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Aliases for H2AFY Gene

Aliases for H2AFY Gene

  • H2A Histone Family, Member Y 2 3
  • MH2A1 3 4 6
  • Medulloblastoma Antigen MU-MB-50.205 3 4
  • Histone MacroH2A1 3 4
  • Histone H2A.Y 3 4
  • H2A/Y 3 4
  • Core Histone Macro-H2A.1 3
  • Histone MacroH2A1.1 3
  • Histone MacroH2A1.2 3
  • MACROH2A1.1 3
  • MacroH2A1.2 3
  • MACROH2A1 4
  • H2AF12M 3
  • H2A.Y 3
  • H2AFJ 3

External Ids for H2AFY Gene

Previous GeneCards Identifiers for H2AFY Gene

  • GC05M134322
  • GC05M135237
  • GC05M134700
  • GC05M134746
  • GC05M134697
  • GC05M129857
  • GC05M134669

Summaries for H2AFY Gene

Entrez Gene Summary for H2AFY Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for H2AFY Gene

H2AFY (H2A Histone Family, Member Y) is a Protein Coding gene. Diseases associated with H2AFY include medulloblastoma. Among its related pathways are ATF-2 transcription factor network and Chromatin Regulation / Acetylation. GO annotations related to this gene include protein heterodimerization activity and chromatin binding. An important paralog of this gene is H2AFB2.

UniProtKB/Swiss-Prot for H2AFY Gene

  • Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation. Inhibits the binding of transcription factors and interferes with the activity of remodeling SWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-ribose and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation.

Gene Wiki entry for H2AFY Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H2AFY Gene

Genomics for H2AFY Gene

Regulatory Elements for H2AFY Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for H2AFY Gene

Start:
135,333,900 bp from pter
End:
135,399,914 bp from pter
Size:
66,015 bases
Orientation:
Minus strand

Genomic View for H2AFY Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for H2AFY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H2AFY Gene

Proteins for H2AFY Gene

  • Protein details for H2AFY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75367-H2AY_HUMAN
    Recommended name:
    Core histone macro-H2A.1
    Protein Accession:
    O75367
    Secondary Accessions:
    • O75377
    • Q503A8
    • Q7Z5E3
    • Q96D41
    • Q9H8P3
    • Q9UP96

    Protein attributes for H2AFY Gene

    Size:
    372 amino acids
    Molecular mass:
    39617 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. Interacts with HDAC1 and HDAC2 (By similarity). Interacts with SPOP. Part of a complex consisting of H2AFY, CUL3 and SPOP.
    Miscellaneous:
    • The number of individuals with antibodies against this antigen is 2-fold higher in pediatric patients with cancer compared to healthy controls

    Three dimensional structures from OCA and Proteopedia for H2AFY Gene

    Alternative splice isoforms for H2AFY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for H2AFY Gene

Proteomics data for H2AFY Gene at MOPED

Post-translational modifications for H2AFY Gene

  • Monoubiquitinated at either Lys-116 or Lys-117. May also be polyubiquitinated. Ubiquitination is mediated by the CUL3/SPOP E3 complex and does not promote proteasomal degradation. Instead, it is required for enrichment in inactive X chromosome chromatin.
  • Ubiquitination at Lys116, Lys117, Lys123, Lys189, Lys251, Lys285, Lys292, Lys295, Lys307, and Lys323
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for H2AFY (H2AFY)

No data available for DME Specific Peptides for H2AFY Gene

Domains for H2AFY Gene

Gene Families for H2AFY Gene

HGNC:
  • RIH :Histones / Replication-independent

Suggested Antigen Peptide Sequences for H2AFY Gene

Graphical View of Domain Structure for InterPro Entry

O75367

UniProtKB/Swiss-Prot:

H2AY_HUMAN :
  • O75367
Domain:
  • Contains 1 histone H2A domain.
  • Contains 1 Macro domain.
genes like me logo Genes that share domains with H2AFY: view

Function for H2AFY Gene

Molecular function for H2AFY Gene

GENATLAS Biochemistry:
core histone family H2A,replacement subtype replication independent protein,species H2A-Z
UniProtKB/Swiss-Prot Function:
Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Involved in stable X chromosome inactivation. Inhibits the binding of transcription factors and interferes with the activity of remodeling SWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-ribose and O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation.

