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Aliases for HIST1H2AE Gene

Aliases for HIST1H2AE Gene

  • Histone Cluster 1 H2A Family Member E 2 3 5
  • H2A Histone Family, Member A 2 3
  • Histone Cluster 1, H2ae 2 3
  • Histone 1, H2ae 2 3
  • Histone H2A/A 3 4
  • H2AFA 3 4
  • Histone H2A Type 1-B/E 3
  • HIST1H2AB HIST1H2AE 4
  • Histone H2A.2 4
  • Histone H2A/M 4
  • Histone H2AE 3
  • H2AFM 4
  • H2A.1 3
  • H2A.2 3
  • H2A/A 3

External Ids for HIST1H2AE Gene

Previous HGNC Symbols for HIST1H2AE Gene

  • H2AFA

Previous GeneCards Identifiers for HIST1H2AE Gene

  • GC06P026275
  • GC06P026325
  • GC06P026218
  • GC06P026160
  • GC06P026220
  • GC06P026221
  • GC06P026222
  • GC06P026228
  • GC06P026249
  • GC06P026255
  • GC06P026295
  • GC06P026265
  • GC06P026358
  • GC06P026390
  • GC06P026433

Summaries for HIST1H2AE Gene

Entrez Gene Summary for HIST1H2AE 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 is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H2AE Gene

HIST1H2AE (Histone Cluster 1 H2A Family Member E) is a Protein Coding gene. Diseases associated with HIST1H2AE include Riddle Syndrome. Among its related pathways are Mitotic Prophase and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2AB.

UniProtKB/Swiss-Prot for HIST1H2AE Gene

  • Core component of nucleosome. 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.

Gene Wiki entry for HIST1H2AE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AE Gene

Genomics for HIST1H2AE Gene

Regulatory Elements for HIST1H2AE Gene

Enhancers for HIST1H2AE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F026214 0.5 ENCODE 13 +0.6 626 6.5 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ABT1 HMGN4 HIST1H3E HIST1H2AE LOC102724851 ENSG00000277720
GH06F026232 0.7 ENCODE 12.5 +17.4 17432 4.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A ZNF2 YY1 ZNF766 ZNF143 ABT1 HMGN4 HIST1H3E HIST1H2AE HIST1H2APS4 HIST1H3G ENSG00000272462 GC06M026522 PIR62527
GH06F026193 0.2 ENCODE 12.5 -16.1 -16129 14.6 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ABT1 HMGN4 BTN3A2 HIST1H3E GUSBP2 ZNF322 HIST1H2AE HIST1H2BE LARP1P1 HIST1H2APS3
GH06F026222 0.2 ENCODE 11.9 +7.9 7946 5.1 PKNOX1 WRNIP1 ZNF493 SIN3A FEZF1 ETS1 YY1 ZNF121 ELK1 CBX5 ZNF322 GUSBP2 ABT1 HMGN4 HIST1H3E HCG11 HIST1H2AE ENSG00000261353 ENSG00000272462 HIST1H2APS3
GH06F026231 0.7 ENCODE 11.3 +14.4 14354 0.3 PKNOX1 POLR2A RFX5 HIST1H3E HIST1H2AE HIST1H2APS3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HIST1H2AE on UCSC Golden Path with GeneCards custom track

Promoters for HIST1H2AE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001494241 -320 4001 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1

Genomic Location for HIST1H2AE Gene

Chromosome:
6
Start:
26,216,920 bp from pter
End:
26,217,483 bp from pter
Size:
564 bases
Orientation:
Plus strand

Genomic View for HIST1H2AE Gene

Genes around HIST1H2AE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2AE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2AE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AE Gene

Proteins for HIST1H2AE Gene

  • Protein details for HIST1H2AE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04908-H2A1B_HUMAN
    Recommended name:
    Histone H2A type 1-B/E
    Protein Accession:
    P04908
    Secondary Accessions:
    • P28001
    • Q76P63

    Protein attributes for HIST1H2AE Gene

    Size:
    130 amino acids
    Molecular mass:
    14135 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. The octamer wraps approximately 147 bp of DNA.
    • 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. The octamer wraps approximately 147 bp of DNA.

