This gene encodes a ubiquinone-binding protein of low molecular mass. It is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain.[5]
Clinical significanceedit
Variants of UQCRQ have been associated with complex III deficiency. One set of twenty consanguineous cases of a Ser45Phe mutation in the UQCRQ gene, and a different homozygous 4-bp deletion at p. 338-341, have been linked to this disease. In an inbred Israeli Bedouin family, the mutations, inherited in an autosomal recessive pattern, displayed the phenotype of mitochondrial Complex III deficiency, nuclear type 4, accompanied by severe neurological symptoms.[6] Other symptoms of complex III deficiency linked to these mutations have included hypoglycemia, lactic acidosis, and hypotonia.[12]
In another study of cardiac muscle tissue in individuals infected by Trypanosoma cruzi, an oxidative modification of the UQCRQ subunit was present, along with oxidative modification of subunits UQCRC1 and UQCRC2 of the same core complex and UQCRH and CYC1 of the neighboring subcomplex.[7]
^ abcGRCh38: Ensembl release 89: ENSG00000164405 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000044894 – 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.
^ ab"Entrez Gene: Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa". This article incorporates text from this source, which is in the public domain.
^ abBarel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS (May 2008). "Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ". American Journal of Human Genetics. 82 (5): 1211–6. doi:10.1016/j.ajhg.2008.03.020. PMC2427202. PMID 18439546.
^ abWen JJ, Garg N (December 2004). "Oxidative modification of mitochondrial respiratory complexes in response to the stress of Trypanosoma cruzi infection". Free Radical Biology & Medicine. 37 (12): 2072–81. doi:10.1016/j.freeradbiomed.2004.09.011. PMID 15544925.
^"Entrez Gene: Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa".
^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 (October 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.
^Usui S, Yu L, Yu CA (May 1990). "The small molecular mass ubiquinone-binding protein (QPc-9.5 kDa) in mitochondrial ubiquinol-cytochrome c reductase: isolation, ubiquinone-binding domain, and immunoinhibition". Biochemistry. 29 (19): 4618–26. doi:10.1021/bi00471a017. PMID 2164842.
^Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A (July 2003). "A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis". Human Genetics. 113 (2): 118–22. doi:10.1007/s00439-003-0946-0. PMID 12709789. S2CID 24273072.
^IntAct. "Interactions with UQCRQ". www.ebi.ac.uk. Retrieved 2018-08-02.
Further readingedit
Schägger H, Brandt U, Gencic S, von Jagow G (1995). "[7] Ubiquinol-cytochrome-c reductase from human and bovine mitochondria". Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. Methods in Enzymology. Vol. 260. pp. 82–96. doi:10.1016/0076-6879(95)60132-5. ISBN9780121821616. PMID 8592474.
Sifroni KG, Damiani CR, Stoffel C, Cardoso MR, Ferreira GK, Jeremias IC, Rezin GT, Scaini G, Schuck PF, Dal-Pizzol F, Streck EL (September 2010). "Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis". Molecular and Cellular Biochemistry. 342 (1–2): 111–5. doi:10.1007/s11010-010-0474-x. PMID 20440543. S2CID 34103232.
uqcrq, ubiquinol, cytochrome, reductase, complex, subunit, 5kda, protein, that, humans, encoded, gene, this, ubiqinone, binding, protein, subunit, mitochondrial, complex, electron, transport, chain, mutation, gene, been, shown, cause, severe, neurological, dis. Ubiquinol cytochrome c reductase complex III subunit VII 9 5kDa is a protein that in humans is encoded by the UQCRQ gene This ubiqinone binding protein is a subunit of mitochondrial Complex III in the electron transport chain 5 A mutation in the UQCRQ gene has been shown to cause severe neurological disorders 6 Infection by Trypanosoma cruzi can cause oxidative modification of this protein in cardiac muscle tissue 7 UQCRQIdentifiersAliasesUQCRQ MC3DN4 QCR8 QP C QPC UQCR7 ubiquinol cytochrome c reductase complex III subunit VIIExternal IDsOMIM 612080 MGI 107807 HomoloGene 40942 GeneCards UQCRQGene location Human Chr Chromosome 5 human 1 Band5q31 1Start132 866 630 bp 1 End132 868 847 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 11 B1 3Start53 318 749 bp 2 End53 321 658 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inbody of tongueleft ventriclerenal medullavena cavagastrocnemius muscleright lobe of liverright ventriclepylorusthoracic diaphragmsuperior surface of tongueTop expressed ininterventricular septumplantaris muscleextensor digitorum longus musclesoleus muscleyolk sacdigastric muscleextraocular muscleright ventriclegallbladderintercostal muscleMore reference expression dataBioGPSn aGene ontologyMolecular functionubiquinol cytochrome c reductase activityCellular