NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)

2011-12-01  

Identity

HGNC
NDUFS3
LOCATION
11p11.2
LOCUSID
4722
ALIAS
CI-30,MC1DN8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4722
MIM: 603846
HGNC: 7710
Ensembl: ENSG00000213619

Variants:

dbSNP: 4722
ClinVar: 4722
TCGA: ENSG00000213619
COSMIC: NDUFS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213619ENST00000263774O75489
ENSG00000213619ENST00000528192E9PS48
ENSG00000213619ENST00000529276E9PJE7
ENSG00000213619ENST00000530295E9PKL8
ENSG00000213619ENST00000534208G3V194
ENSG00000213619ENST00000534716O75489

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376429542023NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.1
376429542023NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.1
338823092021NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.13
338823092021NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.13
330973952020Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.3
330973952020Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.3
298494922018Downregulation of DJ-1 Fails to Protect Mitochondrial Complex I Subunit NDUFS3 in the Testes and Contributes to the Asthenozoospermia.7
301400602018A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.10
298494922018Downregulation of DJ-1 Fails to Protect Mitochondrial Complex I Subunit NDUFS3 in the Testes and Contributes to the Asthenozoospermia.7
301400602018A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.10
282422972017Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.27
291422572017Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.12
282422972017Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.27
291422572017Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.12
257701682015Altered monocyte expression and expansion of non-classical monocyte subset in IgA nephropathy patients.20

Citation

Dessen P

NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)

Atlas Genet Cytogenet Oncol Haematol. 2011-12-01

Online version: http://atlasgeneticsoncology.org/gene/52504/ndufs3-(nadh-ubiquinone-oxidoreductase-core-subunit-s3)