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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4728
Gene name	NADH:ubiquinone oxidoreductase core subunit S8
Gene symbol	NDUFS8
Synonyms (NCBI Gene)	CI-23kCI23KDMC1DN2TYKY
Chromosome	11
Chromosome location	11q13.2
Summary	This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protei

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033588	G>A	Pathogenic	Missense variant, coding sequence variant
rs143337739	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397514617	C>A	Pathogenic	Missense variant, coding sequence variant
rs750075208	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs863224115	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1267554976	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029672	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003954	Function	NADH dehydrogenase activity	IBA
GO:0003954	Function	NADH dehydrogenase activity	IMP	14749350, 15159508
GO:0005515	Function	Protein binding	IPI	31536960
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9666055
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:0005759	Component	Mitochondrial matrix	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IMP	22499348
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9666055, 9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	9837812
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	22499348
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	11112787, 15159508, 22499348
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 31536960
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	11112787
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602141	7715	ENSG00000110717

O00217

Protein name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (EC 7.1.1.2) (Complex I-23kD) (CI-23kD) (NADH-ubiquinone oxidoreductase 23 kDa subunit) (TYKY subunit)

Protein function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348). Essential for the

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12838	Fer4_7	110 → 164	4Fe-4S dicluster domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues with the highest level in heart and skeletal muscle and the lowest level in lung. {ECO:0000269|PubMed:9666055}.

Sequence

MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLL
WTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAI
CPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEE
LLYNKEKLLNNGDKWEAEIAANIQADYLYR

Sequence length

210

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

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leigh syndrome	Likely pathogenic	rs28939679, rs1267554976	RCV000762861 RCV000578254
Mitochondrial complex I deficiency, nuclear type 2	Likely pathogenic; Pathogenic	rs370053943, rs2495581254, rs28939679, rs121912639, rs758247003, rs2495581454, rs775708906, rs397514617, rs397514618	RCV002468753 RCV002470355 RCV000007941 RCV000007943 RCV003324450 RCV003988300 RCV004595007 RCV000033055 RCV000033056

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mitochondrial complex I deficiency	Uncertain significance	rs369602258, rs886048591, rs544094420	RCV000276295 RCV000365206 RCV000330456
Mitochondrial complex I deficiency, nuclear type 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs4147776, rs150278938, rs748754134, rs372004236, rs886048592, rs201815115, rs373128833, rs149201273, rs369961682, rs1804688, rs373522607, rs199793417, rs764943259, rs3115545, rs578145610 View all (5 more)	RCV001108401 RCV001108403 RCV000344135 RCV000390827 RCV000381321 RCV000293152 RCV000401109 RCV000390917 RCV000260796 RCV000265926 RCV000337029 RCV000314847 RCV000317408 RCV000377576 RCV000321000 RCV001111479 RCV001103233 RCV001103230 RCV001111482 RCV001114884
NDUFS8-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs150278938, rs778113424, rs369961682, rs144125742, rs80240555, rs753246393	RCV003907737 RCV003894454 RCV003950032 RCV003912624 RCV004757230 RCV003902735
See cases	Uncertain significance	rs1854890805	RCV002252520

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	20231622
Carcinoma Hepatocellular	Associate	12079511
Death	Associate	9837812
Leigh Disease	Associate	11004438, 20819849, 34204592, 36675121, 9837812
Leukemia Lymphocytic Chronic B Cell	Associate	12079511
Liver Neoplasms	Associate	12079511
Lung Neoplasms	Associate	27516145
Mitochondrial complex I deficiency	Associate	18435906, 27516145, 34204592
Mitochondrial Diseases	Associate	29288336
Mitochondrial Encephalomyopathies	Associate	34204592
Neoplasms	Associate	27516145

NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)