H3F3A

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H3 histone, family 3A
Protein H3F3A PDB 1aoi.png
PDB rendering based on 1aoi.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols H3F3A ; H3.3A; H3F3
External IDs OMIM601128 MGI1097686 HomoloGene134170 GeneCards: H3F3A Gene
Orthologs
Species Human Mouse
Entrez 3020 15078
Ensembl ENSG00000163041 ENSMUSG00000060743
UniProt P84243 P84244
RefSeq (mRNA) NM_002107 NM_008210
RefSeq (protein) NP_002098 NP_032236
Location (UCSC) Chr 1:
226.06 – 226.07 Mb
Chr 1:
180.8 – 180.81 Mb
PubMed search [1] [2]

Histone H3.3 is a protein that in humans is encoded by the H3F3A gene.[1]

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family.[2]

Mutation of H3F3A are also linked to certain cancers. p.Lys27Met were discovered in Diffuse Intrinsic Pontine Glioma (DIPG),[3] where they are present 65-75% of tumors and confer a worse prognosis.[4] p.Lys27Met alterations in HIST1H3B and HIST1H3C, which code for histone H3.1 have also been reported in ~10% of DIPG. H3F3A is also mutated in a smaller portion of pediatric and young adult high grade astrocytomas but more frequently as p.Gly34Arg/Val. Mutations in H3F3A and H3F3B are also found in chondroblastoma and giant cell tumor of bone.[5]

References[edit]

  1. ^ Wells D, Hoffman D, Kedes L (May 1987). "Unusual structure, evolutionary conservation of non-coding sequences and numerous pseudogenes characterize the human H3.3 histone multigene family". Nucleic Acids Res 15 (7): 2871–89. doi:10.1093/nar/15.7.2871. PMC 340704. PMID 3031613. 
  2. ^ "Entrez Gene: H3F3A H3 histone, family 3A". 
  3. ^ Wu G, Broniscer A, McEachron TA et al. (Jan 2012). "Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas". Nat Genet 44 (3): 251–3. doi:10.1038/ng.1102. PMC 3288377. PMID 22286216. 
  4. ^ Khuong-Quang DA, Buczkowicz P, Rakopoulos P et al. (Sep 2012). "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.". Acta Neuropathol 124 (3): 439–47. doi:10.1007/s00401-012-0998-0. PMC 3422615. PMID 22661320. 
  5. ^ Behjati S, Tarpey PS, Presneau N et al. (Dec 2013). "Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.". Nat Genet 45 (12): 1479–82. doi:10.1038/ng.2814. PMC 3839851. PMID 24162739. 

Further reading[edit]