Version 5.4
| Homo sapiens Gene: NDUFA12 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-51491.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | NDUFA12 | ||||||||||||||||||
| Gene Name | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000184752 | ||||||||||||||||||
| Encoded Proteins |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 12:94897055-95003770 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q22 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Respiratory electron transport pathway
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
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| KEGG |
Alzheimer's disease pathway
Oxidative phosphorylation pathway
Parkinson's disease pathway
Huntington's disease pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9UI09 | ||||||||||||||||||
| TrEMBL | F8VRD8 F8VXI1 H0YIT1 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 55967 | ||||||||||||||||||
| UniGene | Hs.674965 | ||||||||||||||||||
| RefSeq | NM_001258338 NM_018838 | ||||||||||||||||||
| HUGO | HGNC:23987 | ||||||||||||||||||
| OMIM | 614530 | ||||||||||||||||||
| CCDS | CCDS58263 CCDS9050 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC011598 AC132009 AF112208 AF217092 BC005936 BT007220 | ||||||||||||||||||
| GenPept | AAF17196 AAF91224 AAH05936 AAP35884 | ||||||||||||||||||
| RNA Seq Atlas | 55967 | ||||||||||||||||||