NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)

2014-11-01  

Identity

HGNC
NDUFAF3
LOCATION
3p21.31
LOCUSID
25915
ALIAS
2P1,C3orf60,E3-3,MC1DN18
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25915
MIM: 612911
HGNC: 29918
Ensembl: ENSG00000178057

Variants:

dbSNP: 25915
ClinVar: 25915
TCGA: ENSG00000178057
COSMIC: NDUFAF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178057ENST00000326912Q9BU61
ENSG00000178057ENST00000326912A4FU71
ENSG00000178057ENST00000326925Q9BU61
ENSG00000178057ENST00000395458Q9BU61
ENSG00000178057ENST00000395458A4FU71
ENSG00000178057ENST00000451378Q9BU61
ENSG00000178057ENST00000451378A4FU71

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
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
194639812009Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.48
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
93497171997Molecular cloning of a novel alternatively spliced nuclear protein.2
1265325420032P1, a novel male mouse cDNA specifically expressed during meiosis.0

Citation

Dessen P

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70766/ndufaf3