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Nsd1 Gene Detail
Summary
  • Symbol
    Nsd1
  • Name
    nuclear receptor-binding SET-domain protein 1
  • Synonyms
    KMT3B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276545
    NCBI Gene: 18193
Location & Maps
more
  • Sequence Map
    Chr13:55209782-55318325 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      108544 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NSD1, nuclear receptor binding SET domain protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    NSD1, nuclear receptor binding SET domain protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ARA267, KMT3B, SOTOS, SOTOS1, STO
  • Links
    NCBI Gene ID: 64324
    neXtProt AC: NX_Q96L73

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

Human Diseases
more
  • Diseases
    1 with Nsd1 mouse models; 2 with human NSD1 associations

Human Disease Mouse Models
       Sotos Syndrome 1; SOTOS1   OMIM: 117550 View 1 "NOT" model
       Beckwith-Wiedemann Syndrome; BWS   OMIM: 130650
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    393
  • Chemically induced (other)
    1
  • Gene trapped
    389
  • Targeted
    3
  • Genomic Mutations
    2 involving Nsd1
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    267 from dbSNP Build 142
Protein
Information
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Molecular
Reagents
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  • All nucleic 40
    Genomic 1
    cDNA 39

    Microarray probesets 6
Other
Accession IDs
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MGI:2145265
References
more
  • Summaries
    All 45
    Developmental Gene Expression 10
    Diseases 2
    Gene Ontology 10
    Phenotypes 11
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory