Complement component 6 is a protein involved in the complement system. It is part of the membrane attack complex which can insert into the cell membrane and cause the cell to lyse.
People with C6 deficiency are prone to bacterial infection.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000039537 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000022181 – 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.
Davila S, Froeling FE, Tan A, et al. (2010). "New genetic associations detected in a host response study to hepatitis B vaccine". Genes Immun. 11 (3): 232–8. doi:10.1038/gene.2010.1. PMID 20237496.
Rajaraman P, Brenner AV, Butler MA, et al. (2009). "Common variation in genes related to innate immunity and risk of adult glioma". Cancer Epidemiol. Biomarkers Prev. 18 (5): 1651–8. doi:10.1158/1055-9965.EPI-08-1041. PMC2771723. PMID 19423540.
Cerhan JR, Novak AJ, Fredericksen ZS, et al. (2009). "Risk of non-Hodgkin lymphoma in association with germline variation in complement genes". Br. J. Haematol. 145 (5): 614–23. doi:10.1111/j.1365-2141.2009.07675.x. PMC2820509. PMID 19344414.
Han S, Lan Q, Park AK, et al. (2010). "Polymorphisms in innate immunity genes and risk of childhood leukemia". Hum. Immunol. 71 (7): 727–30. doi:10.1016/j.humimm.2010.04.004. PMC2967770. PMID 20438785.
Liu T, Qian WJ, Gritsenko MA, et al. (2005). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC1850943. PMID 16335952.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
Talmud PJ, Drenos F, Shah S, et al. (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC2775832. PMID 19913121.
Müller-Eberhard HJ (1988). "Molecular organization and function of the complement system". Annu. Rev. Biochem. 57: 321–47. doi:10.1146/annurev.bi.57.070188.001541. PMID 3052276.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Eid NA, Hussein AA, Elzein AM, et al. (2010). "Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring". Malar. J. 9: 119. doi:10.1186/1475-2875-9-119. PMC2877684. PMID 20459687.
Fosbrink M, Cudrici C, Tegla CA, et al. (2009). "Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells". Exp. Mol. Pathol. 86 (2): 87–94. doi:10.1016/j.yexmp.2008.12.005. PMC2699899. PMID 19162005.
Rajaraman P, Brenner AV, Neta G, et al. (2010). "Risk of meningioma and common variation in genes related to innate immunity". Cancer Epidemiol. Biomarkers Prev. 19 (5): 1356–61. doi:10.1158/1055-9965.EPI-09-1151. PMC3169167. PMID 20406964.
Ennis S, Jomary C, Mullins R, et al. (2008). "Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study". Lancet. 372 (9652): 1828–34. doi:10.1016/S0140-6736(08)61348-3. PMC5983350. PMID 18842294.
Soejima M, Tachida H, Tsuneoka M, et al. (2005). "Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection". Ann. Hum. Genet. 69 (Pt 3): 239–52. doi:10.1046/j.1529-8817.2005.00165.x. PMID 15845028.
Bulla R, Bossi F, Agostinis C, et al. (2009). "Complement production by trophoblast cells at the feto-maternal interface". J. Reprod. Immunol. 82 (2): 119–25. doi:10.1016/j.jri.2009.06.124. PMID 19665237.
Gancz D, Donin N, Fishelson Z (2009). "Involvement of the c-jun N-terminal kinases JNK1 and JNK2 in complement-mediated cell death". Mol. Immunol. 47 (2–3): 310–7. doi:10.1016/j.molimm.2009.09.016. PMID 19864026.
Parham KL, Roberts A, Thomas A, et al. (2007). "Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family". Mol. Immunol. 44 (10): 2756–60. doi:10.1016/j.molimm.2006.11.022. PMID 17257682.
Wu C, Ma MH, Brown KR, et al. (2007). "Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening". Proteomics. 7 (11): 1775–85. doi:10.1002/pmic.200601006. PMID 17474147. S2CID 22474278.
Bailey SD, Xie C, Do R, et al. (2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC2945168. PMID 20628086.
