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Nsd1
Gene Detail
Symbol

Name
ID
Nsd1
nuclear receptor-binding SET-domain protein 1
MGI:1276545
Synonyms
KMT3B
Feature Type
protein coding gene
Genetic Map
Chromosome 13
29.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr13:55209782-55318325 bp, + strand
From NCBI annotation of GRCm38

  108544 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32543  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

HCOP human homology predictions: NSD1
Gene Tree: Nsd1

Human
homologs
NSD1, nuclear receptor binding SET domain protein 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 64324
neXtProt AC: NX_Q96L73

Human Synonyms: ARA267, KMT3B, SOTOS, SOTOS1, STO

Human Chr (Location): 5q35; chr5:177133025-177300213 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human NSD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(392) : Gene trapped(389) Targeted(3)
Genomic Mutations involving Nsd1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10.
 
Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Nsd1 interacts with 510 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (42 annotations)
Process chromatin modification, gastrulation with mouth forming second, ...
Component chromosome, histone methyltransferase complex, ...
Function androgen receptor binding, chromatin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (177)    Tissues (153)    Images (7)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 177
cDNA source data(34)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nsd1 ; ZFIN nsd1a, nsd1b    NEW 
Molecular
reagents
All nucleic(40) Genomic(1) cDNA(39)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000021488 (Evidence)
Entrez Gene 18193 (Evidence)
EC 2.1.1.43
Consensus CDS Project CCDS36673.1
International Mouse Phenotyping Consortium Status Nsd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 18193 NCBI Gene Model | MGI Sequence Detail 108544 C57BL/6J ±  kb
transcript NM_008739 RefSeq | MGI Sequence Detail 12784 C57BL/6 
polypeptide O88491 UniProt | EBI | MGI Sequence Detail 2588 Not Applicable 

For the selected sequences
All sequences(83) RefSeq(33) UniProt(4)
Polymorphisms
SNPs within 2kb(267 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006560 AWS
InterPro IPR003616 Post-SET domain
InterPro IPR000313 PWWP
InterPro IPR001214 SET domain
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR019787 Zinc finger, PHD-finger
InterPro IPR001965 Zinc finger, PHD-type
InterPro IPR019786 Zinc finger, PHD-type, conserved site
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000011441 histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
Graphical View of Protein Domain Structure
References
(Earliest) J:48279 Huang N, et al., Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J. 1998 Jun 15;17(12):3398-412
(Latest) J:212272 Wu J, et al., Two miRNA clusters, miR-34b/c and miR-449, are essential for normal brain development, motile ciliogenesis, and spermatogenesis. Proc Natl Acad Sci U S A. 2014 Jul 15;111(28):E2851-7
All references(45)
Disease annotation references (1)
Other
accession IDs
MGI:2145265

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory