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Protein-coding gene in the species Homo sapiens
Leucine-rich repeat-containing protein 8C is a protein that in humans is encoded by the LRRC8C gene .[5] LRRC8A , LRRC8B , LRRC8D , and LRRC8E , is sometimes a subunit of the heteromer protein Volume-Regulated Anion Channel .[6] [7]
While LRRC8C is one of many proteins that can be part of VRAC, research has found that it is not as crucial to the activity of the channel in comparison to LRRC8A and LRRC8D .[8] [9] [10] LRRC8A and LRRC8D are necessary for VRAC function, other studies have found that they are not sufficient for the full range of usual VRAC activity.[11] [12] [10]
In addition to its role in VRACs, the LRRC8 protein family is also associated with agammaglobulinemia -5.[13]
References [ edit ]
^ a b c GRCh38: Ensembl release 89: ENSG00000171488 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054720 – 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 .^ "Entrez Gene: LRRC8A leucine rich repeat containing 8 family, member A" .^ Voss F, Ullrich F, Münch J (2014-05-09). "Identification of LRRC8 heteromers as an essential component of the volume-regulated anion channel VRAC" (PDF) . Science (Submitted manuscript). 344 (6184): 634–8. Bibcode :2014Sci...344..634V . doi :10.1126/science.1252826 . PMID 24790029 . S2CID 24709412 . ^ Jentsch TJ (2016-05-17). "VRACs and other ion channels and transporters in the regulation of cell volume and beyond" . Nature Reviews Molecular Cell Biology . 17 (2): 293–3017. doi :10.1038/nrm.2016.29 . ISSN 1471-0072 . PMID 27033257 . S2CID 40565653 . [permanent dead link ^ Hyzinski-García MC, Rudkouskaya A, Mongin A (2014-11-15). "LRRC8A protein is indispensable for swelling-activated and ATP-induced release of excitatory amino acids in rat astrocytes" . The Journal of Physiology . 592 (22): 4855–62. doi :10.1113/jphysiol.2014.278887 . PMC 4259531 PMID 25172945 . ^ Yamada T, Wondergem R, Morrison R (2016-10-04). "Leucine-rich repeat containing protein LRRC8A is essential for swelling-activated Cl− currents and embryonic development in zebrafish" . Physiological Reports . 4 (19): e12940. doi :10.14814/phy2.12940 . PMC 5064130 PMID 27688432 . ^ a b Planells-Cases R, Lutter D, Guyader C (2015-12-14). "Subunit composition of VRAC channels determines substrate specificity and cellular resistance to Pt-based anti-cancer drugs" . EMBO Journal . 34 (24): 2993–3008. doi :10.15252/embj.201592409 . PMC 4687416 PMID 26530471 . ^ Okada T, Islam MR, Tsiferova NA (2016-10-20). "Specific and essential but not sufficient roles of LRRC8A in the activity of volume-sensitive outwardly rectifying anion channel (VSOR)" . Channels . 11 (2): 109–120. doi :10.1080/19336950.2016.1247133 . PMC 5398601 PMID 27764579 . ^ Lutter D, Ullrich F, Lueck JC (2017-03-15). "Selective transport of neurotransmitters and –modulators by distinct volume-regulated LRRC8 anion channels" . Journal of Cell Science . 130 (6): 1122–1133. doi :10.1242/jcs.196253 PMID 28193731 . ^ Sawada A, Takihara Y, Kim JY (December 2003). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans" . Journal of Clinical Investigation . 112 (11): 1707–13. doi :10.1172/JCI18937 . PMC 281644 PMID 14660746 .
Further reading [ edit ]
Jentsch Thomas J (2016). "VRACs and other ion channels and transporters in the regulation of cell volume and beyond". Nature Reviews Molecular Cell Biology . 17 (2): 293–307. doi :10.1038/nrm.2016.29 . PMID 27033257 . S2CID 40565653 . Eggermont D, Trouet I, Carton I, et al. (2001). "Cellular function and control of volume-regulated anion channels". Cell Biochemistry and Biophysics 35 (3): 263–74. doi :10.1385/CBB:35:3:263 . PMID 11894846 . S2CID 31821726 . Mongin Alexander (2016). "Volume-regulated anion channel – a frenemy within the brain" . Pflügers Archiv . 468 (3): 421–441. doi :10.1007/s00424-015-1765-6 . PMC 4752865 PMID 26620797 . Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro" . DNA Res . 7 (1): 65–73. doi :10.1093/dnares/7.1.65 PMID 10718198 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment" . Genome Res . 13 (10): 2265–70. doi :10.1101/gr.1293003 . PMC 403697 PMID 12975309 . Sawada A, Takihara Y, Kim JY, et al. (2004). "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans" . J. Clin. Invest . 112 (11): 1707–13. doi :10.1172/JCI18937 . PMC 281644 PMID 14660746 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Kubota K, Kim JY, Sawada A, et al. (2004). "LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins". FEBS Lett . 564 (1–2): 147–52. doi :10.1016/S0014-5793(04)00332-1 . PMID 15094057 . Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9" . Nature . 429 (6990): 369–74. Bibcode :2004Natur.429..369H . doi :10.1038/nature02465 . PMC 2734081 PMID 15164053 . Smits G, Kajava AV (2004). "LRRC8 extracellular domain is composed of 17 leucine-rich repeats". Mol. Immunol . 41 (5): 561–2. doi :10.1016/j.molimm.2004.04.001 . PMID 15183935 . 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 . Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries" . DNA Res . 12 (2): 117–26. doi :10.1093/dnares/12.2.117 PMID 16303743 . Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48. doi :10.1016/j.cell.2006.09.026 PMID 17081983 . S2CID 7827573 .
