NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)

2014-11-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
CI-51K,CI51KD,MC1DN4,UQOR1
FUSION GENES

Other Information

Locus ID:

NCBI: 4723
MIM: 161015
HGNC: 7716
Ensembl: ENSG00000167792

Variants:

dbSNP: 4723
ClinVar: 4723
TCGA: ENSG00000167792
COSMIC: NDUFV1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167792ENST00000322776P49821
ENSG00000167792ENST00000322776E5KNH5
ENSG00000167792ENST00000415352G3V0I5
ENSG00000167792ENST00000527355H0YD04
ENSG00000167792ENST00000528314E9PPD6
ENSG00000167792ENST00000528328E9PPS5
ENSG00000167792ENST00000529867E9PQP1
ENSG00000167792ENST00000529927P49821
ENSG00000167792ENST00000530103E9PPE0
ENSG00000167792ENST00000530638E9PPR0
ENSG00000167792ENST00000532244E9PLC6
ENSG00000167792ENST00000532303B4DE93
ENSG00000167792ENST00000532343E9PJL9
ENSG00000167792ENST00000533075E9PMX3
ENSG00000167792ENST00000533919H0YE81
ENSG00000167792ENST00000647561P49821
ENSG00000167792ENST00000647561E5KNH5

Expression (GTEx)

0
50
100
150
200
250

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
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
177861892007Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.27
201538252010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.21
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
263454482015Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.10
232668202013Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.9
293486072018Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.9
209304272010A NADH dehydrogenase ubiquinone flavoprotein is decreased in patients with dilated cardiomyopathy.7
216963862012A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.7

Citation

Dessen P

NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70787/ndufv1