 Gene
- MGI Knock Outs for NSD1:
-
- Nsd1 tm1.1Pcn
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NSD1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for NSD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NSD1 gene
- Search ViGene Biosciences for NSD1
CRISPR Products
-
OriGene CRISPR knockouts for NSD1
- genomics-online: gRNA clones - Search results for 74 available NSD1 gene related products
- Overview of 74 available NSD1 gene related products
- Applied Biological Materials CRISPR for NSD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NSD1
- GenScript: Design CRISPR guide RNA sequences for NSD1
miRNA for NSD1 Gene
- miRTarBase miRNAs that target NSD1
-
- hsa-mir-423-5p (MIRT038162)
- hsa-mir-615-3p (MIRT040128)
- hsa-mir-186-5p (MIRT045301)
- hsa-mir-149-5p (MIRT045467)
- hsa-mir-23b-3p (MIRT046367)
- hsa-mir-374a-5p (MIRT096157)
- hsa-mir-1470 (MIRT166093)
- hsa-mir-3190-3p (MIRT166095)
- hsa-mir-1238-5p (MIRT215432)
- hsa-mir-3659 (MIRT215436)
- hsa-mir-4658 (MIRT215437)
- hsa-mir-4758-5p (MIRT215439)
- hsa-mir-6790-5p (MIRT215444)
- hsa-mir-3927-3p (MIRT313122)
- hsa-mir-6831-5p (MIRT313124)
- hsa-mir-6758-5p (MIRT313131)
- hsa-mir-6856-5p (MIRT313132)
- hsa-mir-218-5p (MIRT440088)
- hsa-mir-5581-3p (MIRT501736)
- hsa-mir-6832-5p (MIRT501737)
- hsa-mir-4451 (MIRT501738)
- hsa-mir-6077 (MIRT501739)
- hsa-mir-486-3p (MIRT501740)
- hsa-mir-7-5p (MIRT501741)
- hsa-mir-2115-5p (MIRT501742)
- hsa-mir-298 (MIRT501743)
- hsa-mir-4745-5p (MIRT501744)
- hsa-mir-4481 (MIRT501745)
- hsa-mir-3184-5p (MIRT501746)
- hsa-mir-6743-5p (MIRT501747)
- hsa-mir-4688 (MIRT501748)
- hsa-mir-4500 (MIRT501749)
- hsa-mir-4458 (MIRT501750)
- hsa-let-7i-5p (MIRT501751)
- hsa-let-7d-5p (MIRT501752)
- hsa-let-7b-5p (MIRT501753)
- hsa-let-7a-5p (MIRT501754)
- hsa-mir-98-5p (MIRT501755)
- hsa-let-7g-5p (MIRT501756)
- hsa-let-7c-5p (MIRT501757)
- hsa-let-7f-5p (MIRT501758)
- hsa-let-7e-5p (MIRT501759)
- hsa-mir-6749-3p (MIRT506395)
- hsa-mir-6792-3p (MIRT506396)
- hsa-mir-4691-5p (MIRT506397)
- hsa-mir-4469 (MIRT506398)
- hsa-mir-5695 (MIRT506399)
- hsa-mir-3667-3p (MIRT506400)
- hsa-mir-4667-3p (MIRT506401)
- hsa-mir-4286 (MIRT506402)
- hsa-mir-1224-3p (MIRT506403)
- hsa-mir-6809-5p (MIRT535612)
- hsa-mir-4708-3p (MIRT535613)
- hsa-mir-3922-5p (MIRT535614)
- hsa-mir-4717-5p (MIRT535615)
- hsa-mir-4753-5p (MIRT535616)
- hsa-mir-6513-5p (MIRT701322)
- hsa-mir-5089-5p (MIRT701323)
- hsa-mir-6728-5p (MIRT701324)
- hsa-mir-769-3p (MIRT701325)
- hsa-mir-450b-3p (MIRT701326)
- hsa-mir-4303 (MIRT701327)
- hsa-mir-513b-5p (MIRT701328)
- hsa-mir-3147 (MIRT701329)
- hsa-mir-4425 (MIRT701330)
- hsa-mir-664a-5p (MIRT701331)
- hsa-mir-4794 (MIRT701332)
- hsa-mir-4682 (MIRT701333)
- hsa-mir-125b-2-3p (MIRT701334)
- hsa-mir-4457 (MIRT701335)
- hsa-mir-6874-3p (MIRT701336)
- hsa-mir-148b-5p (MIRT701337)
- hsa-mir-3943 (MIRT701338)
- hsa-mir-892b (MIRT701339)
- hsa-mir-513b-3p (MIRT701340)
- hsa-mir-27b-3p (MIRT727063)
- hsa-mir-27a-3p (MIRT727064)
miRNA Products
- Search ViGene Biosciences for NSD1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for NSD1
- Browse OriGene Inhibitory RNA Products For NSD1
- genomics-online: shRNA clones - Search results for 74 available NSD1 gene related products
- Overview of 74 available NSD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NSD1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for NSD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NSD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for NSD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NSD1
-
ViGene Biosciences adenoviral particle packaged cDNA for NSD1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for NSD1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NSD1 gene
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.
- Nucleus (3)
- Plasma membrane (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
Pathways & Interactions for NSD1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | PKMTs methylate histone lysines | ||
3 | Lysine degradation | ||
4 | Pathways Affected in Adenoid Cystic Carcinoma |
Pathways by source for NSD1 Gene
1 GeneTex pathway for NSD1 Gene
2 BioSystems pathways for NSD1 Gene
3 Reactome pathways for NSD1 Gene
1 KEGG pathway for NSD1 Gene
Interacting Proteins 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:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0010452 | histone H3-K36 methylation | IEA | -- |
Drugs & Compounds for NSD1 Gene
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
29908-03-0 |
|
Transcripts for NSD1 Gene
mRNA/cDNA for NSD1 Gene
- (2) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (168) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for NSD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NSD1
- genomics-online: gRNA clones - Search results for 74 available NSD1 gene related products
- Overview of 74 available NSD1 gene related products
- Applied Biological Materials CRISPR for NSD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NSD1
- GenScript: Design CRISPR guide RNA sequences for NSD1
miRNA Products
- Search ViGene Biosciences for NSD1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for NSD1
- Browse OriGene Inhibitory RNA Products For NSD1
- genomics-online: shRNA clones - Search results for 74 available NSD1 gene related products
- Overview of 74 available NSD1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for NSD1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for NSD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NSD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for NSD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: |
Expression for NSD1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NSD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of NSD1 Gene:
NSD1SOURCE GeneReport for Unigene cluster for NSD1 Gene:
Hs.106861mRNA Expression by UniProt/SwissProt for NSD1 Gene:
Q96L73-NSD1_HUMANEvidence on tissue expression from TISSUES for NSD1 Gene
- Nervous system(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NSD1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- 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
- breast
- chest wall
- clavicle
- diaphragm
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- abdominal wall
- adrenal gland
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- testicle
- ureter
- urinary bladder
- uterus
- vagina
- vas deferens
- vulva
- 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
- blood
- blood vessel
- bone marrow
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for NSD1
- genomics-online: primer clones - Search results for 74 available NSD1 gene related products
- Overview of 74 available NSD1 gene related products
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | NSD1 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | NSD1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | NSD1 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Nsd1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Nsd1 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | NSD1 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | NSD1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | NSD1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | NSD1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.20360 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | nsd1a 34 |
|
OneToMany | |
nsd1b 34 |
|
OneToMany | |||
Dr.19744 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Mes-4 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | lin-59 34 |
|
ManyToMany | |
rice (Oryza sativa) |
Liliopsida | Os.27622 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9549 34 |
|
OneToMany |
- Species where no ortholog for NSD1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for NSD1 Gene
Paralogs for NSD1 Gene
(60) SIMAP similar genes for NSD1 Gene using alignment to 12 proteins:
- DKFZp666C163
- MTA3
- ZNF568
- TMEM67
- IFT122
- COX7A2
- ZNF480
- ZNF415
- TJP1
- ZNF23
- THADA
- PSD3
- HGSNAT
- ZNF83
- ZNF738
- SUN3
- ZNF616
- LAMA5
- BCL2L13
- ATL2
- PPIP5K2
- LRRC36
- CNOT2
- IPO7
- NDUFS7
- IFT74
- ECD
- FANCA
- TGFBR3
- SPSB4
- NSRP1
- NAIP
- CCPG1
- C15orf40
- BUB1B
- WHSC1
- QTRT1
- ACSM3
- SERF1B
- SCIMP
- KLHDC1
- ZNF506
- SCLT1
- SENP7
- HKR1
- ASB9
- DAPK2
- XKR9
- LRTOMT
- LGALS3
- DNAJA3
- WDR6
- C19orf47
- C19orf25
- C12orf23
- ZNHIT3
- AIRE
- CES4A
- CLEC2D
- WHSC1L1
Variants for NSD1 Gene
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1029632493 | uncertain-significance, Weaver syndrome, Sotos Syndrome | 177,296,880(+) | C/A/T | 3_prime_UTR_variant | |
rs1057516048 | likely-pathogenic, Sotos syndrome 1 | 177,283,796(+) | A/T | coding_sequence_variant, missense_variant | |
rs1057520339 | pathogenic, not provided, Beckwith-Wiedemann syndrome | 177,210,761(+) | C/T | coding_sequence_variant, stop_gained | |
rs1060501489 | uncertain-significance, Beckwith-Wiedemann syndrome | 177,267,696(+) | T/C | coding_sequence_variant, missense_variant | |
rs1060501490 | pathogenic, Beckwith-Wiedemann syndrome | 177,211,015(+) | AGGTGAGG/AGG | coding_sequence_variant, frameshift |
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 |
Additional Variant Information for NSD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSD1 Gene
Disorders for NSD1 Gene

(12) MalaCards diseases for NSD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
sotos syndrome 1 |
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beckwith-wiedemann syndrome |
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weaver syndrome |
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deletion 5q35 |
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5q35 microduplication syndrome |
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UniProtKB/Swiss-Prot
NSD1_HUMAN- 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 an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product. {ECO:0000269 PubMed:15382262}.
- Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
- 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.
Additional Disease Information for NSD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NSD1 Gene
Publications for NSD1 Gene
- Haploinsufficiency of NSD1 causes Sotos syndrome. (PMID: 11896389) Kurotaki N … Matsumoto N (Nature genetics 2002) 2 3 4 22 58
- 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 22 44 58
- Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. (PMID: 17565729) Saugier-Veber P … Bürglen L (Human mutation 2007) 3 22 44 58
- 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 22 44 58
- 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 22 44 58
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Sources for NSD1 Gene
- (1) GeneCards
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