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

Gene ID: 407785, updated on 21-Apr-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 mitochondrion organization; multicellular organism aging; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial respiratory chain complex I. 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, Apr 2022]
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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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. 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
  2. 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
  3. 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
  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 (29) 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)
  • Gene trapped (1) 
  • Endonuclease-mediated (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
involved_in aerobic respiration NAS
Non-traceable Author Statement
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 kidney development 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
  
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 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 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
part_of mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial respiratory chain complex I 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 respirasome IEA
Inferred from Electronic Annotation
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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