• Gene id: 4728

Gene Summary

• Gene Symbol: NDUFS8   Gene   UCSC   Ensembl
• Aliases: CI-23k, CI23KD, MC1DN2, TYKY
• Gene name: NADH:ubiquinone oxidoreductase core subunit S8
• Alternate names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase), NADH-ubiquinone oxidoreductase 23 kDa subunit, complex I 23kDa subunit, complex I-23kD,
• Gene location: 11q13.2 (68030680: 68036643)     Exons: 7     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 602366

Protein Summary

• Protein general information: O00217  
  • Name: NADH dehydrogenase [ubiquinone] iron sulfur protein 8, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I 23kD) (CI 23kD) (NADH ubiquinone oxidoreductase 23 kDa subunit) (TYKY subunit)
  • Length: 210  
  • Mass: 23705
• Sequence:

  MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLLWTELFRGLGMTLSYL
  FREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAICPAQAITIEAEPRADGSRRTTRYDIDMTKC
  IYCGFCQEACPVDAIVEGPNFEFSTETHEELLYNKEKLLNNGDKWEAEIAANIQADYLYR

• Structural information:
  • Protein Domains: (102..13-)
    1 (/note="4Fe-4S-ferredoxin-type)
    (141..17-)
    2" (/note="4Fe-4S-ferredoxin-type)
  • Interpro: IPR017896  IPR017900  IPR010226  
  • Prosite: PS00198 PS51379
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000315774
• Other Databases: GeneCards:  NDUFS8  Malacards:  NDUFS8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009060	aerobic respiration	IBA	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IBA	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0003954	NADH dehydrogenase activity	IBA	contributes to
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0070469	respirasome	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006979	response to oxidative stress	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	contributes to
GO:0003954	NADH dehydrogenase activity	IMP	contributes to
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0003954	NADH dehydrogenase activity	IMP	contributes to
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Mitochondrial complex I deficiency	KEGG:H00473
Leigh syndrome	KEGG:H01354
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility, Embryo quality	MIK: 26361204

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray