• Gene id: 374291

Gene Summary

• Gene Symbol: NDUFS7   Gene   UCSC   Ensembl
• Aliases: CI-20, CI-20KD, MC1DN3, MY017, PSST
• Gene name: NADH:ubiquinone oxidoreductase core subunit S7
• Alternate names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase), NADH-coenzyme Q reductase, NADH-ubiquinone oxidoreductase 20 kDa subunit, NADH:ubiquinone oxidoreductase P,
• Gene location: 19p13.3 (1383903: 1395583)     Exons: 8     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This
• OMIM: 603287

Protein Summary

• Protein general information: O75251  
  • Name: NADH dehydrogenase [ubiquinone] iron sulfur protein 7, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I 20kD) (CI 20kD) (NADH ubiquinone oxidoreductase 20 kDa subunit) (PSST subunit)
  • Length: 213  
  • Mass: 23564
• Sequence:

  MAVLSAPGLRGFRILGLRSSVGPAVQARGVHQSVATDGPSSTQPALPKARAVAPKPSSRGEYVVAKLDDLVNWAR
  RSSLWPMTFGLACCAVEMMHMAAPRYDMDRFGVVFRASPRQSDVMIVAGTLTNKMAPALRKVYDQMPEPRYVVSM
  GSCANGGGYYHYSYSVVRGCDRIVPVDIYIPGCPPTAEALLYGILQLQRKIKRERRLQIWYRR

• Structural information:
  • Interpro: IPR006137  IPR006138  
  • Prosite: PS01150
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000233627
• Other Databases: GeneCards:  NDUFS7  Malacards:  NDUFS7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009060	aerobic respiration	IBA	biological process
GO:0015990	electron transport coupled proton transport	IBA	biological process
GO:0003954	NADH dehydrogenase activity	IBA	contributes to
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IBA	molecular function
GO:0032981	mitochondrial respiratory chain complex I assembly	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048038	quinone binding	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
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:0070469	respirasome	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
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:0043005	neuron projection	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0002020	protease binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
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	NAS	cellular component
GO:0003954	NADH dehydrogenase activity	IMP	contributes to
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	NAS	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
Bipolar disorder	PMID:20368511
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray