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

Gene ID: 4728, updated on 11-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. 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.
  2. 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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. 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
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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

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