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    Ndufs6 NADH:ubiquinone oxidoreductase core subunit S6 [ Mus musculus (house mouse) ]

    Gene ID: 407785, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ndufs6provided by MGI
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit S6provided by MGI
    Primary source
    MGI:MGI:107932
    See related
    Ensembl:ENSMUSG00000021606 AllianceGenome:MGI:107932
    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
    IP13
    Summary
    Acts upstream of or within several processes, including DNA damage response, signal transduction by p53 class mediator; mesenchymal stem cell proliferation; and mitochondrial respiratory chain complex I assembly. Part of respiratory chain complex I. Is active in mitochondrion. Is expressed in limb; respiratory system; and skeleton. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in cervical cancer and nuclear type mitochondrial complex I deficiency 9. Orthologous to human NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 124.2), placenta adult (RPKM 69.8) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ndufs6 in Genome Data Viewer
    Location:
    13 C1; 13 39.69 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (73467995..73476574, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (73319876..73328482, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene Iroquois homeobox 4 Neighboring gene VISTA enhancer mm68 Neighboring gene 40S ribosomal protein S28 pseudogene Neighboring gene STARR-seq mESC enhancer starr_34990 Neighboring gene mitochondrial ribosomal protein L36 Neighboring gene STARR-seq mESC enhancer starr_34991 Neighboring gene ephemeron, early developmental lncRNA

    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. Genomic sequence, structural organization and evolutionary conservation of the 13.2-kDa subunit of rat NADH:ubiquinone oxidoreductase. Watson JD, et al. Gene, 1995 Jun 9. PMID 7607554
    2. Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6. Zhang Y, et al. Cell Death Dis, 2020 Dec 15. PMID 33323934, Free PMC Article
    3. Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease. Forbes JM, et al. Antioxid Redox Signal, 2013 Aug 1. PMID 23320803
    4. Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. Ke BX, et al. Proc Natl Acad Sci U S A, 2012 Apr 17. PMID 22474353, Free PMC Article
    5. CTCF counter-regulates cardiomyocyte development and maturation programs in the embryonic heart. Gomez-Velazquez M, et al. PLoS Genet, 2017 Aug. PMID 28846746, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
      Title: Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
    2. The studies identify for the first time that complex I deficiency as the result of interruption of Ndufs6 is an independent cause of renal impairment.
      Title: Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease.
    3. Data show that Ndufs6(gt/gt) mice are born healthy, attain normal weight and maturity, and are fertile, however, after 4 mo in males and 8 mo in females, Ndufs6(gt/gt) mice are at increased risk of cardiac failure and death.
      Title: Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    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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    Homology

    Clone Names

    • MGC107676

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within cell growth IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular senescence IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within circulatory system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within fatty acid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mesenchymal stem cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within mesenchymal stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mesenchymal stem cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within mesenchymal stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within reactive oxygen species metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of mitochondrial membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within reproductive system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within respiratory electron transport chain IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within stem cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within stem cell division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in intracellular anatomical structure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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] iron-sulfur protein 6, mitochondrial
    Names
    CI-13kD-A
    NADH dehydrogenase (ubiquinone) Fe-S protein 6
    NADH dehydrogenase Fe-S protein 6
    NADH-ubiquinone oxidoreductase 13 kDa-A subunit
    complex I-13kD-A
    NP_001410642.1
    NP_001410643.1
    NP_001410644.1
    NP_001410645.1
    NP_001410646.1
    NP_035018.1

    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_001423713.1 → NP_001410642.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154266

    2. NM_001423714.1 → NP_001410643.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154266

    3. NM_001423715.1 → NP_001410644.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154266

    4. NM_001423716.1 → NP_001410645.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154266

    5. NM_001423717.1 → NP_001410646.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC154266

    6. NM_010888.3 → NP_035018.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_035018.1

      Status: VALIDATED

      Source sequence(s)
      AC154266
      Consensus CDS
      CCDS26630.1
      UniProtKB/Swiss-Prot
      P52503, Q5M9J7
      UniProtKB/TrEMBL
      A0A1Y7VM38
      Related
      ENSMUSP00000022097.6, ENSMUST00000022097.6
      Conserved Domains (1) summary
      pfam10276
      Location:75 → 111
      zf-CHCC; Zinc-finger domain

    RNA

    1. NR_033306.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154266
      Related
      ENSMUST00000147407.2

    2. NR_187109.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154266

    3. NR_187110.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154266

    4. NR_187112.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154266

    5. NR_187113.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154266

    6. NR_187114.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC154266

    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
      73467995..73476574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52503.2 GenPept UniProtKB/Swiss-Prot:P52503

    Gene LinkOut

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

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