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H2A histone family, member Y
Protein H2AFY PDB 1u35.png
PDB rendering based on 1u35.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols H2AFY ; H2A.y; H2A/y; H2AF12M; H2AFJ; MACROH2A1.1; mH2A1; macroH2A1.2
External IDs OMIM610054 MGI1349392 HomoloGene3598 GeneCards: H2AFY Gene
RNA expression pattern
PBB GE H2AFY 207168 s at tn.png
PBB GE H2AFY 214501 s at tn.png
PBB GE H2AFY 214500 at tn.png
More reference expression data
Species Human Mouse
Entrez 9555 26914
Ensembl ENSG00000113648 ENSMUSG00000015937
UniProt O75367 Q9QZQ8
RefSeq (mRNA) NM_001040158 NM_001159513
RefSeq (protein) NP_001035248 NP_001152985
Location (UCSC) Chr 5:
134.67 – 134.74 Mb
Chr 13:
56.07 – 56.14 Mb
PubMed search [1] [2]

Core histone macro-H2A.1 is a protein that in humans is encoded by the H2AFY gene.[1][2][3]


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. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms.[3] Expression of these isoforms is associated to several cancers, such as hepatocellular carcinoma.[4]


  1. ^ Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z (Aug 1998). "Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proc Natl Acad Sci U S A 95 (14): 8175–80. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160. 
  2. ^ Lee Y, Hong M, Kim JW, Hong YM, Choe YK, Chang SY, Lee KS, Choe IS (Sep 1998). "Isolation of cDNA clones encoding human histone macroH2A1 subtypes". Biochim Biophys Acta 1399 (1): 73–7. doi:10.1016/s0167-4781(98)00098-0. PMID 9714746. 
  3. ^ a b "Entrez Gene: H2AFY H2A histone family, member Y". 
  4. ^ Rappa F, Greco A, Podrini C, Cappello F, Foti M, Bourgoin L, Peyrou M, Marino A, Scibetta N, Williams R, Mazzoccoli G, Federici M, Pazienza V, Vinciguerra M (2013). "Immunopositivity for histone macroH2A1 isoforms marks steatosis-associated hepatocellular carcinoma". PLoS ONE 8 (1): e54458. doi:10.1371/journal.pone.0054458. PMC 3553099. PMID 23372727. 

Further reading[edit]