NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)

2003-06-01  

Identity

HGNC
NDUFA1
LOCATION
Xq24
LOCUSID
4694
ALIAS
CI-MWFE,MC1DN12,MWFE,ZNF183
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
351311372022NDUFA1 p.Gly32Arg variant in early-onset dementia.3
351311372022NDUFA1 p.Gly32Arg variant in early-onset dementia.3
271774952016Altered mitochondrial expression genes in patients receiving right ventricular apical pacing.1
271774952016Altered mitochondrial expression genes in patients receiving right ventricular apical pacing.1
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.25
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.25
237917502013Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.38
237917502013Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.38
215966022011Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.5
215966022011Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.5
201538252010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.31
201538252010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.31
191855232009A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.34
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.4
191855232009A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.34

Citation

Dessen P

NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

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