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    NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 [ Homo sapiens (human) ]

    Gene ID: 4728, updated on 8-Jul-2021

    Summary

    Official Symbol
    NDUFS8provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase core subunit S8provided by HGNC
    Primary source
    HGNC:HGNC:7715
    See related
    Ensembl:ENSG00000110717 MIM:602141
    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
    TYKY; CI-23k; CI23KD; MC1DN2
    Summary
    This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in heart (RPKM 31.6), adrenal (RPKM 30.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NDUFS8 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68030681..68036644)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67798148..67804111)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene unc-93 homolog B1, TLR signaling regulator Neighboring gene aldehyde dehydrogenase 3 family member B1 Neighboring gene Sharpr-MPRA regulatory region 3798 Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene microRNA 7113 Neighboring gene microRNA 4691 Neighboring gene T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Neighboring gene microRNA 6753 Neighboring gene choline kinase alpha

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with NADH dehydrogenase (ubiquinone) Fe-S protein 8 (NDUFS8) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    contributes_to NADH dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to NADH dehydrogenase 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 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
    NADH-ubiquinone oxidoreductase 23 kDa subunit
    complex I 23kDa subunit
    complex I-23kD
    NP_002487.1

    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.

    Genomic

    1. NG_017040.1 RefSeqGene

      Range
      5065..11028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002496.4NP_002487.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor

      See identical proteins and their annotated locations for NP_002487.1

      Status: REVIEWED

      Source sequence(s)
      AP002807, U65579
      Consensus CDS
      CCDS8176.1
      UniProtKB/Swiss-Prot
      O00217
      Related
      ENSP00000315774.5, ENST00000313468.10
      Conserved Domains (1) summary
      PRK05888
      Location:54210
      PRK05888; NADH dehydrogenase subunit I; Provisional

    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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      68030681..68036644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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