NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)

2009-03-01  

Identity

HGNC
NDUFAF4
LOCATION
6q16.1
LOCUSID
29078
ALIAS
C6orf66,HRPAP20,HSPC125,MC1DN15,My013,bA22L21.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29078
MIM: 611776
HGNC: 21034
Ensembl: ENSG00000123545

Variants:

dbSNP: 29078
ClinVar: 29078
TCGA: ENSG00000123545
COSMIC: NDUFAF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123545ENST00000316149Q9P032

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
377873842024A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding.0
377873842024A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding.0
329497902020Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.1
329497902020Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.1
288537232017NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.13
288537232017NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.13
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
193523852009Lack of complex I is associated with oncocytic thyroid tumours.27
194639812009Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.58
193523852009Lack of complex I is associated with oncocytic thyroid tumours.27
194639812009Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.58
181798822008C6ORF66 is an assembly factor of mitochondrial complex I.55
181798822008C6ORF66 is an assembly factor of mitochondrial complex I.55
170013192007HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion.9

Citation

Dessen P

NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50807/ndufaf4-(nadh-ubiquinone-oxidoreductase-complex-assembly-factor-4)