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]

HIRA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHIRA, DGCR1, TUP1, TUPLE1, histone cell cycle regulator
External IDsOMIM: 600237; MGI: 99430; HomoloGene: 48172; GeneCards: HIRA; OMA:HIRA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003325

NM_001005228
NM_010435

RefSeq (protein)

NP_003316

NP_034565

Location (UCSC)Chr 22: 19.33 – 19.45 MbChr 16: 18.7 – 18.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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 significance

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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]

Interactions

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HIRA has been shown to interact with HIST1H2BK.[11]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100084Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022702Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ a b c d "Entrez Gene: HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae)".
  9. ^ 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.
  10. ^ 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. PMC 5056990. PMID 27673562.
  11. ^ 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. PMC 109139. PMID 9710638.

Further reading

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