NDUFS7 (NADH:ubiquinone oxidoreductase core subunit S7)

2014-11-01 Affiliation

Identity

HGNC

NDUFS7

LOCATION

19p13.3

LOCUSID

374291

ALIAS

CI-20,CI-20KD,MC1DN3,MY017,PSST

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000115286	ENST00000233627	O75251
ENSG00000115286	ENST00000233627	Q7LD69
ENSG00000115286	ENST00000313408	O75251
ENSG00000115286	ENST00000414651	F5GXJ1
ENSG00000115286	ENST00000534853	F5H736
ENSG00000115286	ENST00000539480	F5H5N1
ENSG00000115286	ENST00000546172	K7ENU3
ENSG00000115286	ENST00000546283	O75251
ENSG00000115286	ENST00000618074	A0A087WTI3
ENSG00000115286	ENST00000620479	A0A087WXF6

Expression (GTEx)

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria	KEGG	hsa_M00143
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria	KEGG	M00143
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105
Complex I biogenesis	REACTOME	R-HSA-6799198

References

Pubmed ID	Year	Title	Citations
38823363	2024	SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells.	0
38823363	2024	SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells.	0
27226634	2016	NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.	20
27226634	2016	NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.	20
22935918	2013	No association between genetic polymorphisms of the NDUFS7 gene and schizophrenia in Han Chinese.	3
22935918	2013	No association between genetic polymorphisms of the NDUFS7 gene and schizophrenia in Han Chinese.	3
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
18435906	2008	Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.	18
18977241	2008	Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.	28
18435906	2008	Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.	18
18977241	2008	Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.	28
17275378	2007	A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.	16
17601350	2007	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	33
17604671	2007	A 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.	11

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