NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1)

2014-11-01  

Identity

HGNC
NDUFV1
LOCATION
11q13.2
LOCUSID
4723
ALIAS
CI-51K,CI51KD,MC1DN4,UQOR1
FUSION GENES
Show Gene Fusions

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
351154842022Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.10
354822462022Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.2
351154842022Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.10
354822462022Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.2
293486072018Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.28
299769782018Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.12
293486072018Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.28
299769782018Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.12
254324402015Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.12
256154192015Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.17
263454482015Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.27
254324402015Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.12
256154192015Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.17
263454482015Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.27
232668202013Leigh 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/haematological-explorer/js/lib/js/web-card-_common.js