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Aliases & Descriptions for H2AFY
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases H2A.y 2 , 3 H2A/y 2 , 3 H2AF12M 2 H2AFJ 2 MACROH2A1 3 MACROH2A1.1 2 mH2A1 2 , 3 macroH2A1.2 1 , 2
Descriptions H2A histone family, member Y 2 Histone macroH2A1 3 Medulloblastoma antigen MU-MB-50.205 3 histone macroH2A1.1 2 histone macroH2A1.2 2
Search outside databases for aliases for H2AFY genePrevious GC identifers: GC05M134322 GC05M135237 GC05M134700 GC05M134746
Summaries for H2AFY (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for H2AFY : Histones are basic nuclear proteins that are responsible for the nucleosome structure of thechromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped arounda histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). Thechromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNAbetween the nucleosomes to form higher order chromatin structures. This gene encodes a member ofthe histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where itrepresses transcription and participates in stable X chromosome inactivation. Alternative splicingresults in multiple transcript variants encoding different isoforms. [provided by RefSeq] UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367 Function : Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where itrepresses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNAaccessibility to the cellular machineries which require DNA as a template. Histones thereby play acentral 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 remodelingSWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which inducesan hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-riboseand O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation
Gene Wiki entry for H2AFY
Genomic Location for H2AFY
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the H2AFY gene Entrez Gene cytogenetic band: 5q31.3-q32 Ensembl cytogenetic band: 5q31.1 HGNC cytogenetic band: 5q31.1 H2AFY Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05M134697:
(about GC identifiers )
Start:
134,697,970 bp from pter
End:
134,763,476 bp from pter
Size:
65,507 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000005.8 NT_034772.5 Proteins for H2AFY
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367 (See
protein sequence )Recommended Name: Core histone macro-H2A.1 Size : 372 amino acids; 39617 Da
Subunit : The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. Interacts with SPOP. Part of acomplex consisting of H2AFY, CUL3 and SPOP. Interacts with HDAC1 and HDAC2 (By similarity)
Subcellular location : Nucleus. Note=Enriched in inactive X chromosome chromatin and insenescence-associated heterochromatin
Miscellaneous : The number of individuals with antibodies against this antigen is 2-fold higher inpediatric patients with cancer compared to healthy controls
PDB structures from and Proteopedia : 1U35 (3D)
 1ZR3 (3D)
 1ZR5 (3D)
 2F8N (3D)
 2FXK (3D)
 
Secondary accessions : O75377 Q503A8 Q7Z5E3 Q96D41 Q9H8P3 Q9UP96Alternative splicing : 2 isoforms : O75367-1 O75367-2
Post-translational modifications:
Monoubiquitinated at either Lys-116 or Lys-117. May also be polyubiquitinated. Ubiquitination ismediated by the CUL3/SPOP E3 complex and does not promote proteasomal degradation. Instead, it isrequired for enrichment in inactive X chromosome chromatin1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_001035248.1 NP_004884.1 NP_613075.1 NP_613258.2 ENSEMBL proteins: ENSP00000302572 ENSP00000353806 ENSP00000310169 ENSP00000378410 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): H2AFY 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for H2AFY: Assays for H2AFY:
Protein
Domains/ Families for H2AFY(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O75367 ProtoNet protein and cluster: O75367
2 Blocks protein families : IPB002119 Histone H2A IPB002589 Protein of unknown function Appr-1 UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367 Similarity : Contains 1 histone H2A domainSimilarity : Contains 1 Macro domain
Gene Function for H2AFY
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_138609 Applied Biosystems Silencer ® siRNAs for H2AFY Sigma-Aldrich siRNA for H2AFY Sigma-Aldrich shRNA for H2AFY Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_001040158                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_001040158                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_001040158  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_138610 UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367 Function : Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where itrepresses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNAaccessibility to the cellular machineries which require DNA as a template. Histones thereby play acentral 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 remodelingSWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which inducesan hypoacetylated state of chromatin. In addition, isoform 1, but not isoform 2, binds ADP-riboseand O-acetyl-ADP-ribose, and may be involved in ADP-ribose-mediated chromatin modulation
Genatlas biochemistry entry for H2AFY :core histone family H2A,replacement subtype replication independent protein,species H2A-Z
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for H2afy) :1 Gene Ontology (GO) molecular function term (links to tree view) :
About this table
Pathways & Interactions for H2AFY