complement, component, protein, that, humans, encoded, gene, c6available, structurespdbhuman, uniprot, search, pdbe, rcsblist, codes3t5o, 4a5w, 4e0sidentifiersaliasesc6, complement, c6external, idsomim, 217050, 88233, homologene, genecards, c6gene, location, h. Complement component 6 is a protein that in humans is encoded by the C6 gene 5 C6Available structuresPDBHuman UniProt search PDBe RCSBList of PDB id codes3T5O 4A5W 4E0SIdentifiersAliasesC6 complement C6External IDsOMIM 217050 MGI 88233 HomoloGene 47 GeneCards C6Gene location Human Chr Chromosome 5 human 1 Band5p13 1Start41 142 116 bp 1 End41 261 438 bp 1 Gene location Mouse Chr Chromosome 15 mouse 2 Band15 A1 15 1 97 cMStart4 756 657 bp 2 End4 844 449 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverright ventricleright uterine tubebody of pancreasbronchial epithelial cellpancreatic ductal cellgallbladderAchilles tendonsynovial jointsubcutaneous adipose tissueTop expressed inleft lobe of liverright lung lobeleft lungleft lung lobewhite adipose tissuespleenmucosa of small intestinesubcutaneous adipose tissueduodenumskin of abdomenMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein bindingCellular componentextracellular region extracellular exosome membrane attack complexBiological processpositive regulation of activation of membrane attack complex immune system process complement activation in utero embryonic development cytolysis regulation of complement activation immune response positive regulation of angiogenesis complement activation classical pathway positive regulation of complement activation innate immune responseSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez72912274EnsemblENSG00000039537ENSMUSG00000022181UniProtP13671n aRefSeq mRNA NM 000065NM 001115131NM 016704RefSeq protein NP 000056NP 001108603n aLocation UCSC Chr 5 41 14 41 26 MbChr 15 4 76 4 84 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Complement component 6 is a protein involved in the complement system It is part of the membrane attack complex which can insert into the cell membrane and cause the cell to lyse People with C6 deficiency are prone to bacterial infection 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000039537 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022181 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 complement component 6 C6 complement C6 Homo sapiens human Gene ID 729 www ncbi nlm nih gov 24 November 2020 Retrieved 9 December 2020 Further reading editDavila S Froeling FE Tan A et al 2010 New genetic associations detected in a host response study to hepatitis B vaccine Genes Immun 11 3 232 8 doi 10 1038 gene 2010 1 PMID 20237496 Rajaraman P Brenner AV Butler MA et al 2009 Common variation in genes related to innate immunity and risk of adult glioma Cancer Epidemiol Biomarkers Prev 18 5 1651 8 doi 10 1158 1055 9965 EPI 08 1041 PMC 2771723 PMID 19423540 Cerhan JR Novak AJ Fredericksen ZS et al 2009 Risk of non Hodgkin lymphoma in association with germline variation in complement genes Br J Haematol 145 5 614 23 doi 10 1111 j 1365 2141 2009 07675 x PMC 2820509 PMID 19344414 Han S Lan Q Park AK et al 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia Hum Immunol 71 7 727 30 doi 10 1016 j humimm 2010 04 004 PMC 2967770 PMID 20438785 Liu T Qian WJ Gritsenko MA et al 2005 Human plasma N glycoproteome analysis by immunoaffinity subtraction hydrazide chemistry and mass spectrometry J Proteome Res 4 6 2070 80 doi 10 1021 pr0502065 PMC 1850943 PMID 16335952 Kimura K Wakamatsu A Suzuki Y et al 2006 Diversification of transcriptional modulation large scale identification and characterization of putative alternative promoters of human genes Genome Res 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 Talmud PJ Drenos F Shah S et al 2009 Gene centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip Am J Hum Genet 85 5 628 42 doi 10 1016 j ajhg 2009 10 014 PMC 2775832 PMID 19913121 Muller Eberhard HJ 1988 Molecular organization and function of the complement system Annu Rev Biochem 57 321 47 doi 10 1146 annurev bi 57 070188 001541 PMID 3052276 Gerhard DS Wagner L Feingold EA et al 2004 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Eid NA Hussein AA Elzein AM et al 2010 Candidate malaria susceptibility protective SNPs in hospital and population based studies the effect of sub structuring Malar J 9 119 doi 10 1186 1475 2875 9 119 PMC 2877684 PMID 20459687 Fosbrink M Cudrici C Tegla CA et al 2009 Response gene to complement 32 is required for C5b 9 induced cell cycle activation in endothelial cells Exp Mol Pathol 86 2 87 94 doi 10 1016 j yexmp 2008 12 005 PMC 2699899 PMID 19162005 Rajaraman P Brenner AV Neta G et al 2010 Risk of meningioma and common variation in genes related to innate immunity Cancer Epidemiol Biomarkers Prev 19 5 1356 61 doi 10 1158 1055 9965 EPI 09 1151 PMC 3169167 PMID 20406964 Ennis S Jomary C Mullins R et al 2008 Association between the SERPING1 gene and age related macular degeneration a two stage case control study Lancet 372 9652 1828 34 doi 10 1016 S0140 6736 08 61348 3 PMC 5983350 PMID 18842294 Soejima M Tachida H Tsuneoka M et al 2005 Nucleotide sequence analyses of human complement 6 C6 gene suggest balancing selection Ann Hum Genet 69 Pt 3 239 52 doi 10 1046 j 1529 8817 2005 00165 x PMID 15845028 Bulla R Bossi F Agostinis C et al 2009 Complement production by trophoblast cells at the feto maternal interface J Reprod Immunol 82 2 119 25 doi 10 1016 j jri 2009 06 124 PMID 19665237 Gancz D Donin N Fishelson Z 2009 Involvement of the c jun N terminal kinases JNK1 and JNK2 in complement mediated cell death Mol Immunol 47 2 3 310 7 doi 10 1016 j molimm 2009 09 016 PMID 19864026 Parham KL Roberts A Thomas A et al 2007 Prevalence of mutations leading to complete C6 deficiency C6Q0 in the Western Cape South Africa and detection of novel mutations leading to C6Q0 in an Irish family Mol Immunol 44 10 2756 60 doi 10 1016 j molimm 2006 11 022 PMID 17257682 Wu C Ma MH Brown KR et al 2007 Systematic identification of SH3 domain mediated human protein protein interactions by peptide array target screening Proteomics 7 11 1775 85 doi 10 1002 pmic 200601006 PMID 17474147 S2CID 22474278 Bailey SD Xie C Do R et al 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication DREAM study Diabetes Care 33 10 2250 3 doi 10 2337 dc10 0452 PMC 2945168 PMID 20628086 External links editComplement C6 at the U S National Library of Medicine Medical Subject Headings MeSH nbsp This article on a gene on human chromosome 5 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Complement component 6 amp oldid 1194284810, wikipedia, 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