Identity
HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
CI-51K,CI51KD,MC1DN4,UQOR1
FUSION GENES
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: 4723
MIM: 161015
HGNC: 7716
Ensembl: ENSG00000167792
Variants:
dbSNP: 4723
ClinVar: 4723
TCGA: ENSG00000167792
COSMIC: NDUFV1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35115484 | 2022 | Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer. | 10 |
| 35482246 | 2022 | Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency. | 2 |
| 35115484 | 2022 | Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer. | 10 |
| 35482246 | 2022 | Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency. | 2 |
| 29348607 | 2018 | Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. | 28 |
| 29976978 | 2018 | Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. | 12 |
| 29348607 | 2018 | Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. | 28 |
| 29976978 | 2018 | Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. | 12 |
| 25432440 | 2015 | Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. | 12 |
| 25615419 | 2015 | Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. | 17 |
| 26345448 | 2015 | Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. | 27 |
| 25432440 | 2015 | Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. | 12 |
| 25615419 | 2015 | Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. | 17 |
| 26345448 | 2015 | Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. | 27 |
| 23266820 | 2013 | Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. | 14 |
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-(nadh-ubiquinone-oxidoreductase-core-subunit-v1)
