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

    Gene ID: 227197, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 78.5), cerebellum adult (RPKM 29.7) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ndufs1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    contributes_to NADH dehydrogenase (ubiquinone) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables electron transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding 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 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 IEA
    Inferred from Electronic Annotation
    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 mitochondrial respiratory chain complex I assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    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
    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 mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    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 
    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

    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)

    NEW Try the new Transcript table

    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_001160038.1NP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    2. NM_001160039.1NP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    3. NM_001160040.1NP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    4. NM_145518.2NP_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:31723
      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_006495952.4XP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    2. XM_036164427.1XP_036020320.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q3UIQ2
      Conserved Domains (1) summary
      PRK09130
      Location:1580
      PRK09130; NADH dehydrogenase subunit G; Validated
    3. XM_030253694.2XP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    4. XM_036164417.1XP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    5. XM_036164421.1XP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated
    6. XM_036164425.1XP_036020318.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X2

      UniProtKB/TrEMBL
      Q3UIQ2
      Conserved Domains (1) summary
      PRK09130
      Location:1580
      PRK09130; NADH dehydrogenase subunit G; Validated
    7. XM_036164413.1XP_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:31723
      PRK09130; NADH dehydrogenase subunit G; Validated