H3F3B (gene)

H3-3B
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	H3-3B , H3.3B, H3 histone, family 3B (H3.3B), H3 histone family member 3B, H3.3 histone B, H3F3B, H3-3A, BRYLIB2
External IDs	OMIM: 601058 MGI: 1097686 HomoloGene: 134170 GeneCards: H3-3B
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.1 Start 75,776,434 bp [1] End 75,785,893 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 oocyte secondary oocyte trigeminal ganglion lactiferous duct caput epididymis lower lobe of lung corpus epididymis sperm pericardium vena cava Top expressed in ganglionic eminence neural tube mesencephalon thymus lip bone marrow ileum mirror esophagus uterus 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 3021 15078 Ensembl ENSG00000132475 ENSMUSG00000060743 UniProt P84243 P84244 RefSeq (mRNA) NM_005324 NM_008210 RefSeq (protein) NP_005315 NP_032236 NP_032237 Location (UCSC) Chr 17: 75.78 – 75.79 Mb Chr 1: 180.63 – 180.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Histone H3.3 is a protein that in humans is encoded by the H3-3A, and the H3-3B genes. ^{[5] [6]}

Function

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.

Gene

This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a member of the histone H3 family. Unlike most histone genes, H3F3B is not located in a cluster, but rather is isolated in the telomeric region of chromosome 17. ^[7]

Clinical significance

Somatic mutations mostly in the H3F3B gene are associated with chondroblastoma, ^[8] but some are associated with mutations in H3F3A. ^[5] A rare de novo germline mutation of the H3F3B gene (A30P) has been linked to a syndrome with a range of developmental and behavioral abnormalities including microcephaly, mild strabismus, seizure disorder, autistic continuum, hypothyroidism, global developmental delay, and low muscle tone. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000132475 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000060743 - Ensembl, 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. "H3-3A - Histone H3.3 - Homo sapiens (Human) - H3-3A gene & protein". www.uniprot.org. Retrieved 30 May 2022.
6. "Entrez Gene: H3 histone, family 3B (H3.3B)" . Retrieved 2013-05-30.
7. Albig W, Bramlage B, Gruber K, Klobeck HG, Kunz J, Doenecke D (Nov 1995). "The human replacement histone H3.3B gene (H3F3B)". Genomics. 30 (2): 264–72. doi:10.1006/geno.1995.9878. PMID   8586426.
8. Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, Wedge DC, Cooke SL, Gundem G, Davies H, Nik-Zainal S, Martin S, McLaren S, Goody V, Goodie V, Robinson B, Butler A, Teague JW, Halai D, Khatri B, Myklebost O, Baumhoer D, Jundt G, Hamoudi R, Tirabosco R, Amary MF, Futreal PA, Stratton MR, Campbell PJ, Flanagan AM (Dec 2013). "Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone". Nature Genetics. 45 (12): 1479–82. doi:10.1038/ng.2814. PMC   3839851 . PMID   24162739.
9. "H3F3B De novo mutations of H3F3B".

External links

• "H3F3B De novo mutations of H3F3B". – An ongoing effort to link individuals with H3F3B genetic mutations with researchers who are currently studying this condition.