NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)

2014-08-01  

Identity

HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
CI-13kA,CI-13kD-A,CI13KDA,MC1DN9
FUSION GENES

Other Information

Locus ID:

NCBI: 4726
MIM: 603848
HGNC: 7713
Ensembl: ENSG00000145494

Variants:

dbSNP: 4726
ClinVar: 4726
TCGA: ENSG00000145494
COSMIC: NDUFS6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145494ENST00000274137O75380
ENSG00000145494ENST00000274137Q6IBC4
ENSG00000145494ENST00000469176D6RBT3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

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
375586632023PRMT1 methylation of WTAP promotes multiple myeloma tumorigenesis by activating oxidative phosphorylation via m6A modification of NDUFS6.5
375586632023PRMT1 methylation of WTAP promotes multiple myeloma tumorigenesis by activating oxidative phosphorylation via m6A modification of NDUFS6.5
330973952020Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.3
333239342020Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.28
330973952020Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.3
333239342020Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.28
254702922014CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells.15
254702922014CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells.15
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
190343802009Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.50
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.4
190343802009Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.50
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.4
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.28

Citation

Dessen P

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54496/ndufs6-(nadh-ubiquinone-oxidoreductase-subunit-s6)