NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5)

2014-11-01  

Identity

HGNC
LOCATION
7q31.32
LOCUSID
ALIAS
B13,CI-13KD-B,CI-13kB,NUFM,UQOR13
FUSION GENES

Other Information

Locus ID:

NCBI: 4698
MIM: 601677
HGNC: 7688
Ensembl: ENSG00000128609

Variants:

dbSNP: 4698
ClinVar: 4698
TCGA: ENSG00000128609
COSMIC: NDUFA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128609ENST00000355749Q16718
ENSG00000128609ENST00000355749A0A024R745
ENSG00000128609ENST00000378795H7BYD0
ENSG00000128609ENST00000466896F8WAS3
ENSG00000128609ENST00000470123C9IZN5
ENSG00000128609ENST00000471770Q16718
ENSG00000128609ENST00000611607A0A087X1G1
ENSG00000128609ENST00000618945A0A087WXR5

Expression (GTEx)

0
10
20
30
40
50
60

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
247177712014Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I.10
208253702011The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.7
208253702011The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.7
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3

Citation

Dessen P

NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70758/ndufa5