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

Gene ID: 4702, updated on 11-Apr-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
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Genomic context

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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
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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

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