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    Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 [ Mus musculus (house mouse) ]

    Gene ID: 66414, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ndufa12provided by MGI
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A12provided by MGI
    Primary source
    MGI:MGI:1913664
    See related
    Ensembl:ENSMUSG00000020022 AllianceGenome:MGI:1913664
    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
    CIB17.2; CI-B17.2; 2410011G03Rik
    Summary
    Predicted to be involved in mitochondrial ATP synthesis coupled electron transport and response to oxidative stress. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and skeleton. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 23. Orthologous to human NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 187.5), kidney adult (RPKM 133.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ndufa12 in Genome Data Viewer
    Location:
    10 C2; 10 48.83 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (94034897..94057302)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (94199035..94221440)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene FYVE, RhoGEF and PH domain containing 6 Neighboring gene B-cell CLL/lymphoma 9-like pseudogene Neighboring gene nuclear receptor subfamily 2, group C, member 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:93661580-93661763 Neighboring gene predicted gene, 26122 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:93697972-93698081 Neighboring gene predicted gene, 32749 Neighboring gene STARR-seq mESC enhancer starr_27596 Neighboring gene predicted gene 4792

    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. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. Adjobo-Hermans MJW, et al. Biochim Biophys Acta Bioenerg, 2020 Aug 1. PMID 32335026
    2. The mitochondrial protease LONP1 maintains oocyte development and survival by suppressing nuclear translocation of AIFM1 in mammals. Sheng X, et al. EBioMedicine, 2022 Jan. PMID 34974310, Free PMC Article
    3. SCAF1 drives the compositional diversity of mammalian respirasomes. Vercellino I, et al. Nat Struct Mol Biol, 2024 Jul. PMID 38575788
    4. Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes. Signes A, et al. Essays Biochem, 2018 Jul 20. PMID 30030361, Free PMC Article
    5. Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions. McFarland MA, et al. Mol Cell Proteomics, 2008 Nov. PMID 18614564, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
      Title: NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • 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

    Clone Names

    • MGC7999, MGC107642

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial ATP synthesis coupled electron transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of respiratory chain complex I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
    Names
    13kDa differentiation-associated protein
    NADH-ubiquinone oxidoreductase subunit B17.2
    complex I-B17.2
    NP_001351620.1
    NP_079827.3

    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_001364691.1 → NP_001351620.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC138026
      UniProtKB/TrEMBL
      F6RBR6
      Related
      ENSMUSP00000119625.3, ENSMUST00000135292.3
      Conserved Domains (1) summary
      pfam05071
      Location:37 → 85
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    2. NM_025551.4 → NP_079827.3  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC138026
      Consensus CDS
      CCDS24132.2
      UniProtKB/Swiss-Prot
      Q3TIA0, Q7TMF3
      UniProtKB/TrEMBL
      Q8BME2, Q9CQ83
      Related
      ENSMUSP00000020209.10, ENSMUST00000020209.16
      Conserved Domains (1) summary
      pfam05071
      Location:37 → 116
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      94034897..94057302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TMF3.2 GenPept UniProtKB/Swiss-Prot:Q7TMF3

    Gene LinkOut

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