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Setd1a Gene Detail
Summary
  • Symbol
    Setd1a
  • Name
    SET domain containing 1A
  • Synonyms
    KMT2F, MGC:55143, mKIAA0339
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446244
    NCBI Gene: 233904
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:127376561-127399294 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.73 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    78 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2446244
protein coding gene Chr7:127375842-127399294 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033053
protein coding gene Chr7:132149563-132173050 (+)
A/J MGP_AJ_G0033036
protein coding gene Chr7:128615883-128639402 (+)
AKR/J MGP_AKRJ_G0032968
protein coding gene Chr7:131942317-131966035 (+)
BALB/cJ MGP_BALBcJ_G0033037
protein coding gene Chr7:128270094-128293604 (+)
C3H/HeJ MGP_C3HHeJ_G0032751
protein coding gene Chr7:131844593-131868862 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033546
protein coding gene Chr7:137300076-137324789 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030519
protein coding gene Chr7:129816233-129841515 (+)
CAST/EiJ MGP_CASTEiJ_G0032080
protein coding gene Chr7:123640264-123665509 (+)
CBA/J MGP_CBAJ_G0032724
protein coding gene Chr7:141949422-141972839 (+)
DBA/2J MGP_DBA2J_G0032876
protein coding gene Chr7:126596790-126621006 (+)
FVB/NJ MGP_FVBNJ_G0032829
protein coding gene Chr7:126452729-126476331 (+)
LP/J MGP_LPJ_G0032970
protein coding gene Chr7:133622353-133646651 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032861
protein coding gene Chr7:143033651-143057420 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033566
protein coding gene Chr7:130930957-130958381 (+)
PWK/PhJ MGP_PWKPhJ_G0031787
protein coding gene Chr7:119608569-119632831 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031633
protein coding gene Chr7:117736949-117761604 (+)
WSB/EiJ MGP_WSBEiJ_G0032192
protein coding gene Chr7:131898485-131923262 (+)



Homology
more
  • Human Ortholog
    SETD1A, SET domain containing 1A, histone lysine methyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SETD1A, SET domain containing 1A, histone lysine methyltransferase
  • Synonyms
    EPEDD, EPEO2, KMT2F, NEDSID, Set1, Set1A
  • Links
    NCBI Gene ID: 9739
    neXtProt AC: NX_O15047
    UniProt: O15047

  • Chr Location
    16p11.2; chr16:30957294-30984664 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with Setd1a mouse models; 2 with human SETD1A associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 5 alleles in 4 genetic backgrounds
    23 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.
Animals homozygous for this allele were dead by E7.5
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 233904 NCBI Gene Model | MGI Sequence Detail 22734 C57BL/6J ±  kb
    transcript NM_178029 RefSeq | MGI Sequence Detail 5934 Not Specified  
    polypeptide E9PYH6 UniProt | EBI | MGI Sequence Detail 1716 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 9
      Primer pair 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 11
      Phenotypes 23
    • Earliest
      J:52869 Kutsuwada K, et al., Cloning and characterization of 5'-flanking region of mouse non-selective cation channel 1. Biochim Biophys Acta. 1999 Jan 18;1444(1):92-100
    • Latest
      J:338039 Obi-Nagata K, et al., Distorted neurocomputation by a small number of extra-large spines in psychiatric disorders. Sci Adv. 2023 Jun 9;9(23):eade5973

    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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    last database update
    03/12/2024
    MGI 6.23
    The Jackson Laboratory