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H2AFY

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MACROH2A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMACROH2A1, H2A.y, H2A/y, H2AF12M, H2AFJ, MACROH2A1.1, mH2A1, macroH2A1.2, H2A histone family member Y, H2AFY, macroH2A.1 histone
External IDsOMIM: 610054; MGI: 1349392; HomoloGene: 3598; GeneCards: MACROH2A1; OMA:MACROH2A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040158
NM_004893
NM_138609
NM_138610

NM_001159513
NM_001159514
NM_001159515
NM_012015

RefSeq (protein)

NP_001035248
NP_004884
NP_613075
NP_613258

NP_001152985
NP_001152986
NP_001152987
NP_036145

Location (UCSC)Chr 5: 135.33 – 135.4 MbChr 13: 56.22 – 56.28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Core histone macro-H2A.1 is a protein that in humans is encoded by the H2AFY gene.[5][6][7]

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. 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.[7] Expression of these isoforms is associated to several cancers, such as hepatocellular carcinoma.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000113648Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015937Ensembl, 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.
  5. ^ 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 (Jul 1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 8175–80. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.
  6. ^ Lee Y, Hong M, Kim JW, Hong YM, Choe YK, Chang SY, Lee KS, Choe IS (Jul 1998). "Isolation of cDNA clones encoding human histone macroH2A1 subtypes". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1399 (1): 73–7. doi:10.1016/s0167-4781(98)00098-0. PMID 9714746.
  7. ^ a b "Entrez Gene: H2AFY H2A histone family, member Y".
  8. ^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Further reading

  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Core histone macro-H2A.1