NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5)

2014-11-01  

Identity

HGNC
NDUFA5
LOCATION
7q31.32
LOCUSID
4698
ALIAS
B13,CI-13KD-B,CI-13kB,NUFM,UQOR13
FUSION GENES
Show Gene Fusions

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
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
parathyroid 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
247177712014Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I.30
247177712014Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I.30
208253702011The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.9
208253702011The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.9
208253702011The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.9
208253702011The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.9
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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.4
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.4
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22

Citation

Dessen P

NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70758/deep-insight-explorer/favicon/favicon-32x32.png