• Gene id: 4541

Gene Summary

• Gene Symbol: ND6   Gene   UCSC   Ensembl
• Aliases: MTND6
• Gene name: mitochondrially encoded NADH dehydrogenase 6
• Alternate names: NADH dehydrogenase, subunit 6 (complex I), NADH dehydrogenase subunit 6,

Protein Summary

• Protein general information: P03923  
  • Name: NADH ubiquinone oxidoreductase chain 6 (EC 7.1.1.2) (NADH dehydrogenase subunit 6)
  • Length: 174  
  • Mass: 18622
• Sequence:

  MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYTTAMAI
  EEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGR
  WLVVVTGWTLFVGVYIVIEIARGN

• Structural information:
  • Interpro: IPR001457  
  • PDB: 5XTC 5XTD
  • PDBsum: 5XTC 5XTD
  • STRING: ENSP00000354665
• Other Databases: GeneCards:  ND6  Malacards:  ND6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	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	IEA	molecular function
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:0032981	mitochondrial respiratory chain complex I assembly	TAS	biological process
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	TAS	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component

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

Diseases

Associated diseases	References
Mitochondrial complex I deficiency	KEGG:H00473
Leber hereditary optic atrophy	KEGG:H00068
MELAS Syndrome	KEGG:H01347
Kearns-Sayre syndrome	KEGG:H01355
Leber hereditary optic neuropathy and dystonia	KEGG:H01365
Mitochondrial complex I deficiency	KEGG:H00473
Leber hereditary optic atrophy	KEGG:H00068
MELAS Syndrome	KEGG:H01347
Kearns-Sayre syndrome	KEGG:H01355
Leber hereditary optic neuropathy and dystonia	KEGG:H01365
Leigh disease	PMID:20019223
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq