NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)

2014-11-01  

Identity

HGNC
LOCATION
9q33.2
LOCUSID
ALIAS
CI-19KD,CI-PGIV,MC1DN37,PGIV
FUSION GENES

Other Information

Locus ID:

NCBI: 4702
MIM: 603359
HGNC: 7692
Ensembl: ENSG00000119421

Variants:

dbSNP: 4702
ClinVar: 4702
TCGA: ENSG00000119421
COSMIC: NDUFA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119421ENST00000373768P51970

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
NADH dehydrogenase (ubiquinone) 1 alpha subcomplexKEGGhsa_M00146
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) 1 alpha subcomplexKEGGM00146
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380966162024NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes mitochondrial respiration to support proliferation and inhibit apoptosis in cervical cancer.1
380966162024NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes mitochondrial respiration to support proliferation and inhibit apoptosis in cervical cancer.1
358770192023Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.0
358770192023Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis.0
323859112020A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.11
331538672020Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.3
323859112020A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.11
331538672020Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.3
213101502011NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.21
213101502011NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.21
213101502011NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.21
213101502011NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I.21
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70762/ndufa8-(nadh-ubiquinone-oxidoreductase-subunit-a8)