NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 4702
• Gene name: NADH:ubiquinone oxidoreductase subunit A8
• Gene symbol: NDUFA8
• Synonyms (NCBI Gene): CI-19KD, CI-PGIV, MC1DN37, PGIV
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering

miRNA Show/Hide all (64)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1178876	hsa-miR-224	CLIP-seq
MIRT1178877	hsa-miR-3691-3p	CLIP-seq
MIRT1178878	hsa-miR-4265	CLIP-seq
MIRT1178879	hsa-miR-4296	CLIP-seq
MIRT1178880	hsa-miR-4322	CLIP-seq
MIRT1178881	hsa-miR-4417	CLIP-seq
MIRT1178882	hsa-miR-4480	CLIP-seq
MIRT1178883	hsa-miR-4520a-3p	CLIP-seq
MIRT1178884	hsa-miR-4640-5p	CLIP-seq
MIRT1178885	hsa-miR-4726-5p	CLIP-seq
MIRT1178886	hsa-miR-522	CLIP-seq
MIRT1178887	hsa-miR-574-5p	CLIP-seq
MIRT1178888	hsa-miR-711	CLIP-seq
MIRT2051750	hsa-miR-129-5p	CLIP-seq
MIRT2051751	hsa-miR-2053	CLIP-seq
MIRT1178876	hsa-miR-224	CLIP-seq
MIRT1178877	hsa-miR-3691-3p	CLIP-seq
MIRT2051752	hsa-miR-409-3p	CLIP-seq
MIRT1178882	hsa-miR-4480	CLIP-seq
MIRT2051753	hsa-miR-569	CLIP-seq
MIRT2051750	hsa-miR-129-5p	CLIP-seq
MIRT2051751	hsa-miR-2053	CLIP-seq
MIRT1178876	hsa-miR-224	CLIP-seq
MIRT2280852	hsa-miR-3133	CLIP-seq
MIRT1178877	hsa-miR-3691-3p	CLIP-seq
MIRT2051752	hsa-miR-409-3p	CLIP-seq
MIRT1178882	hsa-miR-4480	CLIP-seq
MIRT2051753	hsa-miR-569	CLIP-seq
MIRT2280853	hsa-miR-603	CLIP-seq
MIRT2280854	hsa-miR-758	CLIP-seq
MIRT2391465	hsa-miR-1231	CLIP-seq
MIRT2391466	hsa-miR-1268	CLIP-seq
MIRT2391467	hsa-miR-1268b	CLIP-seq
MIRT2391468	hsa-miR-3663-3p	CLIP-seq
MIRT2391469	hsa-miR-4288	CLIP-seq
MIRT2391470	hsa-miR-4303	CLIP-seq
MIRT2391471	hsa-miR-585	CLIP-seq
MIRT2391472	hsa-miR-632	CLIP-seq
MIRT2051750	hsa-miR-129-5p	CLIP-seq
MIRT2051751	hsa-miR-2053	CLIP-seq
MIRT2051752	hsa-miR-409-3p	CLIP-seq
MIRT2051753	hsa-miR-569	CLIP-seq
MIRT2280854	hsa-miR-758	CLIP-seq
MIRT2051750	hsa-miR-129-5p	CLIP-seq
MIRT2051751	hsa-miR-2053	CLIP-seq
MIRT2051752	hsa-miR-409-3p	CLIP-seq
MIRT2051753	hsa-miR-569	CLIP-seq
MIRT2280854	hsa-miR-758	CLIP-seq
MIRT2051750	hsa-miR-129-5p	CLIP-seq
MIRT2051751	hsa-miR-2053	CLIP-seq
MIRT1178876	hsa-miR-224	CLIP-seq
MIRT1178877	hsa-miR-3691-3p	CLIP-seq
MIRT2051752	hsa-miR-409-3p	CLIP-seq
MIRT1178882	hsa-miR-4480	CLIP-seq
MIRT2051753	hsa-miR-569	CLIP-seq
MIRT2280854	hsa-miR-758	CLIP-seq
MIRT2051750	hsa-miR-129-5p	CLIP-seq
MIRT2051751	hsa-miR-2053	CLIP-seq
MIRT1178876	hsa-miR-224	CLIP-seq
MIRT1178877	hsa-miR-3691-3p	CLIP-seq
MIRT2051752	hsa-miR-409-3p	CLIP-seq
MIRT1178882	hsa-miR-4480	CLIP-seq
MIRT2051753	hsa-miR-569	CLIP-seq
MIRT2280854	hsa-miR-758	CLIP-seq

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21310150, 27499296, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	23676665
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	21310150
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	TAS	9860297
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0044877	Function	Protein-containing complex binding	IDA	23209302
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 603359
• HGNC: 7692
• e!Ensembl: ENSG00000119421

Protein

• UniProt ID: P51970
• Protein name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 (Complex I-19kD) (CI-19kD) (Complex I-PGIV) (CI-PGIV) (NADH-ubiquinone oxidoreductase 19 kDa subunit)
• Protein function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371, PubMed:32385911, PubMed:33153867). Complex I functions in the transfer of electr
• PDB: 5XTC , 5XTD , 5XTH , 5XTI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06747	CHCH	78 → 113	CHCH domain	Domain

• Sequence:

  MPGIVELPTLEELKVDEVKISSAVLKAAAHHYGAQCDKPNKEFMLCRWEEKDPRRCLEEG
  KLVNKCALDFFRQIKRHCAEPFTEYWTCIDYTGQQLFRHCRKQQAKFDECVLDKLGWVRP
  DLGELSKVTKVKTDRPLPENPYHSRPRPDPSPEIEGDLQPATHGSRFYFWTK

• Sequence length: 172

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Respiratory electron transport
Metabolic pathways	Complex I biogenesis
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial complex I deficiency, nuclear type 37	Pathogenic; Likely pathogenic	rs767864225, rs1319414797, rs760549929	RCV001374462 RCV001374463 RCV002226921	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
MITOCHONDRIAL DISEASE	—	ClinGen	27626371, 27626380, 32385911, 33153867, 33340416	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	36077333	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	15576045	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	15576045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	15576045	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

NDUFB10 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA11 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA6 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. CYC1 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. UQCRC2 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 6 shared evidence sourcesClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NDUFB10	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA11	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
NDUFA6	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
CYC1	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]
UQCRC2	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	6	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)","Disgenet (Mitochondrial disease)"]

Diseases Linked via Similar Genes

Venous thromboembolism Linked via 1 of 5 related genesUQCRC2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Venous thromboembolism	1	["UQCRC2"]