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

    Gene ID: 4728, updated on 30-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:7715
    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

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    See NDUFS8 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (68030681..68036644)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (68034333..68040285)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67798148..67804111)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67758703-67759308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67764416-67765090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67765091-67765764 Neighboring gene unc-93 homolog B1, TLR signaling regulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67771524-67772067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67772068-67772610 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67777316-67778144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67781777-67782671 Neighboring gene aldehyde dehydrogenase 3 family member B1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67794214-67795079 Neighboring gene Sharpr-MPRA regulatory region 3798 Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67805851-67806472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3657 Neighboring gene microRNA 7113 Neighboring gene microRNA 4691 Neighboring gene T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67817396-67818388 Neighboring gene microRNA 6753 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67834020-67834520 Neighboring gene choline kinase alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67850572-67850749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67861600-67861729 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67870988-67871188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67886638-67887154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3658 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67888828-67889593

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Haack TB, et al. J Med Genet, 2012 Apr. PMID 22499348
    2. YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit. Lescuyer P, et al. Biochim Biophys Acta, 2002 Mar 19. PMID 11955626
    3. cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. Procaccio V, et al. Biochim Biophys Acta, 1997 Mar 20. PMID 9116042
    4. The opposite prognostic effect of NDUFS1 and NDUFS8 in lung cancer reflects the oncojanus role of mitochondrial complex I. Su CY, et al. Sci Rep, 2016 Aug 12. PMID 27516145, Free PMC Article
    5. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Procaccio V, et al. Neurology, 2004 May 25. PMID 15159508, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The requirement of the mitochondrial protein NDUFS8 for angiogenesis.
      Title: The requirement of the mitochondrial protein NDUFS8 for angiogenesis.
    2. Results show that NDUFS8 protein and mRNA levels are up-regulated in lung neoplasm and correlate with poor overall survival.
      Title: The opposite prognostic effect of NDUFS1 and NDUFS8 in lung cancer reflects the oncojanus role of mitochondrial complex I.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. 2 new mutations (P85L upstream from the 2 cysteine motifs that coordinate the two [4Fe-4S] clusters which generate the complex I N2 clusters, & R138H between them)suggest that this subunit is essential for either the assembly or stability of complex I.
      Title: Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 2
    MedGen: C4748737 OMIM: 618222 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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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

    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
    		  
    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 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    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 IPI
    Inferred from Physical Interaction
    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

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    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)

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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.

    Genomic

    1. NG_017040.2 RefSeqGene

      Range
      5002..10965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002496.4 → NP_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
      B2RB86, O00217, Q0VDA8
      UniProtKB/TrEMBL
      Q53G17
      Related
      ENSP00000315774.5, ENST00000313468.10
      Conserved Domains (1) summary
      PRK05888
      Location:54 → 210
      PRK05888; NADH dehydrogenase subunit I; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      68034333..68040285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00217.1 GenPept UniProtKB/Swiss-Prot:O00217

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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