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
External IDs	OMIM: 601058 MGI: 1097686 HomoloGene: 134170 GeneCards: H3-3B
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	75,785,893 bp[1]
Gene ontology
Molecular function	• GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • DNA binding; • histone binding; • GO:0001948 protein binding; • protein heterodimerization activity; • RNA polymerase II core promoter sequence-specific DNA binding; • nucleosomal DNA binding;
Cellular component	• nuclear nucleosome; • nucleoplasm; • chromosome; • extracellular region; • nuclear chromosome; • extracellular exosome; • nuclear chromosome, telomeric region; • Barr body; • nucleosome; • cell nucleus; • macromolecular complex;
Biological process	• telomere organization; • cellular protein metabolic process; • positive regulation of gene expression, epigenetic; • blood coagulation; • positive regulation of cell growth; • chromatin silencing at rDNA; • negative regulation of gene expression, epigenetic; • DNA replication-independent nucleosome assembly; • male gonad development; • multicellular organism growth; • single fertilization; • cellular proliferation; • embryo implantation; • negative regulation of chromosome condensation; • spermatid development; • nucleus organization; • osteoblast differentiation; • pericentric heterochromatin assembly; • oogenesis; • telomeric 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

H3 histone, family 3B (H3.3B) is a protein in humans that is encoded by the H3F3B gene.[4]

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.[5]

Clinical significance

Somatic mutations in the H3F3B gene are associated with chondroblastoma.[6] 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.[7]

References

GRCh38: Ensembl release 89: ENSG00000132475 - 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.
"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".

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.

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

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: H3 histone, family 3B (H3.3B)". Retrieved 2013-05-30.

[PMID8586426-5] 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.

[pmid24162739-6] 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-7] "H3F3B De novo mutations of H3F3B".