MT-ND1
ND1 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | Chr M: 0 – 0 Mb | Chr M: 0 – 0 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
MT-ND1 is a
Structure
MT-ND1 is located in mitochondrial DNA from base pair 3,307 to 4,262.
Function
MT-ND1-encoded NADH-ubiquinone oxidoreductase chain 1 is a subunit of the respiratory chain
Clinical significance
Pathogenic variants of the mitochondrial gene MT-ND1 are known to cause mtDNA-associated
.Mitochondrial dysfunction resulting from variants of MT-ND1, MT-ND2 and MT-ND4L have been linked to BMI in adults and implicated in metabolic disorders including obesity, diabetes and hypertension.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198888 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064341 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: MT-ND1 NADH dehydrogenase subunit 1".
- ^ ISBN 978-0-47054784-7.
- ^ PMID 20301352.
- ^ PMID 24884847.
- ^ PMID 25153900.
- PMID 23965338.
- ^ "NADH-ubiquinone oxidoreductase chain 1". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
- ^ "MT-ND1 - NADH-ubiquinone oxidoreductase chain 1 - Homo sapiens (Human)". UniProt.org: a hub for protein information. The UniProt Consortium.
- PMID 17562939.
- PMID 15657614.
Further reading
- Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ (June 2006). "Harvesting the fruit of the human mtDNA tree". Trends in Genetics. 22 (6): 339–45. PMID 16678300.
- Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". Human Molecular Genetics. 1 (2): 140. PMID 1301157.
- Lu X, Walker T, MacManus JP, Seligy VL (July 1992). "Differentiation of HT-29 human colonic adenocarcinoma cells correlates with increased expression of mitochondrial RNA: effects of trehalose on cell growth and maturation". Cancer Research. 52 (13): 3718–25. PMID 1377597.
- Johns DR, Neufeld MJ, Park RD (September 1992). "An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy". Biochemical and Biophysical Research Communications. 187 (3): 1551–7. PMID 1417830.
- Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (June 1991). "A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy". American Journal of Human Genetics. 48 (6): 1147–53. PMID 1674640.
- Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E (December 1991). "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base". Human Genetics. 88 (2): 139–45. S2CID 28048453.
- Johns DR, Berman J (February 1991). "Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy". Biochemical and Biophysical Research Communications. 174 (3): 1324–30. PMID 1900003.
- Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM (November 1991). "Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees". American Journal of Human Genetics. 49 (5): 939–50. PMID 1928099.
- Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikström M (November 1991). "Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)". FEBS Letters. 292 (1–2): 289–92. S2CID 26368887.
- Moraes CT, Andreetta F, Bonilla E, Shanske S, DiMauro S, Schon EA (March 1991). "Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region". Molecular and Cellular Biology. 11 (3): 1631–7. PMID 1996112.
- Howell N, Kubacka I, Xu M, McCullough DA (May 1991). "Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation". American Journal of Human Genetics. 48 (5): 935–42. PMID 2018041.
- Attardi G, Chomyn A, Doolittle RF, Mariottini P, Ragan CI (1987). "Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase". Cold Spring Harbor Symposia on Quantitative Biology. 51 (1): 103–14. PMID 3472707.
- Chomyn A, Cleeter MW, Ragan CI, Riley M, Doolittle RF, Attardi G (October 1986). "URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit". Science. 234 (4776): 614–8. PMID 3764430.
- Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G (1985). "Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase". Nature. 314 (6012): 592–7. S2CID 32964006.
- Sanger F, Coulson AR, Barrell BG, Smith AJ, Roe BA (October 1980). "Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing". Journal of Molecular Biology. 143 (2): 161–78. PMID 6260957.
- Pagani S, Galante YM (January 1983). "Interaction of rhodanese with mitochondrial NADH dehydrogenase". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 742 (2): 278–84. PMID 6402020.
- 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 (April 1981). "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457–65. S2CID 4355527.
- Montoya J, Ojala D, Attardi G (April 1981). "Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs". Nature. 290 (5806): 465–70. S2CID 4358928.
- Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N (January 1995). "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs". Proceedings of the National Academy of Sciences of the United States of America. 92 (2): 532–6. PMID 7530363.
- Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y, Ueda H, Uchigata Y, Miki T, Kumahara Y (April 1995). "A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus". Biochemical and Biophysical Research Communications. 209 (2): 664–8. PMID 7733935.
- Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F (December 2013). "Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome". Human Mutation. 34 (12): 1623–7. S2CID 205921964.
- Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S (June 2000). "Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy". American Journal of Human Genetics. 66 (6): 1900–4. PMID 10775530.