Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4702
Gene name	NADH:ubiquinone oxidoreductase subunit A8
Gene symbol	NDUFA8
Synonyms (NCBI Gene)	CI-19KDCI-PGIVMC1DN37PGIV
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

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miRTarBase ID	miRNA	Experiments
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

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

MIM	HGNC	e!Ensembl
603359	7692	ENSG00000119421

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

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways 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		Respiratory electron transport Complex I biogenesis

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)

Show/Hide Causal Diseases (1)

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

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
MITOCHONDRIAL DISEASE	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)