H2AFB1

Histone H2A-Bbd type 1 also known as H2A Barr body-deficient is a histone protein variant that in humans is encoded by the H2AFB1 gene (H2A histone family, member B1).

H2AB1
Identifiers
Aliases	H2AB1, H2A.Bbd, H2A histone family member B1, H2A.B, H2A.B variant histone 1, H2AFB1, H2A.B.2
External IDs	MGI: 3644980 HomoloGene: 129517 GeneCards: H2AB1
Gene location (Human) Chr. X chromosome (human) Band Xq28 Start 154,884,972 bp End 154,885,558 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X E1 Start 115,590,875 bp End 115,591,222 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence blood duodenum bone marrow renal cortex superior frontal gyrus right lobe of liver smooth muscle tissue lymph node thymus Top expressed in spleen thymus lung More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein heterodimerization activity Cellular component nucleosome nucleus chromosome Biological process nucleosome assembly mRNA processing chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 474382 624153 Ensembl ENSG00000274183 ENSMUSG00000082482 UniProt P0C5Y9 S4R1M3 RefSeq (mRNA) NM_001017990 NM_001281530 RefSeq (protein) NP_001017990 NP_001268459 Location (UCSC) Chr X: 154.88 – 154.89 Mb Chr X: 115.59 – 115.59 Mb PubMed search
Wikidata
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Function

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Chadwick BP, Willard HF (2001). "A Novel Chromatin Protein, Distantly Related to Histone H2a, Is Largely Excluded from the Inactive X Chromosome". J. Cell Biol. 152 (2): 375–84. doi:10.1083/jcb.152.2.375. PMC 2199617. PMID 11266453.
• Bao Y, Konesky K, Park YJ, et al. (2004). "Nucleosomes containing the histone variant H2A.Bbd organize only 118 base pairs of DNA". EMBO J. 23 (16): 3314–24. doi:10.1038/sj.emboj.7600316. PMC 514500. PMID 15257289.
• Naylor JA, Buck D, Green P, et al. (1995). "Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions". Hum. Mol. Genet. 4 (7): 1217–24. doi:10.1093/hmg/4.7.1217. PMID 8528212.
• Ioudinkova ES, Barat A, Pichugin A, Markova E, Sklyar I, Pirozhkova I, Robin C, Lipinski M, Ogryzko V, Vassetzky YS, Razin SV (2012). "Distinct distribution of ectopically expressed histone variants H2A.Bbd and MacroH2A in open and closed chromatin domains". PLOS ONE. 7 (10): e47157. Bibcode:2012PLoSO...747157I. doi:10.1371/journal.pone.0047157. PMC 3484066. PMID 23118866.
• Tolstorukov MY, Goldman JA, Gilbert C, Ogryzko V, Kingston RE, Park PJ (August 2012). "Histone variant H2A.Bbd is associated with active transcription and mRNA processing in human cells". Mol. Cell. 47 (4): 596–607. doi:10.1016/j.molcel.2012.06.011. PMC 3708478. PMID 22795134.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.