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; 1 zebrafish

Gene Tree: Nsd1

Human homologs

Human Homolog		NSD1, nuclear receptor binding SET domain protein 1
NCBI Gene ID		64324
neXtProt AC		NX_Q96L73
Human Synonyms		ARA267, KMT3B, SOTOS, SOTOS1, STO
Human Chr (Location)		5q35; chr5:176560080-176727214 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human NSD1

Alleles and phenotypes

All alleles(391) : Targeted(2) Gene trapped(389)
 

Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10.

 

Gene Ontology (GO) classifications

All GO classifications: (35 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: (9 records)
Data Summary: Results (177)    Tissues (150)    Images (7)
Theiler Stages: 17, 18, 21, 22, 23, 24, 28

Assay Type	Results
RNA in situ	177

cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Nsd1

Sequences

Length	Strain/Species
genomic	18193	NCBI Gene Model | MGI Sequence Detail	108544	C57BL/6J
transcript	NM_008739	RefSeq | MGI Sequence Detail	12784	C57BL/6
polypeptide	O88491	UniProt | EBI | MGI Sequence Detail	2588	Not Applicable

All sequences(52) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(222 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:175792 Jelcick AS, et al., Genetic variations strongly influence phenotypic outcome in the mouse retina. PLoS One. 2011;6(7):e21858
All references(45)

Other accession IDs

MGI:2145265