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Smg1 Gene Detail
Summary
  • Symbol
    Smg1
  • Name
    SMG1 nonsense mediated mRNA decay associated PI3K related kinase
  • Synonyms
    2610207I05Rik, 5430435M13Rik, C130002K18Rik, mKIAA0421, SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919742
    NCBI Gene: 233789
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:117730531-117842893 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 63.44 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1786 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919742
 protein coding gene Chr7:117730531-117843026 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032896
 protein coding gene Chr7:121942542-122069310 (-)
A/J MGP_AJ_G0032879
 protein coding gene Chr7:118866019-118978320 (-)
AKR/J MGP_AKRJ_G0032811
 protein coding gene Chr7:121879943-122014404 (-)
BALB/cJ MGP_BALBcJ_G0032884
 protein coding gene Chr7:118589341-118708470 (-)
C3H/HeJ MGP_C3HHeJ_G0032594
 protein coding gene Chr7:121800650-121920000 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033390
 protein coding gene Chr7:126810189-126940631 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030362
 protein coding gene Chr7:120332901-120439996 (-)
CAST/EiJ MGP_CASTEiJ_G0031922
 protein coding gene Chr7:113538303-113655438 (-)
CBA/J MGP_CBAJ_G0032567
 protein coding gene Chr7:131034751-131182929 (-)
DBA/2J MGP_DBA2J_G0032719
 protein coding gene Chr7:116904832-117024086 (-)
FVB/NJ MGP_FVBNJ_G0032672
 protein coding gene Chr7:116747552-116863489 (-)
LP/J MGP_LPJ_G0032813
 protein coding gene Chr7:123425451-123547170 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032704
 protein coding gene Chr7:132569020-132701210 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033410
 protein coding gene Chr7:120878126-121002055 (-)
PWK/PhJ MGP_PWKPhJ_G0031630
 protein coding gene Chr7:109793749-109916048 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031477
 protein coding gene Chr7:107626737-107748015 (-)
WSB/EiJ MGP_WSBEiJ_G0032035
 protein coding gene Chr7:121770912-121895327 (-)



Homology
more
  • Human Ortholog
    SMG1, SMG1 nonsense mediated mRNA decay associated PI3K related kinase
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMG1, SMG1 nonsense mediated mRNA decay associated PI3K related kinase
  • Synonyms
    61E3.4, ATX, LIP
  • Links
    NCBI Gene ID: 23049
    neXtProt AC: NX_Q96Q15
    UniProt: Q96Q15

  • Chr Location
    16p12.3; chr16:18804860-18926408 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    43 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    19 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.
Mice homozygous for a gene trap allele exhibit early embryonic lethality. Mice heteroygous for a gene trap allele exhibit abnormal tooth development, chronic inflammation, increased body weight, increased incidence of tumor formation and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    8
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
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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
    715
  • Tissues
    7
  • cDNA Data
    183
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030655 Ensembl Gene Model | MGI Sequence Detail 112363 C57BL/6J ±  kb
    transcript ENSMUST00000032891 Ensembl | MGI Sequence Detail 15557 Not Applicable  
    polypeptide ENSMUSP00000032891 Ensembl | MGI Sequence Detail 3658 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000015283 serine/threonine-protein kinase SMG1
      (term hierarchy)
    • EC
      2.7.11.1
    • InterPro Domains
      IPR011989 Armadillo-like helical
      IPR016024 Armadillo-type fold
      IPR050517 DNA Damage Response and Repair Kinase
      IPR003152 FATC domain
      IPR000403 Phosphatidylinositol 3-/4-kinase, catalytic domain
      IPR036940 Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily
      IPR018936 Phosphatidylinositol 3/4-kinase, conserved site
      IPR014009 PIK-related kinase
      IPR011009 Protein kinase-like domain superfamily
      IPR031559 Serine/threonine-protein kinase SMG1
      IPR035175 Serine/threonine-protein kinase SMG1, N-terminal
      IPR039414 SMG1, PIKK catalytic domain
    • GlyGen
      Q8BKX6 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 184
      cDNA 183
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1918594, MGI:2444194
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 3
      Gene Ontology 8
      Phenotypes 19
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory