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    Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 75597, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ndufaf2provided by MGI
    Official Full Name
    NADH:ubiquinone oxidoreductase complex assembly factor 2provided by MGI
    Primary source
    MGI:MGI:1922847
    See related
    Ensembl:ENSMUSG00000068184 AllianceGenome:MGI:1922847
    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
    mimitin; Ndufa12l; 1810058I14Rik
    Summary
    Acts upstream of or within mitochondrial respiratory chain complex I assembly and negative regulation of insulin secretion involved in cellular response to glucose stimulus. Predicted to be located in membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 10. Orthologous to human NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 15.4), CNS E11.5 (RPKM 15.4) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ndufaf2 in Genome Data Viewer
    Location:
    13 D2.1; 13 59.63 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (108189123..108295189, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (108052589..108158652, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41055 Neighboring gene STARR-positive B cell enhancer ABC_E8544 Neighboring gene STARR-seq mESC enhancer starr_35592 Neighboring gene small integral membrane protein 15 Neighboring gene STARR-positive B cell enhancer ABC_E7278 Neighboring gene predicted gene, 52057 Neighboring gene STARR-positive B cell enhancer mm9_chr13:108943188-108943489 Neighboring gene STARR-positive B cell enhancer ABC_E5415 Neighboring gene excision repaiross-complementing rodent repair deficiency, complementation group 8 Neighboring gene STARR-seq mESC enhancer starr_35596 Neighboring gene ELOVL fatty acid elongase 7 Neighboring gene predicted gene, 32376

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. Timsit SG, et al. J Neurochem, 1992 Mar. PMID 1737990
    2. A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. Tsuneoka M, et al. J Biol Chem, 2005 May 20. PMID 15774466
    3. Effects of the novel mitochondrial protein mimitin in insulin-secreting cells. Hanzelka K, et al. Biochem J, 2012 Aug 1. PMID 22587331
    4. The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress. Schlehe JS, et al. Neurobiol Dis, 2013 Oct. PMID 23702311, Free PMC Article
    5. 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

    See all (28) 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.
    2. These data suggest that Ndufaf2, unlike other Complex-1 assembly factors, may be more accurately described as a chaperone involved in proper folding during Complex-1 assembly, since it is dispensable for Complex-1 maturation but not its proper function.
      Title: The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress.
    3. Mimitin overexpression increased basal and glucose-induced insulin secretion and prevented cytokine-mediated suppression of insulin secretion. Mimitin knockdown in MIN6 cells had opposite effects to those observed after overexpression.
      Title: Effects of the novel mitochondrial protein mimitin in insulin-secreting cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    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 protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
    Names
    MMTN
    Myc-induced mitochondria protein
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
    NDUFA12-like protein
    mimitin, mitochondrial
    myc-induced mitochondrial protein

    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_001127346.2 → NP_001120818.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform 1

      See identical proteins and their annotated locations for NP_001120818.1

      Status: VALIDATED

      Source sequence(s)
      AC103379, CT025566
      Consensus CDS
      CCDS49357.1
      UniProtKB/Swiss-Prot
      Q14A56, Q59J78, Q80VX9
      UniProtKB/TrEMBL
      Q3TLI6
      Related
      ENSMUSP00000130532.2, ENSMUST00000163558.3
      Conserved Domains (1) summary
      cl01534
      Location:23 → 94
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    2. NM_001360140.2 → NP_001347069.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC103379, CT025566
      Conserved Domains (1) summary
      cl01534
      Location:23 → 84
      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_000079.7 Reference GRCm39 C57BL/6J

      Range
      108189123..108295189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158205.1 → XP_036014098.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform X1

      UniProtKB/Swiss-Prot
      Q14A56, Q59J78, Q80VX9
      UniProtKB/TrEMBL
      Q3TLI6
      Conserved Domains (1) summary
      cl01534
      Location:23 → 94
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    2. XM_030247443.2 → XP_030103303.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform X3

      UniProtKB/TrEMBL
      A0A286YE33
      Related
      ENSMUSP00000153480.2, ENSMUST00000223734.2
      Conserved Domains (1) summary
      cl01534
      Location:23 → 73
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

    3. XM_030247442.2 → XP_030103302.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 isoform X2

      Conserved Domains (1) summary
      cl01534
      Location:23 → 90
      NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q59J78.1 GenPept UniProtKB/Swiss-Prot:Q59J78

    Gene LinkOut

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

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