NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)

2018-02-01  

Identity

HGNC
LOCATION
2q33.3
LOCUSID
ALIAS
CI-75Kd,CI-75k,MC1DN5,PRO1304
FUSION GENES

Other Information

Locus ID:

NCBI: 4719
MIM: 157655
HGNC: 7707
Ensembl: ENSG00000023228

Variants:

dbSNP: 4719
ClinVar: 4719
TCGA: ENSG00000023228
COSMIC: NDUFS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000023228ENST00000233190P28331
ENSG00000023228ENST00000233190E5KRK5
ENSG00000023228ENST00000423725P28331
ENSG00000023228ENST00000432169P28331
ENSG00000023228ENST00000440274P28331
ENSG00000023228ENST00000449699P28331
ENSG00000023228ENST00000449699E5KRK5
ENSG00000023228ENST00000454195C9JPQ5
ENSG00000023228ENST00000455934P28331
ENSG00000023228ENST00000456284F8WDL5
ENSG00000023228ENST00000457011B4DJ81

Expression (GTEx)

0
10
20
30
40
50
60

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
211834872011Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria.52
164787202006Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.41
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
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
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
158242692005Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.18
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
203825512010Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.11

Citation

Dessen P

NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57291/ndufs1