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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
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:55357595-55466138 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 29.80 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    267 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1276545
 protein coding gene Chr13:55357595-55466138 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020588
 protein coding gene Chr13:54667955-54782402 (+)
A/J MGP_AJ_G0020542
 protein coding gene Chr13:52658558-52762224 (+)
AKR/J MGP_AKRJ_G0020520
 protein coding gene Chr13:54208631-54322431 (+)
BALB/cJ MGP_BALBcJ_G0020538
 protein coding gene Chr13:52886639-52994280 (+)
C3H/HeJ MGP_C3HHeJ_G0020337
 protein coding gene Chr13:54023098-54137604 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020972
 protein coding gene Chr13:56327700-56442457 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018554
 protein coding gene Chr13:50611864-50716527 (+)
CAST/EiJ MGP_CASTEiJ_G0019851
 protein coding gene Chr13:54118160-54222606 (+)
CBA/J MGP_CBAJ_G0020297
 protein coding gene Chr13:58475050-58600436 (+)
DBA/2J MGP_DBA2J_G0020420
 protein coding gene Chr13:52206427-52309175 (+)
FVB/NJ MGP_FVBNJ_G0020399
 protein coding gene Chr13:51672748-51789492 (+)
LP/J MGP_LPJ_G0020496
 protein coding gene Chr13:54936980-55051032 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020428
 protein coding gene Chr13:57964139-58081956 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021015
 protein coding gene Chr13:53793766-53904903 (+)
PWK/PhJ MGP_PWKPhJ_G0019607
 protein coding gene Chr13:52227997-52338736 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019434
 protein coding gene Chr13:52715086-52821033 (+)
WSB/EiJ MGP_WSBEiJ_G0019913
 protein coding gene Chr13:54147699-54259193 (+)



Homology
more
  • Human Ortholog
    NSD1, nuclear receptor binding SET domain protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSD1, nuclear receptor binding SET domain protein 1
  • Synonyms
    ARA267, KMT3B, SOTOS, SOTOS1, STO
  • Links
    NCBI Gene ID: 64324
    neXtProt AC: NX_Q96L73
    UniProt: Q96L73

  • Chr Location
    5q35.3; chr5:177131798-177300213 (+)  GRCh38
Human Diseases
more
  • Diseases
    5 with human NSD1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
 View 1 model
IDs
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
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    42
  • GO References
    13
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    891
  • Tissues
    159
  • cDNA Data
    34
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    • UniProt
      7 Sequences
    • Protein Ontology
      PR:000011441 histone-lysine N-methyltransferase, H3 lysine-36 specific
      (term hierarchy)
    • PDB
      2NAA, 8FBG, 8FBH
    • EC
      2.1.1.357
    • InterPro Domains
      IPR006560 AWS domain
      IPR047426 Histone-lysine N-methyltransferase NSD1 / NSD2, first PHD finger
      IPR041306 NSD, Cys-His rich domain
      IPR047432 Nuclear receptor-binding SET domain-containing protein 1, fifth PHD finger
      IPR047430 Nuclear receptor-binding SET domain-containing protein 1, fourth PHD finger
      IPR047428 Nuclear receptor-binding SET domain-containing protein 1, second PHD finger
      IPR047423 Nuclear receptor-binding SET domain-containing protein 1, second PWWP domain
      IPR047433 Nuclear receptor-binding SET domain-containing protein 1, SET domain
      IPR047429 Nuclear receptor-binding SET domain-containing protein 1, third PHD finger
      IPR003616 Post-SET domain
      IPR000313 PWWP domain
      IPR001214 SET domain
      IPR046341 SET domain superfamily
      IPR011011 Zinc finger, FYVE/PHD-type
      IPR019787 Zinc finger, PHD-finger
      IPR001965 Zinc finger, PHD-type
      IPR019786 Zinc finger, PHD-type, conserved site
      IPR013083 Zinc finger, RING/FYVE/PHD-type
      IPR001841 Zinc finger, RING-type
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 2
      cDNA 39
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2145265
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 14
      Diseases 2
      Gene Ontology 13
      Phenotypes 18
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:344238 Zheng Y, et al., Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities. Cell Rep. 2023 Dec 26;42(12):113496
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory