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 61
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 Lysine degradation and PKMTs methylate histone lysines. 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.
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
Regulatory Elements for NSD1 Gene
Enhancers for NSD1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around NSD1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the NSD1 gene promoter:
Regulatory Element Products
Genomic Location for NSD1 Gene
- Chromosome:
- 5
- Start:
- 177,133,025 bp from pter
- End:
- 177,300,215 bp from pter
- 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:
-
- 5q35.3 by Ensembl
- 5q35.3 by Entrez Gene
- 5q35.3 by HGNC
NSD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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 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
Other Protein References for NSD1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for NSD1
- Novus Biologicals Antibodies for NSD1
- Invitrogen Antibodies for NSD1
- antibodies-online Antibodies for NSD1: See all 33
- GeneTex NSD1 antibody 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
- Search GeneTex for Proteins for NSD1
Domains & Families for NSD1 Gene
Gene Families for NSD1 Gene
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
| 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:0008168 | methyltransferase activity | IEA | -- |
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
-
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 shRNA, siRNA, and RNAi products in human, mouse, rat for NSD1
- Browse OriGene Inhibitory RNA Products For NSD1
-
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
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 1 |
| 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 from RNA polymerase II promoter | 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 | -- |
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
-
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 shRNA, siRNA, and RNAi products in human, mouse, rat for NSD1
- Browse OriGene Inhibitory RNA Products For NSD1
-
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
| 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
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, 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_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)
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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for NSD1
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 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NSD1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | NSD1 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Nsd1 16 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Nsd1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NSD1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NSD1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NSD1 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NSD1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.20360 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nsd1a 35 |
|
OneToMany | |
| nsd1b 35 |
|
OneToMany | |||
| Dr.19744 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Mes-4 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | lin-59 35 |
|
ManyToMany | |
| rice (Oryza sativa) |
Liliopsida | Os.27622 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9549 35 |
|
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121908068 | Pathogenic, Sotos syndrome 1 (SOTOS1) [MIM:117550] | 177,292,124(+) | TACCA(C/G/T)GCAGA | reference, synonymous-codon | |
| rs121908069 | Pathogenic, Sotos syndrome 1 (SOTOS1) [MIM:117550] | 177,293,916(+) | CTTTT(C/G)TAAGC | reference, missense | |
| rs587784169 | Pathogenic, Sotos syndrome 1 (SOTOS1) [MIM:117550] | 177,282,523(+) | AGCTC(A/G)AATTC | reference, missense | |
| rs587784174 | Pathogenic, Sotos syndrome 1 (SOTOS1) [MIM:117550] | 177,283,791(+) | GGACC(A/G)AATCA | reference, missense | |
| rs587784176 | Pathogenic, Sotos syndrome 1 (SOTOS1) [MIM:117550] | 177,283,826(+) | ATGCT(A/C/T)GGTTC | reference, synonymous-codon, missense |
| 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 |
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)
Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sotos syndrome 1 |
|
|
| beckwith-wiedemann syndrome |
|
|
| beckwith-wiedemann syndrome due to nsd1 mutation |
|
|
| weaver syndrome 1 |
|
|
| 5q35 microduplication syndrome |
|
|
Search NSD1 in MalaCards
View complete list of genes associated with diseases
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.
Relevant External Links for NSD1
No data available for Genatlas for NSD1 Gene
Publications for NSD1 Gene
- Haploinsufficiency of NSD1 causes Sotos syndrome. (PMID: 11896389) Kurotaki N. … Matsumoto N. (Nat. Genet. 2002) 2 3 4 22 64
- MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. (PMID: 19596467) Fagali C. … Koiffmann C.P. (Eur J Med Genet 2009) 3 22 46 64
- Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. (PMID: 17565729) Saugier-Veber P. … BA1rglen L. (Hum. Mutat. 2007) 3 22 46 64
- Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. (PMID: 18001468) Buxbaum J.D. … Betancur C. (BMC Med. Genet. 2007) 3 22 46 64
- 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 J.M. (Dev Med Child Neurol 2006) 3 22 46 64
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