H3F3A

Histone H3.3 is a protein that in humans is encoded by the H3F3A and H3F3B genes.^[5] It plays an essential role in maintaining genome integrity during mammalian development.^[6]

PDBOrtholog search: PDBe RCSB

AliasesH3-3A, H3.3A, H3F3, H3 histone, family 3A, H3 histone family member 3A, H3.3 histone A, H3F3A, H3-3B

External IDsOMIM: 601128; MGI: 1097686; HomoloGene: 134170; GeneCards: H3-3A; OMA:H3-3A - orthologs

Chr.Chromosome 1 (human)^[1]

Quick facts H3-3A, Available structures ...

H3-3A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4H9O, 5BNX, 3JVK, 5DWQ, 4L58, 4TMP, 5DX0, 4H9S, 4W5A, 3AV2, 3WTP, 4HGA, 4GUS, 4GY5, 3MUK, 3QLC, 4H9Q, 4N4I, 4GU0, 4GNE, 5BNV, 2L43, 3MUL, 4H9P, 3QLA, 4QQ4, 4GNF, 4U7T, 3ASK, 4O62, 4GNG, 4GUR, 4H9N, 4H9R, 3ASL, 3QL9, 5AY8, 5JA4
Identifiers
Aliases	H3-3A, H3.3A, H3F3, H3 histone, family 3A, H3 histone family member 3A, H3.3 histone A, H3F3A, H3-3B
External IDs	OMIM: 601128; MGI: 1097686; HomoloGene: 134170; GeneCards: H3-3A; OMA:H3-3A - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.12 Start 226,061,851 bp[1] End 226,073,212 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 H4 Start 180,628,397 bp[2] End 180,641,508 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone monocyte blood endometrium rectum corpus callosum granulocyte appendix gallbladder Top expressed in ganglionic eminence neural tube mesencephalon granulocyte ventricular zone thymus lip bone marrow ileum epiblast More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding histone binding protein binding protein heterodimerization activity RNA polymerase II core promoter sequence-specific DNA binding nucleosomal DNA binding Cellular component nucleoplasm chromosome extracellular region nuclear chromosome extracellular exosome Barr body nucleosome nucleus protein-containing complex Biological process telomere organization epigenetic maintenance of chromatin in transcription-competent conformation blood coagulation positive regulation of cell growth rDNA heterochromatin assembly negative regulation of gene expression, epigenetic male gonad development multicellular organism growth single fertilization cell population proliferation embryo implantation negative regulation of chromosome condensation spermatid development nucleus organization osteoblast differentiation pericentric heterochromatin assembly oogenesis subtelomeric heterochromatin assembly spermatogenesis regulation of centromere complex assembly muscle cell differentiation nucleosome assembly brain development response to hormone regulation of gene silencing by miRNA regulation of megakaryocyte differentiation regulation of hematopoietic stem cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3020 15078 Ensembl ENSG00000163041 ENSMUSG00000060743 UniProt P84243 P84244 RefSeq (mRNA) NM_002107 NM_008210 RefSeq (protein) NP_005315 NP_032236 NP_032237 Location (UCSC) Chr 1: 226.06 – 226.07 Mb Chr 1: 180.63 – 180.64 Mb PubMed search [3] [4]
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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.^[7]

Mutation of H3F3A are also linked to certain cancers. p.Lys27Met were discovered in Diffuse Intrinsic Pontine Glioma (DIPG),^[8] where they are present 65-75% of tumors and confer a worse prognosis.^[9] p.Lys27Met alterations in HIST1H3B and HIST1H3C, which code for histone H3.1 have also been reported in ~10% of DIPG.^[10] 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.^[11]