Gene Ontology (GO) - Molecular Function for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000182 rDNA binding IDA 24071584
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 23595991
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 25526730
GO:0001046 core promoter sequence-specific DNA binding ISS --
GO:0003677 DNA binding NAS 9714746
genes like me logo Genes that share ontologies with H2AFY: view

Phenotypes for H2AFY Gene

genes like me logo Genes that share phenotypes with H2AFY: view

Animal Models for H2AFY Gene

MGI Knock Outs for H2AFY:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for H2AFY Gene

Localization for H2AFY Gene

Subcellular locations from UniProtKB/Swiss-Prot for H2AFY Gene

Nucleus. Chromosome. Note=Enriched in inactive X chromosome chromatin and in senescence-associated heterochromatin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for H2AFY Gene COMPARTMENTS Subcellular localization image for H2AFY gene
Compartment Confidence
nucleus 5
mitochondrion 3
cytosol 2

Gene Ontology (GO) - Cellular Components for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 18936163
GO:0000786 nucleosome NAS 9714746
GO:0000790 nuclear chromatin IDA 19734898
GO:0000793 condensed chromosome IEA --
GO:0001739 sex chromatin TAS 19486527
genes like me logo Genes that share ontologies with H2AFY: view

Pathways for H2AFY Gene

genes like me logo Genes that share pathways with H2AFY: view

Pathways by source for H2AFY Gene

1 Cell Signaling Technology pathway for H2AFY Gene
1 BioSystems pathway for H2AFY Gene
2 KEGG pathways for H2AFY Gene

Gene Ontology (GO) - Biological Process for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 19734898
GO:0001558 NOT regulation of cell growth IGI 24071584
GO:0006334 nucleosome assembly NAS 9714746
GO:0007549 dosage compensation IDA 15053874
GO:0016568 chromatin modification IEA --
genes like me logo Genes that share ontologies with H2AFY: view

Transcripts for H2AFY Gene

Unigene Clusters for H2AFY Gene

H2A histone family, member Y:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for H2AFY

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for H2AFY Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - - - - -
SP13: - -
SP14: - - - - - - -
SP15: - - - -
SP16: -
SP17: - -
SP18: - - - - -
SP19: - - - -
SP20: - -
SP21: -
SP22:
SP23: - - - - -

ExUns: 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14
SP1: -
SP2: -
SP3: -
SP4: -
SP5: - -
SP6: -
SP7: -
SP8: -
SP9:
SP10: - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for H2AFY Gene

GeneLoc Exon Structure for
H2AFY
ECgene alternative splicing isoforms for
H2AFY

Expression for H2AFY Gene

mRNA expression in normal human tissues for H2AFY Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for H2AFY Gene

This gene is overexpressed in Whole Blood (4.9).

Protein differential expression in normal tissues for H2AFY Gene

This gene is overexpressed in Retina (8.2) and Tlymphocyte (7.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for H2AFY Gene

SOURCE GeneReport for Unigene cluster for H2AFY Gene Hs.420272

mRNA Expression by UniProt/SwissProt for H2AFY Gene

O75367-H2AY_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with H2AFY: view

