The specific function of this protein has yet to be determined; however, it has been speculated to play a role in transcriptional regulation and/or chromatin and histone metabolism.[8]
Research done by Salomé Adam, Sophie E. Polo, and Geneviève Almouzni indicate that HIRA proteins are involved in restarting transcription after UVC damage.[9] Function of HIRA gene can be effectively examined by siRNA knockdown based on an independent validation.[10]
Clinical significanceedit
It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development.[8]
^ abcGRCh38: Ensembl release 89: ENSG00000100084 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000022702 – 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.
^Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A (Mar 1994). "Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease". Hum Mol Genet. 2 (12): 2099–107. doi:10.1093/hmg/2.12.2099. PMID 8111380.
^Lamour V, Lécluse Y, Desmaze C, Spector M, Bodescot M, Aurias A, Osley MA, Lipinski M (Sep 1995). "A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region". Hum Mol Genet. 4 (5): 791–9. doi:10.1093/hmg/4.5.791. PMID 7633437.
^Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ (Oct 1998). "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3". Nat Genet. 20 (1): 74–7. doi:10.1038/1739. PMID 9731536. S2CID 19736941.
^ abcd"Entrez Gene: HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae)".
^Adam, Salomé; Polo, Sophie E.; Almouzni, Geneviève (26 September 2013). "Transcription Recovery after DNA Damage Requires Chromatin Priming by the H3.3 Histone Chaperone HIRA". Cell. 155 (1): 94–106. doi:10.1016/j.cell.2013.08.029. PMID 24074863. S2CID 3147953.
^Munkácsy, Gyöngyi; Sztupinszki, Zsófia; Herman, Péter; Bán, Bence; Pénzváltó, Zsófia; Szarvas, Nóra; Győrffy, Balázs (2016). "Validation of RNAi Silencing Efficiency Using Gene Array Data shows 18.5% Failure Rate across 429 Independent Experiments". Molecular Therapy: Nucleic Acids. 5 (9): e366. doi:10.1038/mtna.2016.66. PMC5056990. PMID 27673562.
^Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M (September 1998). "Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA". Mol. Cell. Biol. 18 (9): 5546–56. doi:10.1128/MCB.18.9.5546. PMC109139. PMID 9710638.
Further readingedit
Lorain S, Demczuk S, Lamour V, Toth S, Aurias A, Roe BA, Lipinski M (1996). "Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22". Genome Res. 6 (1): 43–50. doi:10.1101/gr.6.1.43. PMID 8681138.
Llevadot R, Scambler P, Estivill X, Pritchard M (1997). "Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome". Mamm. Genome. 7 (12): 911–4. doi:10.1007/s003359900268. PMID 8995764. S2CID 35176001.
Lorain S, Quivy JP, Monier-Gavelle F, Scamps C, Lécluse Y, Almouzni G, Lipinski M (1998). "Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA". Mol. Cell. Biol. 18 (9): 5546–56. doi:10.1128/MCB.18.9.5546. PMC109139. PMID 9710638.
Hall C, Nelson DM, Ye X, Baker K, DeCaprio JA, Seeholzer S, Lipinski M, Adams PD (2001). "HIRA, the human homologue of yeast Hir1p and Hir2p, is a novel cyclin-cdk2 substrate whose expression blocks S-phase progression". Mol. Cell. Biol. 21 (5): 1854–65. doi:10.1128/MCB.21.5.1854-1865.2001. PMC86753. PMID 11238922.
Lorain S, Lécluse Y, Scamps C, Mattéi MG, Lipinski M (2001). "Identification of human and mouse HIRA-interacting protein-5 (HIRIP5), two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe/S proteins". Biochim. Biophys. Acta. 1517 (3): 376–83. doi:10.1016/S0167-4781(00)00300-6. PMID 11342215.
Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC442147. PMID 15231747.
Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC545604. PMID 15461802.
Gocke CB, Yu H, Kang J (2005). "Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates". J. Biol. Chem. 280 (6): 5004–12. doi:10.1074/jbc.M411718200. PMID 15561718.
Zhang R, Poustovoitov MV, Ye X, Santos HA, Chen W, Daganzo SM, Erzberger JP, Serebriiskii IG, Canutescu AA, Dunbrack RL, Pehrson JR, Berger JM, Kaufman PD, Adams PD (2005). "Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA". Dev. Cell. 8 (1): 19–30. doi:10.1016/j.devcel.2004.10.019. PMID 15621527.
Ahmad A, Kikuchi H, Takami Y, Nakayama T (2005). "Different roles of N-terminal and C-terminal halves of HIRA in transcription regulation of cell cycle-related genes that contribute to control of vertebrate cell growth". J. Biol. Chem. 280 (37): 32090–100. doi:10.1074/jbc.M501426200. PMID 16024922.
