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    NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 [ Homo sapiens (human) ]

    Gene ID: 4702, updated on 5-May-2024

    Summary

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    Official Symbol
    NDUFA8provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit A8provided by HGNC
    Primary source
    HGNC:HGNC:7692
    See related
    Ensembl:ENSG00000119421 MIM:603359; AllianceGenome:HGNC:7692
    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
    PGIV; CI-19KD; CI-PGIV; MC1DN37
    Summary
    The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in heart (RPKM 64.4), testis (RPKM 25.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFA8 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (122132466..122159779, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (134329934..134357249, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124894745..124922058, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124887422-124888188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124888189-124888954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124888955-124889721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124889722-124890487 Neighboring gene microRNA 4478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124896063-124896602 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124896718-124897622 Neighboring gene Sharpr-MPRA regulatory region 3979 Neighboring gene MORN repeat containing 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:124962138-124962350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20240 Neighboring gene LIM homeobox 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124988963-124989468

    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. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. Tort F, et al. Mol Genet Metab, 2020 Nov. PMID 33153867
    2. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Yatsuka Y, et al. Clin Genet, 2020 Aug. PMID 32385911
    3. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients. Triepels R, et al. Hum Genet, 1998 Nov. PMID 9860297
    4. Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I. Smeitink J, et al. Hum Genet, 1998 Aug. PMID 9760212
    5. Renal cell carcinoma and normal kidney protein expression. Sarto C, et al. Electrophoresis, 1997 Mar-Apr. PMID 9150947

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes mitochondrial respiration to support proliferation and inhibit apoptosis in cervical cancer.
      Title: NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes mitochondrial respiration to support proliferation and inhibit apoptosis in cervical cancer.
    2. Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
      Title: Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.
    3. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
      Title: A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
    4. Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
      Title: Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
    5. Intra-molecular disulfide bridges and the inter-membrane space localization of three Cx(9)C-containing subunits in human: NDUFS5, NDUFB7 and NDUFA8, are proposed.
      Title: NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.
    6. This subunit of complex I is localized in the mitochondrial inter-membrane space. The protein contains intra-molecular disulfide bridges in the twin Cx(9)C motif.
      Title: NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.
    7. 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.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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 37
    MedGen: C5543281 OMIM: 619272 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    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

    Clone Names

    • MGC793

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 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 inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 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] 1 alpha subcomplex subunit 8
    Names
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa
    NADH-ubiquinone oxidoreductase 19 kDa subunit
    NADH:ubiquinone oxidoreductase PGIV subunit
    complex I-19kD
    complex I-PGIV
    NP_001305124.1
    NP_055037.1

    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_042279.2 RefSeqGene

      Range
      5041..20762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318195.2 → NP_001305124.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK301520, AL162423
      UniProtKB/TrEMBL
      B7Z768
      Conserved Domains (1) summary
      pfam06747
      Location:78 → 111
      CHCH; CHCH domain

    2. NM_014222.3 → NP_055037.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 1

      See identical proteins and their annotated locations for NP_055037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK314135, BC001016
      Consensus CDS
      CCDS6835.1
      UniProtKB/Swiss-Prot
      B1AM93, P51970, Q9Y6N0
      Related
      ENSP00000362873.3, ENST00000373768.4
      Conserved Domains (1) summary
      pfam06747
      Location:78 → 111
      CHCH; CHCH domain

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      122132466..122159779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      134329934..134357249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51970.3 GenPept UniProtKB/Swiss-Prot:P51970

    Gene LinkOut

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

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