Identification |
HMDB Protein ID
| HMDBP00189 |
Secondary Accession Numbers
| |
Name
| NADH-ubiquinone oxidoreductase chain 6 |
Synonyms
|
- NADH dehydrogenase subunit 6
|
Gene Name
| MT-ND6 |
Protein Type
| Unknown |
Biological Properties |
General Function
| Involved in NADH dehydrogenase (ubiquinone) activity |
Specific Function
| Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).
|
Pathways
|
- Oxidative phosphorylation
- Parkinson disease
|
Reactions
|
NADH + Coenzyme Q10 → NAD + QH(2) |
details
|
QH2 + Acceptor → Ubiquinone-2 + Reduced acceptor |
details
|
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GO Classification
|
Biological Process |
small molecule metabolic process |
mitochondrial electron transport, NADH to ubiquinone |
response to hydrogen peroxide |
Cellular Component |
mitochondrial respiratory chain complex I |
integral to membrane |
Function |
catalytic activity |
nadh dehydrogenase activity |
nadh dehydrogenase (quinone) activity |
nadh dehydrogenase (ubiquinone) activity |
oxidoreductase activity |
oxidoreductase activity, acting on nadh or nadph |
Molecular Function |
NADH dehydrogenase (ubiquinone) activity |
Process |
metabolic process |
oxidation reduction |
|
Cellular Location
|
- Multi-pass membrane protein (Potential)
- Mitochondrion membrane
|
Gene Properties |
Chromosome Location
| Not Available |
Locus
| Not Available |
SNPs
| MT-ND6 |
Gene Sequence
|
>525 bp
ATGATGTATGCTTTGTTTCTGTTGAGTGTGGGTTTAGTAATGGGGTTTGTGGGGTTTTCT
TCTAAGCCTTCTCCTATTTATGGGGGTTTAGTATTGATTGTTAGCGGTGTGGTCGGGTGT
GTTATTATTCTGAATTTTGGGGGAGGTTATATGGGTTTAATAGTTTTTTTAATTTATTTA
GGGGGAATGATGGTTGTCTTTGGATATACTACAGCGATGGCTATTGAGGAGTATCCTGAG
GCATGGGGGTCAGGGGTTGAGGTCTTGGTGAGTGTTTTAGTGGGGTTAGCGATGGAGGTA
GGATTCGTCCTGTGGGTGAAAGAGTATGATGGGGTGGTGGTTGTGGTAAACTTTAATAGT
GTAGGAAGCTGAATAATTTATGAAGGAGAGGGGTCAGGGTTCATTCGGGAGGATCCTATT
GGTGCGGGGGCTTTGTATGATTATGGGCGTTGATTAGTAGTAGTTACTGGTTGACCATTG
TTTGTTGGTGTATATATTGTAATTGAGATTGCTCGGGGGAATAGG
|
Protein Properties |
Number of Residues
| 174 |
Molecular Weight
| 18622.045 |
Theoretical pI
| 4.206 |
Pfam Domain Function
|
|
Signals
|
Not Available
|
Transmembrane Regions
|
Not Available
|
Protein Sequence
|
>NADH-ubiquinone oxidoreductase chain 6
MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYL
GGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNS
VGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN
|
External Links |
GenBank ID Protein
| 13015 |
UniProtKB/Swiss-Prot ID
| P03923 |
UniProtKB/Swiss-Prot Entry Name
| NU6M_HUMAN |
PDB IDs
|
Not Available |
GenBank Gene ID
| V00662 |
GeneCard ID
| MT-ND6 |
GenAtlas ID
| MT-ND6 |
HGNC ID
| HGNC:7462 |
References |
General References
| - Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457-65. [PubMed:7219534 ]
- Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532-6. [PubMed:7530363 ]
- Moilanen JS, Finnila S, Majamaa K: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol. 2003 Dec;20(12):2132-42. Epub 2003 Aug 29. [PubMed:12949126 ]
- Ingman M, Kaessmann H, Paabo S, Gyllensten U: Mitochondrial genome variation and the origin of modern humans. Nature. 2000 Dec 7;408(6813):708-13. [PubMed:11130070 ]
- Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. [PubMed:12840039 ]
- Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med. 2004 Jun;118(3):137-46. Epub 2004 Feb 4. [PubMed:14760490 ]
- Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139-45. [PubMed:1757091 ]
- Johns DR, Neufeld MJ, Park RD: An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551-7. [PubMed:1417830 ]
- De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA: Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet. 1996 Apr;58(4):703-11. [PubMed:8644732 ]
- Sudoyo H, Sitepu M, Malik S, Poesponegoro HD, Marzuki S: Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. Hum Mutat. 1998;Suppl 1:S271-4. [PubMed:9452107 ]
- Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K, et al.: Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun. 1991 May 31;177(1):518-25. [PubMed:2043137 ]
- Jun AS, Brown MD, Wallace DC: A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6206-10. [PubMed:8016139 ]
- Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B: Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. Ger J Ophthalmol. 1996 Jul;5(4):233-40. [PubMed:8854108 ]
- Besch D, Leo-Kottler B, Zrenner E, Wissinger B: Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):745-52. [PubMed:10447650 ]
- Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N: The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain. 2001 Jan;124(Pt 1):209-18. [PubMed:11133798 ]
- Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M: An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet. 2001 Oct;9(10):805-9. [PubMed:11781695 ]
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