H3F3A

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H3F3A
Protein H3F3A PDB 1aoi.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases H3F3A, H3.3A, H3F3, H3 histone, family 3A
External IDs MGI: 1101768 HomoloGene: 134170 GeneCards: H3F3A
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002107

NM_008211

RefSeq (protein)

NP_002098
NP_005315

NP_032236.1
NP_032237.1
NP_032237
NP_032236

Location (UCSC) Chr 1: 226.06 – 226.07 Mb Chr 11: 116.02 – 116.03 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

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.[4]

Mutation of H3F3A are also linked to certain cancers. p.Lys27Met were discovered in Diffuse Intrinsic Pontine Glioma (DIPG),[5] where they are present 65-75% of tumors and confer a worse prognosis.[6] p.Lys27Met alterations in HIST1H3B and HIST1H3C, which code for histone H3.1 have also been reported in ~10% of DIPG.[7] 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.[8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 340704Freely accessible. PMID 3031613. 
  4. ^ "Entrez Gene: H3F3A H3 histone, family 3A". 
  5. ^ 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 3288377Freely accessible. PMID 22286216. 
  6. ^ 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 3422615Freely accessible. PMID 22661320. 
  7. ^ Buczkowicz P, Hoeman C, Rakopoulos P, Pajovic S, Letourneau L, Dzamba M, et al. (May 2014). "Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations". Nature Genetics. 46 (5): 451–6. doi:10.1038/ng.2936. PMC 3997489Freely accessible. PMID 24705254. 
  8. ^ 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 3839851Freely accessible. PMID 24162739. 

Further reading[edit]