Tang Y, Poustovoitov MV, Zhao K, Garfinkel M, Canutescu A, Dunbrack R, Adams PD, Marmorstein R (2006). "Structure of a human ASF1a-HIRA complex and insights into specificity of histone chaperone complex assembly". Nat. Struct. Mol. Biol. 13 (10): 921–9. doi:10.1038/nsmb1147. PMC2933817. PMID 16980972.
hira, this, article, about, gene, other, uses, hira, disambiguation, protein, protein, that, humans, encoded, gene, this, gene, mapped, 22q11, centromeric, comt, available, structurespdbortholog, search, pdbe, rcsblist, codes2i32identifiersaliases, dgcr1, tup1. This article is about the gene For other uses see Hira disambiguation Protein HIRA is a protein that in humans is encoded by the HIRA gene 5 6 7 8 This gene is mapped to 22q11 21 centromeric to COMT 8 HIRAAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2I32IdentifiersAliasesHIRA DGCR1 TUP1 TUPLE1 histone cell cycle regulatorExternal IDsOMIM 600237 MGI 99430 HomoloGene 48172 GeneCards HIRAGene location Human Chr Chromosome 22 human 1 Band22q11 21Start19 330 698 bp 1 End19 447 450 bp 1 Gene location Mouse Chr Chromosome 16 mouse 2 Band16 A3 16 11 69 cMStart18 695 787 bp 2 End18 789 059 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inleft lobe of thyroid glandright lobe of thyroid glandganglionic eminencestromal cell of endometriumgastrocnemius muscleprefrontal cortexthymusamygdaladorsolateral prefrontal cortexhuman penisTop expressed insuperior frontal gyrusyolk saclipganglionic eminencecerebellar cortexthymusmoruladuodenumesophagusprimitive streakMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionDNA binding transcription factor activity protein binding transcription corepressor activity nucleosome binding DNA bindingCellular componentPML body extracellular exosome nucleus nucleoplasm HIR complex chromosome centromeric region protein containing complexBiological processregulation of transcription by RNA polymerase II muscle cell differentiation anatomical structure morphogenesis regulation of transcription DNA templated gastrulation osteoblast differentiation transcription DNA templated negative regulation of nucleic acid templated transcription chromatin organization mitotic sister chromatid segregationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez729015260EnsemblENSG00000100084ENSMUSG00000022702UniProtP54198Q61666RefSeq mRNA NM 003325NM 001005228NM 010435RefSeq protein NP 003316NP 034565Location UCSC Chr 22 19 33 19 45 MbChr 16 18 7 18 79 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 Interactions 4 References 5 Further readingFunction editThe specific function of this protein has yet to be determined however it has been speculated to play a role in transcriptional regulation and or chromatin and histone metabolism 8 Research done by Salome Adam Sophie E Polo and Genevieve Almouzni indicate that HIRA proteins are involved in restarting transcription after UVC damage 9 Function of HIRA gene can be effectively examined by siRNA knockdown based on an independent validation 10 Clinical significance editIt is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome and insufficient production of the gene may disrupt normal embryonic development 8 Interactions editHIRA has been shown to interact with HIST1H2BK 11 References edit a b c GRCh38 Ensembl release 89 ENSG00000100084 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022702 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 Halford S Wadey R Roberts C Daw SC Whiting JA O Donnell H Dunham I Bentley D Lindsay E Baldini A Mar 1994 Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome Shprintzen syndrome and familial congenital heart disease Hum Mol Genet 2 12 2099 107 doi 10 1093 hmg 2 12 2099 PMID 8111380 Lamour V Lecluse Y Desmaze C Spector M Bodescot M Aurias A Osley MA Lipinski M Sep 1995 A human homolog of the S cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region Hum Mol Genet 4 5 791 9 doi 10 1093 hmg 4 5 791 PMID 7633437 Magnaghi P Roberts C Lorain S Lipinski M Scambler PJ Oct 1998 HIRA a mammalian homologue of Saccharomyces cerevisiae transcriptional co repressors interacts