H2AFY

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

MACROH2A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1U35, 1ZR3, 1ZR5, 2F8N, 2FXK, 3HQH, 3HSV, 3IID, 3IIF, 3IVB, 5IIT
Identifiers
Aliases	MACROH2A1, H2A.y, H2A/y, H2AF12M, H2AFJ, MACROH2A1.1, mH2A1, macroH2A1.2, H2A histone family member Y, H2AFY, macroH2A.1 histone
External IDs	OMIM: 610054; MGI: 1349392; HomoloGene: 3598; GeneCards: MACROH2A1; OMA:MACROH2A1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.1 Start 135,334,381 bp[1] End 135,399,914 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 B1 Start 56,221,432 bp[2] End 56,284,174 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in epithelium of nasopharynx monocyte mucosa of pharynx human penis trabecular bone ganglionic eminence buccal mucosa cell amniotic fluid palpebral conjunctiva lower lobe of lung Top expressed in saccule otic vesicle Rostral migratory stream otic placode internal carotid artery somite ventricular zone ganglionic eminence mandibular prominence maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein kinase binding rDNA binding protein serine/threonine kinase inhibitor activity RNA polymerase II transcription regulatory region sequence-specific DNA binding chromatin binding double-stranded methylated DNA binding protein heterodimerization activity RNA polymerase II core promoter sequence-specific DNA binding core promoter sequence-specific DNA binding DNA binding chromatin DNA binding enzyme binding protein binding nucleosomal DNA binding promoter-specific chromatin binding Cellular component extracellular exosome ESC/E(Z) complex nucleolus condensed chromosome chromosome pericentric heterochromatin nucleosome nucleus nuclear chromosome sex chromatin Barr body chromatin Biological process negative regulation of histone H3-K4 methylation regulation of ribosomal DNA heterochromatin assembly dosage compensation negative regulation of cell cycle G2/M phase transition epigenetic maintenance of chromatin in transcription-competent conformation regulation of cell growth positive regulation of keratinocyte differentiation negative regulation of protein serine/threonine kinase activity negative regulation of transcription by RNA polymerase II nucleosome assembly negative regulation of protein localization to chromosome, telomeric region negative regulation of gene expression, epigenetic negative regulation of histone H3-K27 methylation regulation of gene expression, epigenetic positive regulation of maintenance of mitotic sister chromatid cohesion establishment of protein localization to chromatin negative regulation of transcription of nucleolar large rRNA by RNA polymerase I regulation of lipid metabolic process regulation of response to oxidative stress negative regulation of response to oxidative stress positive regulation of response to oxidative stress chromatin organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9555 26914 Ensembl ENSG00000113648 ENSMUSG00000015937 UniProt O75367 Q9QZQ8 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 Mb Chr 13: 56.22 – 56.28 Mb PubMed search [3] [4]
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. 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]