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H2AFB1 Gene

protein-coding   GIFtS: 34

GC0XP153679
H2A histone family, member B1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for H2AFB1

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
H2A.Bbd 2, 3
Descriptions
H2A Barr body-deficient 3
H2A histone family, member B1 2
External Ids
HGNC: 225161
Entrez Gene: 4743822
UniProtKB: P0C5Y93
Ensembl: ENSG000001980827
Search outside databases for aliases for H2AFB1 gene

Previous GC identifers: GC00U917957 GC0XU900553

Summaries
for H2AFB1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for H2AFB1:
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. This gene is part of a region that is repeated three times on chromosome
X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents
the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: H2AB1_HUMAN, P0C5Y9
Function: Atypical histone H2A which can replace conventional H2A in some nucleosomes. 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. Nucleosomes containing this histone are less rigid and organize only 118 base pair of
DNA instead of 147 in classical nucleosomes. They are associated with transcriptionally active
chromatin and excluded form Barr bodies

Genomic Location
for H2AFB1

(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

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the H2AFB1 gene  

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

H2AFB1 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 X         GeneLoc Exon Structure

GeneLoc location for GC0XP153679:     (about GC identifiers)

Start:
 153,766,511 bp from pter
End:
 153,767,027 bp from pter
Size:
 517 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011726.13  

Proteins
for H2AFB1

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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)
About This Section

 UniProtKB/Swiss-Prot: H2AB1_HUMAN, P0C5Y9 (See protein sequence)
Recommended Name: Histone H2A-Bbd type 1  
Size: 115 amino acids; 12697 Da
Subunit: 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. May be incorporated into a
proportion of nucleosomes, replacing one or more H2A molecules
Subcellular location: Nucleus. Note=Associated with the active X chromosome and with autosomes,
while it is absent from the inactive X chromosome and excluded from Barr bodies
Miscellaneous: In contrast to other H2A histones, it does not contain the conserved residues that
are the target of post-translational modifications
Secondary accessions: P98176 Q5TZB2 Q6FG78 Q96PR7

REFSEQ proteins: NP_001017990.1  

ENSEMBL proteins: 
ENSP00000346450 


Human Recombinant Proteins 
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              OriGene Purified Recombinant Human Protein: H2AFB1 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000786 nucleosome IEA--
GO:0005634 nucleus IEA--
GO:0005694 chromosome IEA--
About this table

Antibodies for H2AFB1: 
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
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Search Novus for antibodies for H2AFB1

Assays for H2AFB1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
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Protein Domains/
Families
for H2AFB1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
3 InterPro domains/families:
 IPR007125 Histone_core_D
 IPR002119 Histone_H2A
 IPR009072 Histone-fold


   GeneDecks  H2AFB1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry P0C5Y9

ProtoNet protein and cluster: P0C5Y9

UniProtKB/Swiss-Prot: H2AB1_HUMAN, P0C5Y9
Domain: The docking domain is responsible for the weaker heterodimerization with H2B
Similarity: Belongs to the histone H2A family

Gene Function
for H2AFB1

(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.)
About This Section
Inhib.
RNA:		Browse Invitrogen for RNAi
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001017990

              Applied Biosystems Silencer® siRNAs for H2AFB1

              Sigma-Aldrich siRNA for H2AFB1  
                     Sigma-Aldrich shRNA for H2AFB1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001017990
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001017990
                                 untagged cDNA clone in CMV expression vector: NM_001017990 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001017990

UniProtKB/Swiss-Prot: H2AB1_HUMAN, P0C5Y9
Function: Atypical histone H2A which can replace conventional H2A in some nucleosomes. 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. Nucleosomes containing this histone are less rigid and organize only 118 base pair of
DNA instead of 147 in classical nucleosomes. They are associated with transcriptionally active
chromatin and excluded form Barr bodies

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003677 DNA binding IEA--
About this table

Pathways & Interactions
for H2AFB1

(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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Kegg Pathway  (Kegg details for H2AFB1):
 hsa05322 Systemic lupus erythematosus

   GeneDecks  H2AFB1 for the pathways selected above  
About GeneDecksing

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006334 nucleosome assembly IEA--
About this table

Drugs & Compounds
for H2AFB1

(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for H2AFB1

Transcripts
for H2AFB1

(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 Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene)
About This Section
Inhib.
RNA:		Browse Invitrogen for RNAi
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001017990

              Sigma-Aldrich siRNA for H2AFB1  
                     Sigma-Aldrich shRNA for H2AFB1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001017990  

REFSEQ mRNAs for H2AFB1 gene: 

NM_001017990.1   


              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001017990
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001017990
                                 untagged cDNA clone in CMV expression vector: NM_001017990 

Additional cDNA sequence: 

BC128034.1 CR542230.1 

1 DOTS entry:

DT.99977757 

highest scoring ESTs for H2AFB1:

NM_001017990 BC128034 CR542230 DB303349 AI191788 AA608825 

Unigene Cluster for H2AFB1:

H2A histone family, member B1
Hs.592246  [show with all ESTs]
Unigene Representative Sequence: DB303349


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000354461  

Expression
for H2AFB1

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
About This Section

H2AFB1 expression in normal and diseased human tissues

1 / 2 / 3

3 probe-sets matching H2AFB1 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

41080_at2, 3 U95-A 3 0.75 0.33 1.00 1.00 AI218431 0.40 0.13 0.30 3

214412_at2, 3 U133-A 3 1.00 0.33 -- -- AI218431 0.40 0.13 0.30 3

214412_at2 U133Plus2 3 1.00 0.33 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.592246

Orthologs
for H2AFB1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for H2AFB1 gene from 4 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
chimpanzee
(Pan troglodytes)		 LOC7416631   -- similar to H2A-Bbd 98.55(n)
96.52(a)		 741663  XM_001145032.1  XP_001145032.1 
cow
(Bos taurus)		 LOC5280061   -- similar to Histone H2A-Bbd (H2A Barr body-deficient) 72.27(n)
64.49(a)		 528006  NM_001075905.1  NP_001069373.1 
rat
(Rattus norvegicus)		 H2afb31   -- H2A histone family, member B3 61.72(n)
57.43(a)		 302783  XM_229093.2  XP_229093.2 
mouse
(Mus musculus)		 H2afb31   -- H2A histone family, member B3 61.56(n)
55.86(a)		 624957  XM_889501.2  XP_894594.1 
About this table        Species with no ortholog for H2AFB1

ENSEMBL Gene Tree for H2AFB1

Paralogs
for H2AFB1

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for H2AFB1 gene
H2AFB21 2  H2AFB31 2  

SNPs/Variants
for H2AFB1

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

  --

Disorders & Mutations
for H2AFB1

(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.)
About This Section

   --

Medical News
for H2AFB1

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for H2AFB1

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

5 PubMed articles for H2AFB1 gene:

Search for H2AFB1

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing H2AFB1

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section
Entrez Gene: 474382 HGNC: 22516 Ensembl:ENSG00000198082 euGenes: HUgn474382 ECgene: H2AFB1
H-InvDB: H2AFB1

Other Databases showing H2AFB1

(According to HUGE)
About This Section

   --

Specialized Databases showing H2AFB1

(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
NameDescription
Wikipedia http://en.wikipedia.org/wiki/Histone_H2A

Licensable Technologies
for H2AFB1

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for H2AFB1

(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



Products for H2AFB1:
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Search Novus for antibodies for H2AFB1

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