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Smg9 SMG9 nonsense mediated mRNA decay factor [ Mus musculus (house mouse) ]

Gene ID: 71997, updated on 26-Mar-2023

Summary

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Official Symbol
Smg9provided by MGI
Official Full Name
SMG9 nonsense mediated mRNA decay factorprovided by MGI
Primary source
MGI:MGI:1919247
See related
Ensembl:ENSMUSG00000002210 AllianceGenome:MGI:1919247
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1500002O20Rik
Summary
Predicted to enable identical protein binding activity. Involved in brain development; eye development; and heart development. Acts upstream of or within in utero embryonic development. Orthologous to human SMG9 (SMG9 nonsense mediated mRNA decay factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 49.3), thymus adult (RPKM 30.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Smg9 in Genome Data Viewer
Location:
7; 7 A3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (24096176..24122202)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (24397517..24422777)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38964 Neighboring gene potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 Neighboring gene immunity-related GTPase family, cinema 1 Neighboring gene uncharacterized LOC115486505 Neighboring gene predicted gene, 36159

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. Shaheen R, et al. Am J Hum Genet, 2016 Apr 7. PMID 27018474, Free PMC Article
  2. Accelerating functional gene discovery in osteoarthritis. Butterfield NC, et al. Nat Commun, 2021 Jan 20. PMID 33473114, Free PMC Article
  3. Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wilson R, et al. Wellcome Open Res, 2016. PMID 27996060, Free PMC Article
  4. Placentation defects are highly prevalent in embryonic lethal mouse mutants. Perez-Garcia V, et al. Nature, 2018 Mar 22. PMID 29539633, Free PMC Article
  5. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in SMG9 cause a multiple congenital anomaly syndrome in humans and mice
    Title: Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
nonsense-mediated mRNA decay factor SMG9; protein SMG9
Names
protein smg-9 homolog
smg-9 homolog, nonsense mediated mRNA decay factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001418953.1 → NP_001405882.1  nonsense-mediated mRNA decay factor SMG9 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC159140

  2. NM_001418954.1 → NP_001405883.1  nonsense-mediated mRNA decay factor SMG9 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC159140

  3. NM_028047.3 → NP_082323.1  nonsense-mediated mRNA decay factor SMG9 isoform 1

    See identical proteins and their annotated locations for NP_082323.1

    Status: VALIDATED

    Source sequence(s)
    AC159140
    Consensus CDS
    CCDS20949.1
    UniProtKB/Swiss-Prot
    Q8BYJ3, Q9DB90
    Related
    ENSMUSP00000002280.5, ENSMUST00000002280.11
    Conserved Domains (1) summary
    pfam10220
    Location:204 → 335
    Smg8_Smg9

RNA

  1. NR_184862.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC159140

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    24096176..24122202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030243003.2 → XP_030098863.1  protein SMG9 isoform X3

  2. XM_006540378.5 → XP_006540441.1  protein SMG9 isoform X2

    Conserved Domains (1) summary
    pfam10220
    Location:201 → 332
    Smg8_Smg9

  3. XM_006540377.1 → XP_006540440.1  protein SMG9 isoform X1

    See identical proteins and their annotated locations for XP_006540440.1

    UniProtKB/Swiss-Prot
    Q8BYJ3, Q9DB90
    Conserved Domains (1) summary
    pfam10220
    Location:204 → 335
    Smg8_Smg9
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9DB90.1 GenPept UniProtKB/Swiss-Prot:Q9DB90

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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