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Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 [ Mus musculus (house mouse) ]

Gene ID: 227197, updated on 5-Mar-2024

Summary

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Official Symbol
Ndufs1provided by MGI
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S1provided by MGI
Primary source
MGI:MGI:2443241
See related
Ensembl:ENSMUSG00000025968 AllianceGenome:MGI:2443241
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
5830412M15Rik; 9930026A05Rik
Summary
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in inherited metabolic disorder; mitochondrial complex I deficiency; and nuclear type mitochondrial complex I deficiency 5. Orthologous to human NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 78.5), cerebellum adult (RPKM 29.7) and 22 other tissues See more
Orthologs
human all
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Genomic context

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Location:
1 C2; 1 32.29 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (63182751..63215981, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (63143592..63176822, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 24942 Neighboring gene INO80 complex subunit D Neighboring gene ribosomal protein S27, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E2545 Neighboring gene STARR-seq mESC enhancer starr_01125 Neighboring gene INO80 complex subunit D, opposite strand Neighboring gene STARR-seq mESC enhancer starr_01129 Neighboring gene STARR-positive B cell enhancer ABC_E1994 Neighboring gene predicted gene, 26457 Neighboring gene small nucleolar RNA, H/ACA box 41 Neighboring gene eukaryotic translation elongation factor 1 beta 2

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. Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis. Qi B, et al. Exp Mol Med, 2022 Jul. PMID 35817848, Free PMC Article
  2. Ndufs1 Deficiency Aggravates the Mitochondrial Membrane Potential Dysfunction in Pressure Overload-Induced Myocardial Hypertrophy. Zou R, et al. Oxid Med Cell Longev, 2021. PMID 33763166, Free PMC Article
  3. Complex I assembly into supercomplexes determines differential mitochondrial ROS production in neurons and astrocytes. Lopez-Fabuel I, et al. Proc Natl Acad Sci U S A, 2016 Nov 15. PMID 27799543, Free PMC Article
  4. Conformational change of mitochondrial complex I increases ROS sensitivity during ischemia. Gorenkova N, et al. Antioxid Redox Signal, 2013 Nov 1. PMID 23419200, Free PMC Article
  5. Age-related alterations in oxidatively damaged proteins of mouse skeletal muscle mitochondrial electron transport chain complexes. Choksi KB, et al. Free Radic Biol Med, 2008 Sep 15. PMID 18598756, Free PMC Article

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis.
    Title: Cardiac-specific overexpression of Ndufs1 ameliorates cardiac dysfunction after myocardial infarction by alleviating mitochondrial dysfunction and apoptosis.
  2. Ndufs1 Deficiency Aggravates the Mitochondrial Membrane Potential Dysfunction in Pressure Overload-Induced Myocardial Hypertrophy.
    Title: Ndufs1 Deficiency Aggravates the Mitochondrial Membrane Potential Dysfunction in Pressure Overload-Induced Myocardial Hypertrophy.
  3. The transition of mitochondrial complex I into the D-form in the absence of oxygen may represent a key event in promoting cardiac injury during I/R.
    Title: Conformational change of mitochondrial complex I increases ROS sensitivity during ischemia.
  4. lysosomal membrane permeability induced by TNFalpha plus cycloheximide, the release of lysosomal cathepsins and reactive oxygen species formation require the caspase-3-mediated cleavage of the p75 NDUFS1 subunit of respiratory complex I.
    Title: TNFα-induced lysosomal membrane permeability is downstream of MOMP and triggered by caspase-mediated NDUFS1 cleavage and ROS formation.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2) 
  • Endonuclease-mediated (3) 

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

  • MGC7850, MGC19199

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to NADH dehydrogenase (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
contributes_to NADH dehydrogenase (ubiquinone) activity ISO
Inferred from Sequence Orthology
more info
  
enables NADH dehydrogenase (ubiquinone) activity ISO
Inferred from Sequence Orthology
more info
  
enables electron transfer activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on NAD(P)H IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ATP metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in ATP synthesis coupled electron transport IEA
Inferred from Electronic Annotation
more info
  
involved_in aerobic respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in apoptotic mitochondrial changes ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular respiration ISO
Inferred from Sequence Orthology
more info
  
involved_in mitochondrial electron transport, NADH to ubiquinone ISO
Inferred from Sequence Orthology
more info
  
involved_in mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in 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
  
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in reactive oxygen species metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of mitochondrial membrane potential ISO
Inferred from Sequence Orthology
more info
  
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
  
located_in mitochondrial intermembrane space ISO
Inferred from Sequence Orthology
more info
  
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 mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in myelin sheath HDA PubMed 
located_in respirasome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Names
CI-75kD
NADH dehydrogenase (ubiquinone) Fe-S protein 1
complex I-75kD
NP_001153510.1
NP_001153511.1
NP_001153512.1
NP_663493.2
XP_006496015.1
XP_030109554.1
XP_036020306.1
XP_036020310.1
XP_036020314.1
XP_036020318.1
XP_036020320.1

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_001160038.1 → NP_001153510.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001153510.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
    Source sequence(s)
    AK036926, AV444601, BU708393, BY709888
    Consensus CDS
    CCDS14996.1
    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  2. NM_001160039.1 → NP_001153511.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001153511.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AK036926, AV444601, BY709888, CN715066
    Consensus CDS
    CCDS14996.1
    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  3. NM_001160040.1 → NP_001153512.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001153512.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AK036926, AV444601, BG808119, BY709888
    Consensus CDS
    CCDS14996.1
    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Related
    ENSMUSP00000126621.3, ENSMUST00000168099.9
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  4. NM_145518.2 → NP_663493.2  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor

    See identical proteins and their annotated locations for NP_663493.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
    Source sequence(s)
    AK036926, AV444601, BY709888
    Consensus CDS
    CCDS14996.1
    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Related
    ENSMUSP00000027111.9, ENSMUST00000027111.15
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

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_000067.7 Reference GRCm39 C57BL/6J

    Range
    63182751..63215981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006495952.4 → XP_006496015.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006496015.1

    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  2. XM_036164427.1 → XP_036020320.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:1 → 580
    PRK09130; NADH dehydrogenase subunit G; Validated

  3. XM_030253694.2 → XP_030109554.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  4. XM_036164417.1 → XP_036020310.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  5. XM_036164421.1 → XP_036020314.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated

  6. XM_036164425.1 → XP_036020318.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:1 → 580
    PRK09130; NADH dehydrogenase subunit G; Validated

  7. XM_036164413.1 → XP_036020306.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3UQ73, Q8BM16, Q91VD9
    UniProtKB/TrEMBL
    Q3TIU7, Q3UIQ2
    Conserved Domains (1) summary
    PRK09130
    Location:31 → 723
    PRK09130; NADH dehydrogenase subunit G; Validated
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91VD9.2 GenPept UniProtKB/Swiss-Prot:Q91VD9

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