Expression partners for H2AFY Gene

In Situ Assay Products

Orthologs for H2AFY Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for H2AFY Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia H2AFY 35
  • 93.44 (n)
  • 99.46 (a)
H2AFY 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia H2AFY 35
  • 93.73 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia H2afy 35
  • 90.68 (n)
  • 98.39 (a)
H2afy 16
H2afy 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia H2AFY 35
  • 99.91 (n)
  • 100 (a)
H2AFY 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia H2afy 35
  • 89.94 (n)
  • 98.38 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia H2AFY 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves H2AFY 35
  • 85.39 (n)
  • 97.04 (a)
H2AFY 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia H2AFY 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia h2afy 35
  • 75.88 (n)
  • 85.64 (a)
Str.9088 35
zebrafish
(Danio rerio)
Actinopterygii h2afy 35
  • 70.7 (n)
  • 73.8 (a)
H2AFY (1 of 16) 36
  • 63 (a)
OneToMany
H2AFY (10 of 16) 36
  • 62 (a)
OneToMany
H2AFY (11 of 16) 36
  • 62 (a)
OneToMany
H2AFY (12 of 16) 36
  • 62 (a)
OneToMany
H2AFY (13 of 16) 36
  • 62 (a)
OneToMany
H2AFY (14 of 16) 36
  • 63 (a)
OneToMany
H2AFY (15 of 16) 36
  • 62 (a)
OneToMany
H2AFY (16 of 16) 36
  • 62 (a)
OneToMany
H2AFY (2 of 16) 36
  • 63 (a)
OneToMany
H2AFY (3 of 16) 36
  • 62 (a)
OneToMany
H2AFY (4 of 16) 36
  • 63 (a)
OneToMany
H2AFY (5 of 16) 36
  • 63 (a)
OneToMany
H2AFY (6 of 16) 36
  • 62 (a)
OneToMany
H2AFY (7 of 16) 36
  • 61 (a)
OneToMany
H2AFY (8 of 16) 36
  • 63 (a)
OneToMany
H2AFY (9 of 16) 36
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta His2A:CG31618 36
  • 64 (a)
OneToMany
His2A:CG33808 36
  • 64 (a)
OneToMany
His2A:CG33814 36
  • 64 (a)
OneToMany
His2A:CG33817 36
  • 64 (a)
OneToMany
His2A:CG33820 36
  • 64 (a)
OneToMany
His2A:CG33823 36
  • 64 (a)
OneToMany
His2A:CG33826 36
  • 64 (a)
OneToMany
His2A:CG33829 36
  • 64 (a)
OneToMany
His2A:CG33832 36
  • 64 (a)
OneToMany
His2A:CG33835 36
  • 64 (a)
OneToMany
His2A:CG33838 36
  • 64 (a)
OneToMany
His2A:CG33841 36
  • 64 (a)
OneToMany
His2A:CG33844 36
  • 64 (a)
OneToMany
His2A:CG33847 36
  • 64 (a)
OneToMany
His2A:CG33850 36
  • 64 (a)
OneToMany
His2A:CG33853 36
  • 64 (a)
OneToMany
His2A:CG33856 36
  • 64 (a)
OneToMany
His2A:CG33859 36
  • 64 (a)
OneToMany
His2A:CG33862 36
  • 64 (a)
OneToMany
His2A:CG33865 36
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea his-12 36
  • 63 (a)
OneToMany
his-16 36
  • 63 (a)
OneToMany
his-19 36
  • 63 (a)
OneToMany
his-21 36
  • 63 (a)
OneToMany
his-3 36
  • 63 (a)
OneToMany
his-30 36
  • 63 (a)
OneToMany
his-33 36
  • 63 (a)
OneToMany
his-35 36
  • 62 (a)
OneToMany
his-43 36
  • 63 (a)
OneToMany
his-47 36
  • 63 (a)
OneToMany
his-51 36
  • 63 (a)
OneToMany
his-53 36
  • 63 (a)
OneToMany
his-57 36
  • 56 (a)
OneToMany
his-61 36
  • 63 (a)
OneToMany
his-65 36
  • 63 (a)
OneToMany
his-68 36
  • 63 (a)
OneToMany
his-7 36
  • 63 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTA1 36
  • 59 (a)
OneToMany
HTA2 36
  • 59 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for H2AFY:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for H2AFY Gene

ENSEMBL:
Gene Tree for H2AFY (if available)
TreeFam:
Gene Tree for H2AFY (if available)

Paralogs for H2AFY Gene

Paralogs for H2AFY Gene

genes like me logo Genes that share paralogs with H2AFY: view

Variants for H2AFY Gene

Sequence variations from dbSNP and Humsavar for H2AFY Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs703253 -- 135,394,830(-) TCTAC(C/T)GGGTG intron-variant
rs703254 -- 135,394,553(-) GGGAG(A/T)TTGTG intron-variant
rs779562 -- 135,393,832(-) TTGGA(A/G)GAGTT intron-variant
rs779563 -- 135,393,207(-) CAACC(C/T)TGGGA intron-variant
rs779564 -- 135,393,177(-) AGAGT(A/C)ACAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for H2AFY Gene

Variant ID Type Subtype PubMed ID
nsv830496 CNV Gain 17160897
nsv5015 CNV Insertion 18451855

Relevant External Links for H2AFY Gene

HapMap Linkage Disequilibrium report
H2AFY

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H2AFY Gene

Disorders for H2AFY Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for H2AFY Gene in MalaCards »

(1) Diseases for H2AFY Gene including...

Relevant External Links for H2AFY

Genetic Association Database (GAD)
H2AFY
Human Genome Epidemiology (HuGE) Navigator
H2AFY
genes like me logo Genes that share disorders with H2AFY: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for H2AFY Gene

Publications for H2AFY Gene

  1. Isolation of cDNA clones encoding human histone macroH2A1 subtypes. (PMID: 9714746) Lee Y. … Choe I.S. (Biochim. Biophys. Acta 1998) 2 3 4 23
  2. Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. (PMID: 15897469) Hernandez-Munoz I. … van Lohuizen M. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  3. Splicing regulates NAD metabolite binding to histone macroH2A. (PMID: 15965484) Kustatscher G. … Ladurner A.G. (Nat. Struct. Mol. Biol. 2005) 3 4 23
  4. Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain. (PMID: 16129414) Ogawa Y. … Shibahara K. (Biochem. Biophys. Res. Commun. 2005) 3 4 23
  5. Mapping post-translational modifications of the histone variant MacroH2A1 using tandem mass spectrometry. (PMID: 16210244) Chu F. … Burlingame A.L. (Mol. Cell. Proteomics 2006) 3 4 23

Products for H2AFY Gene

Sources for H2AFY Gene

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