NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)

2012-08-01  

Identity

HGNC
NDUFS4
LOCATION
5q11.2
LOCUSID
4724
ALIAS
AQDQ,CI-18,CI-18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4724
MIM: 602694
HGNC: 7711
Ensembl: ENSG00000164258

Variants:

dbSNP: 4724
ClinVar: 4724
TCGA: ENSG00000164258
COSMIC: NDUFS4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164258ENST00000296684O43181
ENSG00000164258ENST00000296684A0A0S2Z433
ENSG00000164258ENST00000502423D6R916
ENSG00000164258ENST00000506765H0Y9M8
ENSG00000164258ENST00000506974D6RI09
ENSG00000164258ENST00000507026D6REP1

Expression (GTEx)

0
50
100
150
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
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
174381272007Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.76
164787202006Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.41
129443882003Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.30
176013502007A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.27
182916242008cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I.21
189772412008Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.20
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
219453192012Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
193646672009NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.16

Citation

Dessen P

NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52822/ndufs4