Version 5.4
| Homo sapiens Gene: NDUFA5 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-38849.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | NDUFA5 | ||||||||||||||||||
| Gene Name | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa | ||||||||||||||||||
| Synonyms | B13; CI-13kB; CI-13KD-B; NUFM; UQOR13 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000128609 | ||||||||||||||||||
| Encoded Proteins |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble "iron-sulfur protein" (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes. [provided by RefSeq, Jul 2008] This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 7:123536997-123558255 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q31.32 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 19 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 | Q16718 | ||||||||||||||||||
| TrEMBL | A0A024R736 A0A024R745 A0A024R772 C9IZN5 F8WAS3 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 4698 | ||||||||||||||||||
| UniGene | Hs.608168 Hs.613673 Hs.651219 | ||||||||||||||||||
| RefSeq | NM_001282419 NM_001282420 NM_001282421 NM_001282422 NM_001291304 NM_005000 | ||||||||||||||||||
| HUGO | HGNC:7688 | ||||||||||||||||||
| OMIM | 601677 | ||||||||||||||||||
| CCDS | CCDS5788 CCDS64760 CCDS75655 CCDS75656 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC073323 AF044415 AF044416 AF044417 AF044418 AK315458 BC000813 BC020821 BC070236 BC070237 BT006695 CH471070 CR933664 U53468 U64028 | ||||||||||||||||||
| GenPept | AAB02224 AAB37259 AAD21526 AAH00813 AAH20821 AAH70236 AAH70237 AAP35341 AAQ96854 BAG37845 CAI45962 EAW83587 EAW83588 EAW83589 EAW83590 EAW83591 EAW83592 | ||||||||||||||||||
| RNA Seq Atlas | 4698 | ||||||||||||||||||