H3F3B (gene)

H3 histone, family 3B (H3.3B)
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2L43, 3ASK, 3ASL, 3AV2, 3JVK, 3MUK, 3MUL, 3QL9, 3QLA, 3QLC, 3WTP, 4GNE, 4GNF, 4GNG, 4GU0, 4GUR, 4GUS, 4GY5, 4H9N, 4H9O, 4H9P, 4H9Q, 4H9R, 4H9S, 4HGA, 4L58, 4N4I, 4O62, 4QQ4, 4TMP, 4U7T, 4W5A
Identifiers
Symbols	H3F3B ; H3.3B
External IDs	OMIM: 601058 HomoloGene: 134170 GeneCards: H3F3B Gene
Gene ontology Molecular function • RNA polymerase II core promoter sequence-specific DNA binding • RNA polymerase II distal enhancer sequence-specific DNA binding • protein binding • nucleosomal DNA binding • histone binding • protein heterodimerization activity Cellular component • nuclear chromosome • nucleosome • nuclear nucleosome • extracellular region • nucleus • nucleoplasm • protein complex • extracellular exosome Biological process • chromatin silencing at rDNA • nucleosome assembly • DNA replication-independent nucleosome assembly • small GTPase mediated signal transduction • brain development • blood coagulation • response to hormone • gene expression • positive regulation of cell growth • DNA methylation on cytosine • regulation of gene expression, epigenetic • negative regulation of gene expression, epigenetic 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
Location (UCSC)	Chr 17: 75.78 – 75.79 Mb	Chr 1: 180.8 – 180.81 Mb
PubMed search

H3 histone, family 3B (H3.3B) is a protein in humans that is encoded by the H3F3B gene.^[1]

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 poyadenylated, 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.^[2]

Clinical significance

Somatic mutations in the H3F3B gene are associated with chondroblastoma.^[3] 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.^[4]

References

1. "Entrez Gene: H3 histone, family 3B (H3.3B)". Retrieved 2013-05-30.
2. 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.
3. 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.
4. "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.