H3F3B (gene)

H3F3B

Available structures

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

H3F3B, H3.3B, H3 histone, family 3B (H3.3B)

External IDs

MGI: 1097686 HomoloGene: 134170 GeneCards: H3F3B

Gene ontology
Molecular function	• RNA polymerase II distal enhancer sequence-specific DNA binding • DNA binding • histone binding • protein binding • protein heterodimerization activity • nucleosomal DNA binding • RNA polymerase II core promoter sequence-specific DNA binding
Cellular component	• nuclear nucleosome • nucleoplasm • chromosome • protein complex • extracellular region • nuclear chromosome • nucleosome • extracellular exosome • nucleus • nuclear chromosome, telomeric region • Barr body
Biological process	• telomere organization • cellular protein metabolic process • positive regulation of gene expression, epigenetic • nucleosome assembly • blood coagulation • brain development • positive regulation of cell growth • chromatin silencing at rDNA • negative regulation of gene expression, epigenetic • response to hormone • DNA replication-independent nucleosome assembly • gene silencing by RNA • male gonad development • multicellular organism growth • single fertilization • cell 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
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_002098.1 NP_005315.1


NP_032236.1 NP_032237.1

Location (UCSC)

Chr 17: 75.78 – 75.79 Mb

Chr 1: 180.8 – 180.81 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

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

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.^[4]

Clinical significance

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

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "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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