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for H2AFY 5/8 Interacting proteins for H2AFY (O75367 2 ENSP00000353806 3 ) via UniProtKB, MINT, and/or STRING (see all 8
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for H2AFY (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for H2AFY
Transcripts for H2AFY(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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siRNAs from Applied Biosystems ,
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shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_138609 Sigma-Aldrich siRNA for H2AFY Sigma-Aldrich shRNA for H2AFY Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001040158 NM_004893 NM_138609 NM_138610
REFSEQ mRNAs for H2AFY gene (4 alternative transcripts): NM_001040158.1 NM_004893.2 NM_138609.2 NM_138610.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001040158 NM_004893 NM_138609 NM_138610
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_001040158                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_001040158                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_001040158  
Additional cDNA sequence: AK092789.1 BC045570.1
24/47 DOTS entries (see all 47
): DT.100840236 DT.75173091 DT.92460030 DT.40275695 DT.119946 DT.444170 DT.40115725 DT.100887457 DT.95095529 DT.92337776 DT.119945 DT.101986415 DT.100887453 DT.97762941 DT.97860304 DT.40235411 DT.92460019 DT.100887462 DT.100887463 DT.120802211 DT.92460032 DT.91675072 DT.92460020 DT.120802203
10 AceView cDNA sequences :BM684468 AI192048 AA353890 CF145353 BC045570 BM930971 AK092789 BI560542 BE222348 BG720657
highest scoring ESTs for H2AFY :AF054174 AA353890 AV738921 BC013331 BF214824 BF241778 BG282964 BG497635 BG528972 BG720657
Unigene Clusters for H2AFY: H2A histone family, member Y Hs.420272 [show with all ESTs ] , Hs.599225 [show with all ESTs ] Unigene Representative Sequences: AB209490 , AK092789 GeneLoc Exon Structure 5/23 Alternative Splicing Database (ASD) splice patterns (SP) for H2AFY (see all 23
) 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 :               -                           -       -   -   -  
ExUns: 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14 SP1 :   -                 SP2 :   -                 SP3 :   -                 SP4 : -                   SP5 : -   -                
About this scheme ECgene alternative splicing isoforms for H2AFY 4 Ensembl transcripts including schematic representations : ENST00000304332
ENST00000360597
ENST00000312469
ENST00000394958
Expression for H2AFY
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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H2AFY expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for H2AFY 1 / 2 / 3
12 probe-sets matching H2AFY gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene clusters: Hs.420272 Hs.599225 Expression variation in blood from EXPOLDB for H2AFY
UniProtKB/Swiss-Prot: H2AY_HUMAN, O75367 Tissue specificity : Ubiquitous
Orthologs for H2AFY
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for H2AFY gene from 5/8 species (see all 8
)
About this table Species with no ortholog for H2AFY ENSEMBL Gene Tree for H2AFY Paralogs for H2AFY (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for H2AFY gene H2AFY2 2 H2AFV 2 H2AFZ 2
SNPs/Variants for H2AFY (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for H2AFY (up to first 250kb)
Disorders & Mutations for H2AFY
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 610054 Human Genome Epidemiology Navigator: H2AFY (1 document)
Medical News for H2AFY (Possibly Related Articles in
Doctor's Guide )
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--
Publications for H2AFY (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/40 PubMed articles for H2AFY gene (see all 40
): Isolation of cDNA clones encoding human histone macroH2A1 subtypes. (PubMed id 9714746) 1, 2, 3, 4 Lee Y....Choe I.S. (1998) Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PubMed id 9653160) 2, 3, 4 Mao M....Chen Z. (1998) Mapping post-translational modifications of the histone variant MacroH2A1 using tandem mass spectrometry. (PubMed id 16210244) 1, 3, 4 Chu F....Burlingame A.L. (2006) Splicing regulates NAD metabolite binding to histone macroH2A. (PubMed id 15965484) 1, 3, 4 Kustatscher G.... Ladurner A.G. (2005) Stable X chromosome inactivation involves the PRC1 Polycomb complex and requires histone MACROH2A1 and the CULLIN3/SPOP ubiquitin E3 ligase. (PubMed id 15897469) 1, 3, 4 Hernandez-Munoz I....van Lohuizen M. (2005) Histone macroH2A1 is concentrated in the inactive X chromosome of female mammals. (PubMed id 9634239) 1, 3, 4 Costanzi C. and Pehrson J.R. (1998) Histone variant macroH2A1.2 is mono-ubiquitinated at its histone domain. (PubMed id 16129414) 1, 3, 4 Ogawa Y.... Shibahara K. (2005) Mechanism of polymerase II transcription repression by the histone variant macroH2A. (PubMed id 16428466) 3, 4 Doyen C.-M.... Dimitrov S. (2006) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 3, 4 Olsen J.V....Mann M. (2006) The macro domain is an ADP-ribose binding module. (PubMed id 15902274) 3, 4 Karras G.I.... Ladurner A.G. (2005)
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Genome Databases showing H2AFY
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing H2AFY
(According to HUGE )
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Specialized Databases showing H2AFY (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for H2AFY (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009