NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)

2014-11-01 Affiliation

Identity

HGNC

NDUFA9

LOCATION

12p13.32

LOCUSID

4704

ALIAS

CC6,CI-39k,CI39k,COQ11,MC1DN26,NDUFS2L,SDR22E1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4704
MIM: 603834
HGNC: 7693
Ensembl: ENSG00000139180

Variants:

dbSNP: 4704
ClinVar: 4704
TCGA: ENSG00000139180
COSMIC: NDUFA9

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000139180	ENST00000266544	Q16795
ENSG00000139180	ENST00000535050	F5GY40
ENSG00000139180	ENST00000540688	F5H0J3

Expression (GTEx)

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex	KEGG	hsa_M00146
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex	KEGG	M00146
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105
Complex I biogenesis	REACTOME	R-HSA-6799198

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36939934	2023	Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.	4
36939934	2023	Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.	4
23223238	2013	Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.	32
23223238	2013	Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.	32
22114105	2012	Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.	22
22114105	2012	Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.	22
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
18977241	2008	Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.	28
19064571	2008	Polymorphisms in mitochondrial genes and prostate cancer risk.	22
18977241	2008	Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.	28
19064571	2008	Polymorphisms in mitochondrial genes and prostate cancer risk.	22
17601350	2007	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	33
17601350	2007	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	33
1832859	1991	NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA sequences of the import precursors of the nuclear-encoded 39 kDa and 42 kDa subunits.	8

Citation

Dessen P

NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70763