The NDUFB8 gene is located on the q arm of chromosome 10 in position 24.31 and is 6,194 base pairs long.[8][9]
Structureedit
The NDUFB8 protein weighs 22 kDa and is composed of 186 amino acids.[8][9] NDUFB8 is a subunit of the enzyme NADH dehydrogenase (ubiquinone), the largest of the respiratory complexes. The structure is L-shaped with a long, hydrophobictransmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site.[7]NDUFB7 and NDUFB8 have been shown to localize at the intermembrane surface of complex I.[10] It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of Complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase (ubiquinone) complex at the inner mitochondrial membrane.[6]
Functionedit
The protein encoded by this gene is an accessory subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I) that is not directly involved in catalysis. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein complex has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.[6] Initially, NADH binds to Complex I and transfers two electrons to the 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.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000166136 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025204 - 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.
^Emahazion T, Brookes AJ (Nov 1998). "Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping". Cytogenetics and Cell Genetics. 82 (1–2): 114. doi:10.1159/000015081. PMID 9763676. S2CID 46861680.
^ abcVoet D, Voet JG, Pratt CW (2013). "Chapter 18". Fundamentals of biochemistry: life at the molecular level (4th ed.). Hoboken, NJ: Wiley. pp. 581–620. ISBN978-0-470-54784-7.
^ abZong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC4076475. PMID 23965338.
^Szklarczyk R, Wanschers BF, Nabuurs SB, Nouws J, Nijtmans LG, Huynen MA (Mar 2011). "NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I". FEBS Letters. 585 (5): 737–43. doi:10.1016/j.febslet.2011.01.046. PMID 21310150. S2CID 20557524.
Further readingedit
Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Dunbar DR, Shibasaki Y, Dobbie L, Andersson B, Brookes AJ (1997). "In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes". Cytogenetics and Cell Genetics. 78 (1): 21–4. doi:10.1159/000134618. PMID 9345899.
Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA (Dec 1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed". Biochemical and Biophysical Research Communications. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551.
Emahazion T, Jobs M, Howell WM, Siegfried M, Wyöni PI, Prince JA, Brookes AJ (Oct 1999). "Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathways". Gene. 238 (2): 315–24. doi:10.1016/S0378-1119(99)00330-3. PMID 10570959.
Zhang QH, Ye M, Wu XY, Ren SX, Zhao M, Zhao CJ, Fu G, Shen Y, Fan HY, Lu G, Zhong M, Xu XR, Han ZG, Zhang JW, Tao J, Huang QH, Zhou J, Hu GX, Gu J, Chen SJ, Chen Z (Oct 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC310934. PMID 11042152.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC1083732. PMID 11256614.
Ma J, Dempsey AA, Stamatiou D, Marshall KW, Liew CC (Mar 2007). "Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects". Atherosclerosis. 191 (1): 63–72. doi:10.1016/j.atherosclerosis.2006.05.032. PMID 16806233.
Hsieh SM, Maguire DJ, Lintell NA, McCabe M, Griffiths LR (2007). "Pten and Ndufb8 Aberrations in Cervical Cancer Tissue". Oxygen Transport to Tissue XXVIII. Advances in Experimental Medicine and Biology. Vol. 599. pp. 31–6. doi:10.1007/978-0-387-71764-7_5. ISBN978-0-387-71763-0. PMID 17727244.
April 12, 2024
ndufb8, nadh, dehydrogenase, ubiquinone, beta, subcomplex, subunit, mitochondrial, enzyme, that, humans, encoded, gene, nadh, dehydrogenase, ubiquinone, beta, subcomplex, subunit, accessory, subunit, nadh, dehydrogenase, ubiquinone, complex, located, mitochond. NADH dehydrogenase ubiquinone 1 beta subcomplex subunit 8 mitochondrial is an enzyme that in humans is encoded by the NDUFB8 gene 5 6 NADH dehydrogenase ubiquinone 1 beta subcomplex subunit 8 is an accessory subunit of the NADH dehydrogenase ubiquinone complex located in the mitochondrial inner membrane It is also known as Complex I and is the largest of the five complexes of the electron transport chain 7 NDUFB8IdentifiersAliasesNDUFB8 ASHI CI ASHI NADH ubiquinone oxidoreductase subunit B8 MC1DN32External IDsOMIM 602140 MGI 1914514 HomoloGene 3668 GeneCards NDUFB8Gene location Human Chr Chromosome 10 human 1 Band10q24 31Start100 523 740 bp 1 End100 530 000 bp 1 Gene location Mouse Chr Chromosome 19 mouse 2 Band19 19 C3Start44 537 011 bp 2 End44 543 879 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellBrodmann area 23ponsmiddle temporal gyrusBrodmann area 9superior vestibular nucleusprefrontal cortexamygdalacingulate gyrussuperior frontal gyrusTop expressed indigastric musclesternocleidomastoid muscletriceps brachii musclethoracic diaphragmtemporal muscleintercostal musclemyocardium of ventriclesoleus muscleextensor digitorum longus musclemotor neuronMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionNADH dehydrogenase ubiquinone activity NADH dehydrogenase activityCellular componentintegral component of membrane mitochondrial inner membrane respirasome endoplasmic reticulum membrane mitochondrion mitochondrial respiratory chain complex I mitochondrial matrixBiological processmitochondrial respiratory chain complex I assembly mitochondrial electron transport NADH to ubiquinoneSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez471467264EnsemblENSG00000166136ENSMUSG00000025204UniProtO95169Q9D6J5RefSeq mRNA NM 005004NM 001284367NM 001284368NM 026061NM 001347447RefSeq protein NP 001271296NP 001271297NP 004995NP 001334376NP 080337Location UCSC Chr 10 100 52 100 53 MbChr 19 44 54 44 54 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Gene 2 Structure 3 Function 4 References 5 Further readingGene editThe NDUFB8 gene is located on the q arm of chromosome 10 in position 24 31 and is 6 194 base pairs long 8 9 Structure editThe NDUFB8 protein weighs 22 kDa and is composed of 186 amino acids 8 9 NDUFB8 is a subunit of the enzyme NADH dehydrogenase ubiquinone the largest of the respiratory complexes The structure is L shaped with a long hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site 7 NDUFB7 and NDUFB8 have been shown to localize at the intermembrane surface of complex I 10 It has been noted that the N terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C terminal hydrophilic domain interacting with globular subunits of Complex I The highly conserved two domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase ubiquinone complex at the inner mitochondrial membrane 6 Function editThe protein encoded by this gene is an accessory subunit of the multisubunit NADH ubiquinone oxidoreductase complex I that is not directly involved in catalysis Mammalian complex I is composed of 45 different subunits It locates at the mitochondrial inner membrane This protein complex has NADH dehydrogenase activity and oxidoreductase activity It transfers electrons from NADH to the respiratory chain The immediate electron acceptor for the enzyme is believed to be ubiquinone Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified 6 Initially NADH binds to Complex I and transfers two electrons to the 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 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000166136 