    Three dimensional structures from OCA and Proteopedia for HIST1H2AE Gene

neXtProt entry for HIST1H2AE Gene

Post-translational modifications for HIST1H2AE Gene

  • Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
  • Deiminated on Arg-4 in granulocytes upon calcium entry.
  • Glutamine methylation at Gln-105 (H2AQ104me) by FBL is specifically dedicated to polymerase I. It is present at 35S ribosomal DNA locus and impairs binding of the FACT complex (PubMed:24352239).
  • Monoubiquitination of Lys-120 (H2AK119Ub) by RING1, TRIM27 and RNF2/RING2 complex gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. It is involved in the initiation of both imprinted and random X inactivation. Ubiquitinated H2A is enriched in inactive X chromosome chromatin. Ubiquitination of H2A functions downstream of methylation of Lys-27 of histone H3 (H3K27me). H2AK119Ub by RNF2/RING2 can also be induced by ultraviolet and may be involved in DNA repair. Monoubiquitination of Lys-120 (H2AK119Ub) by TRIM27 may promote transformation of cells in a number of breast cancers (PubMed:25470042). Following DNA double-strand breaks (DSBs), it is ubiquitinated through Lys-63 linkage of ubiquitin moieties by the E2 ligase UBE2N and the E3 ligases RNF8 and RNF168, leading to the recruitment of repair proteins to sites of DNA damage. Ubiquitination at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) in response to DNA damage is initiated by RNF168 that mediates monoubiquitination at these 2 sites, and Lys-63-linked ubiquitin are then conjugated to monoubiquitin; RNF8 is able to extend Lys-63-linked ubiquitin chains in vitro. H2AK119Ub and ionizing radiation-induced Lys-63-linked ubiquitination (H2AK13Ub and H2AK15Ub) are distinct events.
  • Phosphorylation on Ser-2 (H2AS1ph) is enhanced during mitosis. Phosphorylation on Ser-2 by RPS6KA5/MSK1 directly represses transcription. Acetylation of H3 inhibits Ser-2 phosphorylation by RPS6KA5/MSK1. Phosphorylation at Thr-121 (H2AT120ph) by VPRBP is present in the regulatory region of many tumor suppresor genes and down-regulates their transcription.
  • Symmetric dimethylation on Arg-4 by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage.
  • Ubiquitination at Lys 14 and Lys 16
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2AE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AE Gene

Domains & Families for HIST1H2AE Gene

Gene Families for HIST1H2AE Gene

Protein Domains for HIST1H2AE Gene

Suggested Antigen Peptide Sequences for HIST1H2AE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04908

UniProtKB/Swiss-Prot:

H2A1B_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST1H2AE: view

Function for HIST1H2AE Gene

Molecular function for HIST1H2AE Gene

UniProtKB/Swiss-Prot Function:
Core component of nucleosome. 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.

Gene Ontology (GO) - Molecular Function for HIST1H2AE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS,IBA 6647026
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2AE: view
genes like me logo Genes that share phenotypes with HIST1H2AE: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AE Gene

Localization for HIST1H2AE Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AE Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HIST1H2AE Gene COMPARTMENTS Subcellular localization image for HIST1H2AE gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HIST1H2AE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IDA 16319397
GO:0005694 chromosome IEA --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with HIST1H2AE: view

Pathways & Interactions for HIST1H2AE Gene

SuperPathways for HIST1H2AE Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
2 Cellular Senescence
3 Chromosome Maintenance
4 Cell Cycle, Mitotic
.60
5 Chromatin organization
genes like me logo Genes that share pathways with HIST1H2AE: view

Gene Ontology (GO) - Biological Process for HIST1H2AE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006342 chromatin silencing IBA --
GO:0008285 negative regulation of cell proliferation IMP 23956221
genes like me logo Genes that share ontologies with HIST1H2AE: view

No data available for SIGNOR curated interactions for HIST1H2AE Gene

Transcripts for HIST1H2AE Gene

mRNA/cDNA for HIST1H2AE Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HIST1H2AE Gene

Histone cluster 1, H2ae:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2AE Gene

No ASD Table

Relevant External Links for HIST1H2AE Gene

GeneLoc Exon Structure for
HIST1H2AE
ECgene alternative splicing isoforms for
HIST1H2AE

Expression for HIST1H2AE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIST1H2AE Gene

mRNA differential expression in normal tissues according to GTEx for HIST1H2AE Gene

This gene is overexpressed in Whole Blood (x6.5) and Prostate (x4.8).

Protein differential expression in normal tissues from HIPED for HIST1H2AE Gene

This gene is overexpressed in Monocytes (17.3), Neutrophil (13.2), Adipocyte (10.7), Blymphocyte (10.3), and Tlymphocyte (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIST1H2AE Gene



Protein tissue co-expression partners for HIST1H2AE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AE Gene:

HIST1H2AE

SOURCE GeneReport for Unigene cluster for HIST1H2AE Gene:

Hs.121017
genes like me logo Genes that share expression patterns with HIST1H2AE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HIST1H2AE Gene

Orthologs for HIST1H2AE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIST1H2AE Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Hist1h2ai 34 16
  • 86.41 (n)
dog
(Canis familiaris)
Mammalia HIST3H2A 34
  • 85.64 (n)
rat
(Rattus norvegicus)
Mammalia Hist1h2ac 34
  • 84.87 (n)
chimpanzee
(Pan troglodytes)
Mammalia LOC748495 34
  • 83.85 (n)
cow
(Bos Taurus)
Mammalia HIST3H2A 34
  • 81.79 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9451 34
Species where no ortholog for HIST1H2AE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HIST1H2AE Gene

ENSEMBL:
Gene Tree for HIST1H2AE (if available)
TreeFam:
Gene Tree for HIST1H2AE (if available)

Paralogs for HIST1H2AE Gene

Pseudogenes.org Pseudogenes for HIST1H2AE Gene

genes like me logo Genes that share paralogs with HIST1H2AE: view

Variants for HIST1H2AE Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs112652281 -- 26,217,446(+) TTTCT(A/G)TAAAG upstream-variant-2KB, utr-variant-3-prime
rs114224033 -- 26,217,061(+) GTTGG(C/G/T)CGTGT upstream-variant-2KB, reference, synonymous-codon
rs114392222 -- 26,217,826(+) AAGTT(C/T)TAAAG downstream-variant-500B, upstream-variant-2KB
rs114698706 -- 26,216,615(+) TCGGA(A/G)CAGGA upstream-variant-2KB, reference, missense
rs115335693 -- 26,216,032(+) ATGAC(A/C)CGCGA downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2AE Gene

Variant ID Type Subtype PubMed ID
dgv5926n100 CNV gain 25217958
nsv1021294 CNV loss 25217958
nsv1023453 CNV gain 25217958
nsv428137 CNV loss 18775914

Variation tolerance for HIST1H2AE Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIST1H2AE Gene

Human Gene Mutation Database (HGMD)
HIST1H2AE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2AE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AE Gene

Disorders for HIST1H2AE Gene

MalaCards: The human disease database

(1) MalaCards diseases for HIST1H2AE Gene - From: GeneCards

Disorder Aliases PubMed IDs
riddle syndrome
  • radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HIST1H2AE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIST1H2AE
genes like me logo Genes that share disorders with HIST1H2AE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIST1H2AE Gene

Publications for HIST1H2AE Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4 64
  2. Isolation and characterization of two human H1 histone genes within clusters of core histone genes. (PMID: 1916825) Albig W. … Doenecke D. (Genomics 1991) 2 3 4 64
  3. Precise characterization of human histones in the H2A gene family by top down mass spectrometry. (PMID: 16457589) Boyne M.T. II … Kelleher N.L. (J. Proteome Res. 2006) 3 4 64
  4. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S. … Dantuma N.P. (Genes Dev. 2006) 3 4 64
  5. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T. … Yamada M. (Biochemistry 2005) 3 4 64

Products for HIST1H2AE Gene

Sources for HIST1H2AE Gene

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