NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)

2014-11-01  

Identity

HGNC
NDUFS7
LOCATION
19p13.3
LOCUSID
374291
ALIAS
CI-20,CI-20KD,MC1DN3,MY017,PSST
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 374291
MIM: 601825
HGNC: 7714
Ensembl: ENSG00000115286

Variants:

dbSNP: 374291
ClinVar: 374291
TCGA: ENSG00000115286
COSMIC: NDUFS7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115286ENST00000233627O75251
ENSG00000115286ENST00000233627Q7LD69
ENSG00000115286ENST00000313408O75251
ENSG00000115286ENST00000414651F5GXJ1
ENSG00000115286ENST00000534853F5H736
ENSG00000115286ENST00000539480F5H5N1
ENSG00000115286ENST00000546172K7ENU3
ENSG00000115286ENST00000546283O75251
ENSG00000115286ENST00000618074A0A087WTI3
ENSG00000115286ENST00000620479A0A087WXF6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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) Fe-S protein/flavoprotein complex, mitochondriaKEGGhsa_M00143
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondriaKEGGM00143
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
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
272266342016NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.7
172753782007A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.0
176046712007A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.0
184359062008Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.0
229359182013No association between genetic polymorphisms of the NDUFS7 gene and schizophrenia in Han Chinese.0

Citation

Dessen P

NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70785/ndufs7