• Gene id: 55967

Gene Summary

• Gene Symbol: NDUFA12   Gene   UCSC   Ensembl
• Aliases: B17.2, DAP13, MC1DN23
• Gene name: NADH:ubiquinone oxidoreductase subunit A12
• Alternate names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12, 13 kDa differentiation-associated protein, CI-B17.2, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12, NADH-ubiquinone oxidoreductase subunit B17.2, complex I B17.2 subunit,
• Gene location: 12q22 (95003712: 94971327)     Exons: 4     NC_000012.12
• Gene summary(Entrez): This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutati
• OMIM: 614530

Protein Summary

• Protein general information: Q9UI09  
  • Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (13 kDa differentiation associated protein) (Complex I B17.2) (CI B17.2) (CIB17.2) (NADH ubiquinone oxidoreductase subunit B17.2)
  • Length: 145  
  • Mass: 17114
• Sequence:

  MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHRWVVYTTEMNGKNTFW
  DVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGTPEQYVPYSTTRKKIQEWIPPSTPYK

• Structural information:
  • Interpro: IPR007763  
  • PDB: 5XTB 5XTD 5XTH 5XTI
  • PDBsum: 5XTB 5XTD 5XTH 5XTI
  • STRING: ENSP00000330737
• Other Databases: GeneCards:  NDUFA12  Malacards:  NDUFA12

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:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	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:0006979	response to oxidative stress	IDA	biological process
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	molecular function
GO:0007585	respiratory gaseous exchange by respiratory system	NAS	biological process

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
Leigh syndrome	KEGG:H01354
Leigh syndrome	KEGG:H01354
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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