with Pax3 Nat Genet 20 1 74 7 doi 10 1038 1739 PMID 9731536 S2CID 19736941 a b c d Entrez Gene HIRA HIR histone cell cycle regulation defective homolog A S cerevisiae Adam Salome Polo Sophie E Almouzni Genevieve 26 September 2013 Transcription Recovery after DNA Damage Requires Chromatin Priming by the H3 3 Histone Chaperone HIRA Cell 155 1 94 106 doi 10 1016 j cell 2013 08 029 PMID 24074863 S2CID 3147953 Munkacsy Gyongyi Sztupinszki Zsofia Herman Peter Ban Bence Penzvalto Zsofia Szarvas Nora Gyorffy Balazs 2016 Validation of RNAi Silencing Efficiency Using Gene Array Data shows 18 5 Failure Rate across 429 Independent Experiments Molecular Therapy Nucleic Acids 5 9 e366 doi 10 1038 mtna 2016 66 PMC 5056990 PMID 27673562 Lorain S Quivy JP Monier Gavelle F Scamps C Lecluse Y Almouzni G Lipinski M September 1998 Core histones and HIRIP3 a novel histone binding protein directly interact with WD repeat protein HIRA Mol Cell Biol 18 9 5546 56 doi 10 1128 MCB 18 9 5546 PMC 109139 PMID 9710638 Further reading editLorain S Demczuk S Lamour V Toth S Aurias A Roe BA Lipinski M 1996 Structural Organization of the WD repeat protein encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22 Genome Res 6 1 43 50 doi 10 1101 gr 6 1 43 PMID 8681138 Llevadot R Scambler P Estivill X Pritchard M 1997 Genomic organization of TUPLE1 HIRA a gene implicated in DiGeorge syndrome Mamm Genome 7 12 911 4 doi 10 1007 s003359900268 PMID 8995764 S2CID 35176001 Lorain S Quivy JP Monier Gavelle F Scamps C Lecluse Y Almouzni G Lipinski M 1998 Core histones and HIRIP3 a novel histone binding protein directly interact with WD repeat protein HIRA Mol Cell Biol 18 9 5546 56 doi 10 1128 MCB 18 9 5546 PMC 109139 PMID 9710638 Hall C Nelson DM Ye X Baker K DeCaprio JA Seeholzer S Lipinski M Adams PD 2001 HIRA the human homologue of yeast Hir1p and Hir2p is a novel cyclin cdk2 substrate whose expression blocks S phase progression Mol Cell Biol 21 5 1854 65 doi 10 1128 MCB 21 5 1854 1865 2001 PMC 86753 PMID 11238922 Lorain S Lecluse Y Scamps C Mattei MG Lipinski M 2001 Identification of human and mouse HIRA interacting protein 5 HIRIP5 two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe S proteins Biochim Biophys Acta 1517 3 376 83 doi 10 1016 S0167 4781 00 00300 6 PMID 11342215 Lehner B Sanderson CM 2004 A protein interaction framework for human mRNA degradation Genome Res 14 7 1315 23 doi 10 1101 gr 2122004 PMC 442147 PMID 15231747 Collins JE Wright CL Edwards CA Davis MP Grinham JA Cole CG Goward ME Aguado B Mallya M Mokrab Y Huckle EJ Beare DM Dunham I 2005 A genome annotation driven approach to cloning the human ORFeome Genome Biol 5 10 R84 doi 10 1186 gb 2004 5 10 r84 PMC 545604 PMID 15461802 Gocke CB Yu H Kang J 2005 Systematic identification and analysis of mammalian small ubiquitin like modifier substrates J Biol Chem 280 6 5004 12 doi 10 1074 jbc M411718200 PMID 15561718 Zhang R Poustovoitov MV Ye X Santos HA Chen W Daganzo SM Erzberger JP Serebriiskii IG Canutescu AA Dunbrack RL Pehrson JR Berger JM Kaufman PD Adams PD 2005 Formation of MacroH2A containing senescence associated heterochromatin foci and senescence driven by ASF1a and HIRA Dev Cell 8 1 19 30 doi 10 1016 j devcel 2004 10 019 PMID 15621527 Ahmad A Kikuchi H Takami Y Nakayama T 2005 Different roles of N terminal and C terminal halves of HIRA in transcription regulation of cell cycle related genes that contribute to control of vertebrate cell growth J Biol Chem 280 37 32090 100 doi 10 1074 jbc M501426200 PMID 16024922 Tang Y Poustovoitov MV Zhao K Garfinkel M Canutescu A Dunbrack R Adams PD Marmorstein R 2006 Structure of a human ASF1a HIRA complex and insights into specificity of histone chaperone complex assembly Nat Struct Mol Biol 13 10 921 9 doi 10 1038 nsmb1147 PMC 2933817 PMID 16980972 Zhang R Chen W Adams PD 2007 Molecular dissection of formation of senescence associated heterochromatin foci Mol Cell Biol 27 6 2343 58 doi 10 1128 MCB 02019 06 PMC 1820509 PMID 17242207 Retrieved from https en wikipedia org w index php title HIRA amp oldid 1190646983, wikipedia, wiki, book, books, library,
