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Aliases for H2AFY Gene

Aliases for H2AFY Gene

  • H2A Histone Family Member Y 2 3 5
  • Medulloblastoma Antigen MU-MB-50.205 3 4
  • H2A Histone Family, Member Y 2 3
  • Histone MacroH2A1 3 4
  • Histone H2A.Y 3 4
  • H2A/Y 3 4
  • MH2A1 3 4
  • Histone MacroH2A1.1 3
  • Histone MacroH2A1.2 3
  • MACROH2A1.1 3
  • MacroH2A1.2 3
  • MACROH2A1 4
  • H2AF12M 3
  • H2A.Y 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 replication-independent histone that is 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, Oct 2015]

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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Chromatin Regulation / Acetylation. GO annotations related to this gene include protein heterodimerization activity and protein kinase binding. An important paralog of this gene is H2AFB1.

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

Enhancers for H2AFY Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around H2AFY on UCSC Golden Path with GeneCards custom track

Promoters for H2AFY Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around H2AFY on UCSC Golden Path with GeneCards custom track

Genomic Location for H2AFY Gene

Chromosome:
5
Start:
135,333,900 bp from pter
End:
135,400,147 bp from pter
Size:
66,248 bases
Orientation:
Minus strand

Genomic View for H2AFY Gene

Genes around H2AFY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H2AFY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 117, Lys 189, Lys 251, Lys 285, Lys 292, Lys 295, Lys 307, and Lys 323
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for H2AFY (H2AFY)
  • Cloud-Clone Corp. Antibodies for H2AFY

No data available for DME Specific Peptides for H2AFY Gene

Domains & Families for H2AFY Gene

Gene Families for H2AFY Gene

Suggested Antigen Peptide Sequences for H2AFY Gene

Graphical View of Domain Structure for InterPro Entry

O75367

UniProtKB/Swiss-Prot:

H2AY_HUMAN :
  • Contains 1 histone H2A domain.
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:0001046 core promoter sequence-specific DNA binding ISS --
GO:0003682 chromatin binding IEA --
GO:0019901 protein kinase binding IPI 22194607
GO:0030291 protein serine/threonine kinase inhibitor activity IMP 22194607
genes like me logo Genes that share ontologies with H2AFY: view
genes like me logo Genes that share phenotypes with H2AFY: view

Animal Models for H2AFY Gene

MGI Knock Outs for H2AFY:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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. {ECO:0000269 PubMed:15621527, ECO:0000269 PubMed:15897469, ECO:0000269 PubMed:9634239}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for H2AFY Gene COMPARTMENTS Subcellular localization image for H2AFY gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 3
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for H2AFY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001740 Barr body IDA 11331621
GO:0005634 nucleus IEA,IDA 21630459
GO:0035098 colocalizes_with ESC/E(Z) complex IDA 19734898
genes like me logo Genes that share ontologies with H2AFY: view

Pathways & Interactions for H2AFY Gene

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

Pathways by source for H2AFY Gene

1 GeneTex pathway 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:0006334 nucleosome assembly IEA,NAS 9714746
GO:0006342 chromatin silencing IBA --
GO:0007549 dosage compensation IDA 15053874
GO:0019216 regulation of lipid metabolic process IMP 25526730
GO:0051572 negative regulation of histone H3-K4 methylation IMP 25526730
genes like me logo Genes that share ontologies with H2AFY: view

No data available for SIGNOR curated interactions for H2AFY Gene

Drugs & Compounds for H2AFY Gene

No Compound Related Data Available

Transcripts for H2AFY Gene

mRNA/cDNA for H2AFY Gene

Unigene Clusters for H2AFY Gene

H2A histone family, member Y:
Representative Sequences:

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 differential expression in normal tissues according to GTEx for H2AFY Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for H2AFY Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with H2AFY: view

Protein tissue co-expression partners for H2AFY Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for H2AFY Gene

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

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
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
rs779565 -- 135,389,249(-) GGCCC(C/T)GCAGC intron-variant
rs779566 -- 135,387,877(-) ataag(A/G)tattc 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

Variation tolerance for H2AFY Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.15% of all genes are more intolerant (likely to be disease-causing)

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

(1) MalaCards diseases for H2AFY Gene - From: GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • medulloblastoma, desmoplastic
- elite association - COSMIC cancer census association via MalaCards
Search H2AFY in MalaCards View complete list of genes associated with diseases

Relevant External Links for H2AFY

Genetic Association Database (GAD)
H2AFY
Human Genome Epidemiology (HuGE) Navigator
H2AFY
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
H2AFY
genes like me logo Genes that share disorders with H2AFY: view

No data available for UniProtKB/Swiss-Prot 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 67
  2. Histone macroH2A isoforms predict the risk of lung cancer recurrence. (PMID: 19648962) Sporn J.C. … Ladurner A.G. (Oncogene 2009) 3 23
  3. A macrodomain-containing histone rearranges chromatin upon sensing PARP1 activation. (PMID: 19680243) Timinszky G. … Ladurner A.G. (Nat. Struct. Mol. Biol. 2009) 3 23
  4. A phosphorylated subpopulation of the histone variant macroH2A1 is excluded from the inactive X chromosome and enriched during mitosis. (PMID: 18227505) Bernstein E. … Allis C.D. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  5. The histone domain of macroH2A1 contains several dispersed elements that are each sufficient to direct enrichment on the inactive X chromosome. (PMID: 17570398) Nusinow D.A. … Panning B. (J. Mol. Biol. 2007) 3 23

Products for H2AFY Gene

Sources for H2AFY Gene

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