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    NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 [ Homo sapiens (human) ]

    Gene ID: 4719, updated on 9-Jul-2021

    Summary

    Official Symbol
    NDUFS1provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit S1provided by HGNC
    Primary source
    HGNC:HGNC:7707
    See related
    Ensembl:ENSG00000023228 MIM:157655
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CI-75k; MC1DN5; CI-75Kd; PRO1304
    Summary
    The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in heart (RPKM 52.2), kidney (RPKM 30.3) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NDUFS1 in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (206114817..206159444, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (206979541..207024168, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene INO80 complex subunit D Neighboring gene ribosomal protein L27 pseudogene 8 Neighboring gene uncharacterized LOC105373848 Neighboring gene glycine cleavage system protein H pseudogene 3 Neighboring gene small nucleolar RNA, C/D box 51 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: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC26839

    Gene Ontology Provided by GOA

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables electron transfer activity NAS
    Non-traceable Author Statement
    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 

    General protein information

    Preferred Names
    NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
    complex I 75kDa subunit
    complex I, mitochondrial respiratory chain, 75-kD subunit
    mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit
    NP_001186910.1
    NP_001186911.1
    NP_001186912.1
    NP_001186913.1
    NP_004997.4

    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.

    Genomic

    1. NG_009248.1 RefSeqGene

      Range
      4945..41385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199981.2NP_001186910.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA150435, AC007383, AK295705, AW074155, BC018900, CA419316, DC413278
      Consensus CDS
      CCDS56164.1
      UniProtKB/Swiss-Prot
      P28331
      Related
      ENSP00000409766.1, ENST00000440274.5
      Conserved Domains (4) summary
      smart00929
      Location:77117
      NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
      PRK09130
      Location:31687
      PRK09130; NADH dehydrogenase subunit G; Validated
      cd02773
      Location:213594
      MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
      pfam09326
      Location:642674
      NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
    2. NM_001199982.2NP_001186911.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001186911.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding segment compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA150435, AC007383, AK298320, AW074155, BC018900, CA419316, DC413278
      Consensus CDS
      CCDS56163.1
      UniProtKB/Swiss-Prot
      P28331
      Related
      ENSP00000409689.1, ENST00000432169.5
      Conserved Domains (3) summary
      smart00929
      Location:342
      NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
      cd02773
      Location:138519
      MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
      pfam09326
      Location:567599
      NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
    3. NM_001199983.2NP_001186912.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 4

      See identical proteins and their annotated locations for NP_001186912.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA150435, AC007383, AK300585, AW074155, BC018900, CA419316, DC413278
      Consensus CDS
      CCDS56162.1
      UniProtKB/Swiss-Prot
      P28331
      Related
      ENSP00000397760.1, ENST00000423725.5
      Conserved Domains (5) summary
      smart00929
      Location:5696
      NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
      PRK09130
      Location:2666
      PRK09130; NADH dehydrogenase subunit G; Validated
      cd02773
      Location:192573
      MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
      pfam09326
      Location:621653
      NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
      cl00159
      Location:350
      fer2; 2Fe-2S iron-sulfur cluster binding domain. Iron-sulfur proteins play an important role in electron transfer processes and in various enzymatic reactions. The family includes plant and algal ferredoxins, which act as electron carriers in photosynthesis ...
    4. NM_001199984.2NP_001186913.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 5

      See identical proteins and their annotated locations for NP_001186913.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA150435, AC007383, AK295987, AW074155, BC018900, CA419316
      Consensus CDS
      CCDS56165.1
      UniProtKB/Swiss-Prot
      P28331
      Related
      ENSP00000392709.2, ENST00000455934.6
      Conserved Domains (5) summary
      smart00929
      Location:127167
      NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
      PRK09130
      Location:45737
      PRK09130; NADH dehydrogenase subunit G; Validated
      cd02773
      Location:263644
      MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
      pfam09326
      Location:692724
      NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
      pfam13510
      Location:43121
      Fer2_4; 2Fe-2S iron-sulfur cluster binding domain
    5. NM_005006.7NP_004997.4  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_004997.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest and predominant transcript. Variant 1 encodes isoform 1.
      Source sequence(s)
      AA150435, AC007383, AW074155, BC018900, CA419316, DC413278
      Consensus CDS
      CCDS2366.1
      UniProtKB/Swiss-Prot
      P28331
      UniProtKB/TrEMBL
      E5KRK5
      Related
      ENSP00000233190.5, ENST00000233190.11
      Conserved Domains (1) summary
      PRK09130
      Location:31723
      PRK09130; NADH dehydrogenase subunit G; Validated

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      206114817..206159444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_015495299.1 Reference GRCh38.p13 PATCHES

      Range
      223835..268462 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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