• Gene id: 4700

Gene Summary

• Gene Symbol: NDUFA6   Gene   UCSC   Ensembl
• Aliases: B14, CI-B14, LYRM6, MC1DN33, NADHB14
• Gene name: NADH:ubiquinone oxidoreductase subunit A6
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6, Complex I-B14, LYR motif-containing protein 6, NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 6, NADH-ubiquinone oxidoreductase B14 subunit,
• Gene location: 22q13.2 (42090771: 42085525)     Exons: 3     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme o
• OMIM: 602138

Protein Summary

• Protein general information: P56556  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 (Complex I B14) (CI B14) (LYR motif containing protein 6) (NADH ubiquinone oxidoreductase B14 subunit)
  • Length: 128  
  • Mass: 15137
• Sequence:

  MAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVPNTVHQFQLDITVKMGRDKVREMFMKNAHVTD
  PRVVDLLVIKGKIELEETIKVWKQRTHVMRFFHETEAPRPKDFLSKFYVGHDP

• Structural information:
  • Interpro: IPR008011  IPR016488  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000418842
• Other Databases: GeneCards:  NDUFA6  Malacards:  NDUFA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0006979	response to oxidative stress	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:0055114	oxidation-reduction process	IEA	biological process
GO:0070469	respirasome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	TAS	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: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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0006979	response to oxidative stress	IDA	biological process
GO:0005747	mitochondrial respiratory chain complex I	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0005747	mitochondrial respiratory chain complex I	NAS	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
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Alzheimer's disease	PMID:26943237
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)