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025204 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 Emahazion T Brookes AJ Nov 1998 Mapping of the NDUFA2 NDUFA6 NDUFA7 NDUFB8 and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping Cytogenetics and Cell Genetics 82 1 2 114 doi 10 1159 000015081 PMID 9763676 S2CID 46861680 a b c Entrez Gene NDUFB8 NADH dehydrogenase ubiquinone 1 beta subcomplex 8 19kDa a b c Voet D Voet JG Pratt CW 2013 Chapter 18 Fundamentals of biochemistry life at the molecular level 4th ed Hoboken NJ Wiley pp 581 620 ISBN 978 0 470 54784 7 a b Zong NC Li H Li H Lam MP Jimenez RC Kim CS Deng N Kim AK Choi JH Zelaya I Liem D Meyer D Odeberg J Fang C Lu HJ Xu T Weiss J Duan H Uhlen M Yates JR Apweiler R Ge J Hermjakob H Ping P Oct 2013 Integration of cardiac proteome biology and medicine by a specialized knowledgebase Circulation Research 113 9 1043 53 doi 10 1161 CIRCRESAHA 113 301151 PMC 4076475 PMID 23965338 a b NADH dehydrogenase ubiquinone 1 beta subcomplex subunit 8 Cardiac Organellar Protein Atlas Knowledgebase COPaKB Szklarczyk R Wanschers BF Nabuurs SB Nouws J Nijtmans LG Huynen MA Mar 2011 NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I FEBS Letters 585 5 737 43 doi 10 1016 j febslet 2011 01 046 PMID 21310150 S2CID 20557524 Further reading editBonaldo MF Lennon G Soares MB Sep 1996 Normalization and subtraction two approaches to facilitate gene discovery Genome Research 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Dunbar DR Shibasaki Y Dobbie L Andersson B Brookes AJ 1997 In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes Cytogenetics and Cell Genetics 78 1 21 4 doi 10 1159 000134618 PMID 9345899 Loeffen JL Triepels RH van den Heuvel LP Schuelke M Buskens CA Smeets RJ Trijbels JM Smeitink JA Dec 1998 cDNA of eight nuclear encoded subunits of NADH ubiquinone oxidoreductase human complex I cDNA characterization completed Biochemical and Biophysical Research Communications 253 2 415 22 doi 10 1006 bbrc 1998 9786 PMID 9878551 Emahazion T Jobs M Howell WM Siegfried M Wyoni PI Prince JA Brookes AJ Oct 1999 Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathways Gene 238 2 315 24 doi 10 1016 S0378 1119 99 00330 3 PMID 10570959 Zhang QH Ye M Wu XY Ren SX Zhao M Zhao CJ Fu G Shen Y Fan HY Lu G Zhong M Xu XR Han ZG Zhang JW Tao J Huang QH Zhou J Hu GX Gu J Chen SJ Chen Z Oct 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34 hematopoietic stem progenitor cells Genome Research 10 10 1546 60 doi 10 1101 gr 140200 PMC 310934 PMID 11042152 Wiemann S Weil B Wellenreuther R Gassenhuber J Glassl S Ansorge W Bocher M Blocker H Bauersachs S Blum H Lauber J Dusterhoft A Beyer A Kohrer K Strack N Mewes HW Ottenwalder B Obermaier B Tampe J Heubner D Wambutt R Korn B Klein M Poustka A Mar 2001 Toward a catalog of human genes and proteins sequencing and analysis of 500 novel complete protein coding human cDNAs Genome Research 11 3 422 35 doi 10 1101 gr GR1547R PMC 311072 PMID 11230166 Simpson JC Wellenreuther R Poustka A Pepperkok R Wiemann S Sep 2000 Systematic subcellular localization of novel proteins identified by large scale cDNA sequencing EMBO Reports 1 3 287 92 doi 10 1093 embo reports kvd058 PMC 1083732 PMID 11256614 Ma J Dempsey AA Stamatiou D Marshall KW Liew CC Mar 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects Atherosclerosis 191 1 63 72 doi 10 1016 j atherosclerosis 2006 05 032 PMID 16806233 Hsieh SM Maguire DJ Lintell NA McCabe M Griffiths LR 2007 Pten and Ndufb8 Aberrations in Cervical Cancer Tissue Oxygen Transport to Tissue XXVIII Advances in Experimental Medicine and Biology Vol 599 pp 31 6 doi 10 1007 978 0 387 71764 7 5 ISBN 978 0 387 71763 0 PMID 17727244 Retrieved from https en wikipedia org w index php title NDUFB8 amp oldid 1190648763, wikipedia, wiki, book, books, library,
