NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)

2014-11-01  

Identity

HGNC
NDUFA11
LOCATION
19p13.3
LOCUSID
126328
ALIAS
B14.7,CI-B14.7,MC1DN14

Other Information

Locus ID:

NCBI: 126328
MIM: 612638
HGNC: 20371
Ensembl: ENSG00000174886

Variants:

dbSNP: 126328
ClinVar: 126328
TCGA: ENSG00000174886
COSMIC: NDUFA11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174886ENST00000308961Q86Y39
ENSG00000174886ENST00000418389Q86Y39
ENSG00000174886ENST00000592634K7EQ77

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

References

Pubmed IDYearTitleCitations
183062442008Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.41
183062442008Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.41

Citation

Dessen P

NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70753/ndufa11-(nadh-ubiquinone-oxidoreductase-subunit-a11)