NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)

2014-11-01  

Identity

HGNC
NDUFAF5
LOCATION
20p12.1
LOCUSID
79133
ALIAS
C20orf7,MC1DN16,bA526K24.2,dJ842G6.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79133
MIM: 612360
HGNC: 15899
Ensembl: ENSG00000101247

Variants:

dbSNP: 79133
ClinVar: 79133
TCGA: ENSG00000101247
COSMIC: NDUFAF5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101247ENST00000378081B3KR61
ENSG00000101247ENST00000378106Q5TEU4
ENSG00000101247ENST00000463598Q5TEU4

Expression (GTEx)

0
5
10
15
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
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
189403092008Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.59
195420792010Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.17
216077602012Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.13
272266342016NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.7
304734812019Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.3

Citation

Dessen P

NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70768/ndufaf5