NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

2016-01-01  

Identity

HGNC
NDUFAF1
LOCATION
15q15.1
LOCUSID
51103
ALIAS
CGI-65,CGI65,CIA30,MC1DN11

Other Information

Locus ID:

NCBI: 51103
MIM: 606934
HGNC: 18828
Ensembl: ENSG00000137806

Variants:

dbSNP: 51103
ClinVar: 51103
TCGA: ENSG00000137806
COSMIC: NDUFAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137806ENST00000260361Q9Y375
ENSG00000137806ENST00000260361A0A024R9L0
ENSG00000137806ENST00000558719H0YNN4
ENSG00000137806ENST00000559127H0YL22
ENSG00000137806ENST00000560978H0YNB7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
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
249637682016Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.5
249637682016Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.5
257141302015Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.14
257141302015Identification of NDUFAF1 in mediating K-Ras induced mitochondrial dysfunction by a proteomic screening approach.14
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
173444202007Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.74
173839182007Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.32
175570762007Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.69
173444202007Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.74
173839182007Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.32
175570762007Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.69
162189612005Human mitochondrial complex I assembly is mediated by NDUFAF1.52

Citation

Dessen P

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/55596/ndufaf1-(nadh-ubiquinone-oxidoreductase-complex-assembly-factor-1)