NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)

2003-06-01  

Identity

HGNC
LOCATION
Xq24
LOCUSID
ALIAS
CI-MWFE,MC1DN12,MWFE,ZNF183
FUSION GENES

Other Information

Locus ID:

NCBI: 4694
MIM: 300078
HGNC: 7683
Ensembl: ENSG00000125356

Variants:

dbSNP: 4694
ClinVar: 4694
TCGA: ENSG00000125356
COSMIC: NDUFA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125356ENST00000371437O15239
ENSG00000125356ENST00000371437Q6IBB5

Expression (GTEx)

0
100
200
300
400
500
600
700
800

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
150386042004Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.42
191855232009A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.28
172628562007X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.23
237917502013Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.22
201538252010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.21
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
119375072002Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.16
158541272005Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma.6
215966022011Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.4
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

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41516/ndufa1