componentmitochondrial inner membrane respirasome mitochondrion membrane mitochondrial respiratory chain complex IIIBiological processpons development pyramidal neuron development hippocampus development cerebellar Purkinje cell layer development midbrain development thalamus development hypothalamus development subthalamus development mitochondrial electron transport ubiquinol to cytochrome cSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2708922272EnsemblENSG00000164405ENSMUSG00000044894UniProtO14949Q9CQ69RefSeq mRNA NM 014402NM 025352NM 001326614RefSeq protein NP 055217NP 001313543NP 079628Location UCSC Chr 5 132 87 132 87 MbChr 11 53 32 53 32 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Function 3 Clinical significance 4 Interactions 5 References 6 Further readingStructure editThe UQCRQ gene is located on the q arm of chromosome 5 in position 31 1 and spans 2 217 base pairs 8 The gene produces a 9 9 kDa protein composed of 82 amino acids 9 10 This protein is transmembranous with more mass on the matrix side of the membrane 11 Function editThis gene encodes a ubiquinone binding protein of low molecular mass It is a small core associated protein and a subunit of ubiquinol cytochrome c reductase complex III which is part of the mitochondrial respiratory chain 5 Clinical significance editVariants of UQCRQ have been associated with complex III deficiency One set of twenty consanguineous cases of a Ser45Phe mutation in the UQCRQ gene and a different homozygous 4 bp deletion at p 338 341 have been linked to this disease In an inbred Israeli Bedouin family the mutations inherited in an autosomal recessive pattern displayed the phenotype of mitochondrial Complex III deficiency nuclear type 4 accompanied by severe neurological symptoms 6 Other symptoms of complex III deficiency linked to these mutations have included hypoglycemia lactic acidosis and hypotonia 12 In another study of cardiac muscle tissue in individuals infected by Trypanosoma cruzi an oxidative modification of the UQCRQ subunit was present along with oxidative modification of subunits UQCRC1 and UQCRC2 of the same core complex and UQCRH and CYC1 of the neighboring subcomplex 7 Interactions editThe protein encoded by UQCRQ has protein protein interactions with UQCRC1 OPTN ERCC8 GRINL1A Dctn1 K8 1 XRCC3 PML RAB7A HNRNPA1L2 CDC73 NLRP3 HAUS2 TMEM248 and GOLT1B 13 References edit a b c GRCh38 Ensembl release 89 ENSG00000164405 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000044894 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 Ubiquinol cytochrome c reductase complex III subunit VII 9 5kDa nbsp This article incorporates text from this source which is in the public domain a b Barel O Shorer Z Flusser H Ofir R Narkis G Finer G Shalev H Nasasra A Saada A Birk OS May 2008 Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ American Journal of Human Genetics 82 5 1211 6 doi 10 1016 j ajhg 2008 03 020 PMC 2427202 PMID 18439546 a b Wen JJ Garg N December 2004 Oxidative modification of mitochondrial respiratory complexes in response to the stress of Trypanosoma cruzi infection Free Radical Biology amp Medicine 37 12 2072 81 doi 10 1016 j freeradbiomed 2004 09 011 PMID 15544925 Entrez Gene Ubiquinol cytochrome c reductase complex III subunit VII 9 5kDa 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 October 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 UQCRQ Cytochrome b c1 complex subunit 8 Cardiac Organellar Protein Atlas Knowledgebase COPaKB Usui S Yu L Yu CA May 1990 The small molecular mass ubiquinone binding protein QPc 9 5 kDa in mitochondrial ubiquinol cytochrome c reductase isolation ubiquinone binding domain and immunoinhibition Biochemistry 29 19 4618 26 doi 10 1021 bi00471a017 PMID 2164842 Haut S Brivet M Touati G Rustin P Lebon S Garcia Cazorla A Saudubray JM Boutron A Legrand A Slama A July 2003 A deletion in the human QP C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis Human Genetics 113 2 118 22 doi 10 1007 s00439 003 0946 0 PMID 12709789 S2CID 24273072 IntAct Interactions with UQCRQ www ebi ac uk Retrieved 2018 08 02 Further reading editSchagger H Brandt U Gencic S von Jagow G 1995 7 Ubiquinol cytochrome c reductase from human and bovine mitochondria Ubiquinol cytochrome c reductase from human and bovine mitochondria Methods in Enzymology Vol 260 pp 82 96 doi 10 1016 0076 6879 95 60132 5 ISBN 9780121821616 PMID 8592474 Sifroni KG Damiani CR Stoffel C Cardoso MR Ferreira GK Jeremias IC Rezin GT Scaini G Schuck PF Dal Pizzol F Streck EL September 2010 Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis Molecular and Cellular Biochemistry 342 1 2 111 5 doi 10 1007 s11010 010 0474 x PMID 20440543 S2CID 34103232 This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title UQCRQ amp oldid 1173369683, wikipedia, wiki, book, books, library,
