• Gene id: 4719

Gene Summary

• Gene Symbol: NDUFS1   Gene   UCSC   Ensembl
• Aliases: CI-75Kd, CI-75k, MC1DN5, PRO1304
• Gene name: NADH:ubiquinone oxidoreductase core subunit S1
• Alternate names: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase), complex I 75kDa subunit, complex I, mitochondrial respiratory chain, 75-kD subunit, mitochondrial NADH-ubiquinone ,
• Gene location: 2q33.3 (206159443: 206114816)     Exons: 20     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase acti
• OMIM: 157655

Protein Summary

• Protein general information: P28331  
  • Name: NADH ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC 1.6.99.3) (EC 7.1.1.2) (Complex I 75kD) (CI 75kD)
  • Length: 727  
  • Mass: 79468
• Sequence:

  MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQIPRFCYHERLSVAGNC
  RMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFGNDR
  SRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDI
  CPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQ
  RLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTA
  GAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPK
  ILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAA
  LDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTE
  GRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLV
  NQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQAVEEPSIC

• Structural information:
  • Protein Domains: (30..10-)
    (/note="2Fe-2S-ferredoxin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00465-)
    (108..14-)
    (/note="4Fe-4S-His(Cys)3-ligated-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01184-)
    (245..30-)
    bis-MGD-ty (/note="4Fe-4S-Mo/W)
  • Interpro: IPR036010  IPR001041  IPR006656  IPR006963  IPR000283   IPR010228  IPR019574  IPR015405  
  • Prosite: PS51085 PS51839 PS51669 PS00641 PS00642 PS00643
  • CDD: cd00207
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000392709
• Other Databases: GeneCards:  NDUFS1  Malacards:  NDUFS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0016651	oxidoreductase activity, acting on NAD(P)H	IEA	molecular function
GO:0042773	ATP synthesis coupled electron transport	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0051537	2 iron, 2 sulfur cluster binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0070469	respirasome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	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:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0008637	apoptotic mitochondrial changes	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0045333	cellular respiration	IMP	biological process
GO:0072593	reactive oxygen species metabolic process	IMP	biological process
GO:0072593	reactive oxygen species metabolic process	IMP	biological process
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0051881	regulation of mitochondrial membrane potential	IMP	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	contributes to
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	contributes to
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0046034	ATP metabolic process	IMP	biological process
GO:0045333	cellular respiration	IMP	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0072593	reactive oxygen species metabolic process	IMP	biological process
GO:0009055	electron transfer activity	NAS	molecular function
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP	contributes to
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
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
Mitochondrial complex I deficiency	KEGG:H00473
Mitochondrial complex I deficiency	PMID:11349233
inherited metabolic disorder	PMID:11349233
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq