MT-ND3
| ND3 | |||
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Gene ontology | |||
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Ensembl | |||||||||
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| RefSeq (protein) |
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| Location (UCSC) | Chr M: 0.01 – 0.01 Mb | Chr M: 0.01 – 0.01 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
MT-ND3 is a
Structure
General features
MT-ND3 is located in human
hydrophilic domain for the peripheral arm that includes all the known redox centres and the NADH binding site. The MT-ND3 product and the rest of the mitochondrially encoded subunits are the most hydrophobic of the subunits of Complex I and form the core of the transmembrane region.[6]
Untranslated extra nucleotide
In the MT-ND3 gene from many species of birds and turtles [11] there is an extra nucleotide that is not translated to protein.[12]
Translational frameshifting or RNA editing
are alternative explanations for maintenance of the functionality of the ND3 reading frame in birds possessing the one-nucleotide insertion.
This extra nucleotide feature suggests that turtles might be related to The absence of the extra nucleotide in crocodilians and some birds and turtles might also indicate that the corresponding taxa have lost this feature.
Function
The MT-ND3 product is a subunit of the respiratory chain
isoalloxazine ring of the flavin mononucleotide (FMN) prosthetic arm to form FMNH2. The electrons are transferred through a series of iron-sulfur (Fe-S) clusters in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to ubiquinol (CoQH2). The flow of electrons changes the redox state of the protein, resulting in a conformational change and pK shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.[6]
Clinical significance
Pathogenic variants of the mitochondrial gene MT-ND3 are known to cause mtDNA-associated
MELAS) and the previously mentioned Leigh syndrome.[8]
Interactions
MT-ND3 has been shown to have 5 binary protein-protein interactions including 2 co-complex interactions. MT-ND3 appears to interact with APP and NDUFA9.[16]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000198840 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064360 – 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-ND3 NADH dehydrogenase subunit 3".
- ^ ISBN 9780470547847.
- ^ PMID 20301352.
- ^ PMID 24884847.
- PMID 23965338.
- ^ "NADH-ubiquinone oxidoreductase chain 3". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
- ^ "Complete mitochondrial genome sequences". megasun.bch.umontreal.ca. Retrieved 2017-02-20.
- PMID 12572620.
- PMID 22839781.
- PMID 22593086.
- ^ "MT-ND3 - NADH-ubiquinone oxidoreductase chain 3 - Homo sapiens (Human)". UniProt.org: a hub for protein information. The UniProt Consortium.
- ^ "5 binary interactions found for search term MT-ND3". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-08-25.
Further reading
- Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, Gilad E, Lerman-Sagie T (August 2005). "Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene". Biochemical and Biophysical Research Communications. 334 (2): 582–7. PMID 16023078.
- Levy RJ, Ríos PG, Akman HO, Sciacco M, Vivo DC, DiMauro S (October 2014). "Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature". Journal of Child Neurology. 29 (10): NP105–10. PMID 24284231.
- Grosso S, Carluccio MA, Cardaioli E, Cerase A, Malandrini A, Romano C, Federico A, Dotti MT (March 2017). "Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum". Brain & Development. 39 (3): 261–265. S2CID 6565853.
- 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.
- 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.
- Ingman M, Kaessmann H, Pääbo S, Gyllensten U (December 2000). "Mitochondrial genome variation and the origin of modern humans". Nature. 408 (6813): 708–13. S2CID 52850476.
- Finnilä S, Lehtonen MS, Majamaa K (June 2001). "Phylogenetic network for European mtDNA". American Journal of Human Genetics. 68 (6): 1475–84. PMID 11349229.
- Maca-Meyer N, González AM, Larruga JM, Flores C, Cabrera VM (2003). "Major genomic mitochondrial lineages delineate early human expansions". BMC Genetics. 2: 13. PMID 11553319.
- Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (May 2002). "Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups". American Journal of Human Genetics. 70 (5): 1152–71. PMID 11938495.
- Silva WA, Bonatto SL, Holanda AJ, Ribeiro-Dos-Santos AK, Paixão BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Paçó-Larson ML, Petzl-Erler ML, Valente V, Santos SE, Zago MA (July 2002). "Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America". American Journal of Human Genetics. 71 (1): 187–92. PMID 12022039.
- Sudoyo H, Suryadi H, Lertrit P, Pramoonjago P, Lyrawati D, Marzuki S (2003). "Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy". Journal of Human Genetics. 47 (11): 594–604. PMID 12436196.
- Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (January 2003). "Natural selection shaped regional mtDNA variation in humans". Proceedings of the National Academy of Sciences of the United States of America. 100 (1): 171–6. PMID 12509511.
- Ingman M, Gyllensten U (July 2003). "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines". Genome Research. 13 (7): 1600–6. PMID 12840039.
- Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP (September 2003). "Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences". American Journal of Human Genetics. 73 (3): 671–6. PMID 12870132.
- Moilanen JS, Finnila S, Majamaa K (December 2003). "Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J". Molecular Biology and Evolution. 20 (12): 2132–42. PMID 12949126.
- Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ (June 2004). "Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians". International Journal of Legal Medicine. 118 (3): 137–46. S2CID 8413730.
- Crimi M, Papadimitriou A, Galbiati S, Palamidou P, Fortunato F, Bordoni A, Papandreou U, Papadimitriou D, Hadjigeorgiou GM, Drogari E, Bresolin N, Comi GP (May 2004). "A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality". Pediatric Research. 55 (5): 842–6. PMID 14764913.
- Tanaka M, Cabrera VM, González AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H (October 2004). "Mitochondrial genome variation in eastern Asia and the peopling of Japan". Genome Research. 14 (10A): 1832–50. PMID 15466285.
- Palanichamy MG, Sun C, Agrawal S, Bandelt HJ, Kong QP, Khan F, Wang CY, Chaudhuri TK, Palla V, Zhang YP (December 2004). "Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia". American Journal of Human Genetics. 75 (6): 966–78. PMID 15467980.
- Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, Torroni A, Brown MD, Lott MT, Hosseini SH, Huoponen K, Wallace DC (January 2005). "Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups". Annals of Human Genetics. 69 (Pt 1): 67–89. PMID 15638829.
- Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt HJ, Semino O, Torroni A (May 2005). "Saami and Berbers--an unexpected mitochondrial DNA link". American Journal of Human Genetics. 76 (5): 883–6. PMID 15791543.
- Rajkumar R, Banerjee J, Gunturi HB, Trivedi R, Kashyap VK (April 2005). "Phylogeny and antiquity of M macrohaplogroup inferred from complete mt DNA sequence of Indian specific lineages". BMC Evolutionary Biology. 5: 26. PMID 15804362.
- Friedlaender J, Schurr T, Gentz F, Koki G, Friedlaender F, Horvat G, Babb P, Cerchio S, Kaestle F, Schanfield M, Deka R, Yanagihara R, Merriwether DA (June 2005). "Expanding Southwest Pacific mitochondrial haplogroups P and Q". Molecular Biology and Evolution. 22 (6): 1506–17. PMID 15814828.