• Gene id: 4712

Gene Summary

• Gene Symbol: NDUFB6   Gene   UCSC   Ensembl
• Aliases: B17, CI
• Gene name: NADH:ubiquinone oxidoreductase subunit B6
• Alternate names: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6, CI-B17, NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa, NADH-ubiquinone oxidoreductase B17 subunit, NADH-ubiquinone oxidoreductase beta subunit, 6, complex I, mitochondrial respiratory c,
• Gene location: 9p21.1 (20197374: 20226851)     Exons: 14     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase act
• OMIM: 603322

Protein Summary

• Protein general information: O95139  
  • Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 (Complex I B17) (CI B17) (NADH ubiquinone oxidoreductase B17 subunit)
  • Length: 128  
  • Mass: 15489
• Sequence:

  MTGYTPDEKLRLQQLRELRRRWLKDQELSPREPVLPPQKMGPMEKFWNKFLENKSPWRKMVHGVYKKSIFVFTHV
  LVPVWIIHYYMKYHVSEKPYGIVEKKSRIFPGDTILETGEVIPPMKEFPDQHH

• Structural information:
  • Interpro: IPR019174  
  • PDB: 5XTC 5XTD 5XTH 5XTI
  • PDBsum: 5XTC 5XTD 5XTH 5XTI
  • STRING: ENSP00000369176
• Other Databases: GeneCards:  NDUFB6  Malacards:  NDUFB6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0042775	mitochondrial ATP synthesis coupled electron transport	IBA	biological process
GO:0005747	mitochondrial respiratory chain complex I	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:0006120	mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	molecular function
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
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	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005747	mitochondrial respiratory chain complex I	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0042775	mitochondrial ATP synthesis coupled electron transport	IMP	biological process
GO:0005747	mitochondrial respiratory chain complex I	IMP	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0005747	mitochondrial respiratory chain complex I	NAS	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
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
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