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; OMA:H3-3B - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	75,785,893 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	180,641,508 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; trigeminal ganglion; ; lactiferous duct; ; caput epididymis; ; lower lobe of lung; ; tail of epididymis; ; left testis; ; male germ cell; ; right testis;
	Top expressed in
	ganglionic eminence; ; neural tube; ; mesencephalon; ; granulocyte; ; ventricular zone; ; thymus; ; lip; ; bone marrow; ; ileum; ; epiblast;
	More reference expression data
	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
	3021
	15078
	ENSG00000132475
	ENSMUSG00000060743
	P84243
	P84244
	NM_005324
	NM_008210
	NP_005315
	NP_032236; NP_032237
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132475 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000060743 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "H3-3A - Histone H3.3 - Homo sapiens (Human) - H3-3A gene & protein". www.uniprot.org. Retrieved 30 May 2022.
^ "Entrez Gene: H3 histone, family 3B (H3.3B)". Retrieved 2013-05-30.
^ 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.
^ 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.
^ "H3F3B De novo mutations of H3F3B". Archived from the original on 2016-03-04. Retrieved 2015-10-09.

External links

"H3F3B De novo mutations of H3F3B". Archived from the original on 2016-03-04. Retrieved 2015-10-09. – An ongoing effort to link individuals with H3F3B genetic mutations with researchers who are currently studying this condition.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132475 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[uniprot-5] "H3-3A - Histone H3.3 - Homo sapiens (Human) - H3-3A gene & protein". www.uniprot.org. Retrieved 30 May 2022.

[entrez-6] "Entrez Gene: H3 histone, family 3B (H3.3B)". Retrieved 2013-05-30.

[PMID8586426-7] 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.

[pmid24162739-8] 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.

[h3f3b-9] "H3F3B De novo mutations of H3F3B". Archived from the original on 2016-03-04. Retrieved 2015-10-09.

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