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Aliases for HIST1H2AA Gene

Aliases for HIST1H2AA Gene

  • Histone Cluster 1 H2A Family Member A 2 3 5
  • H2A Histone Family, Member R 2 3
  • Histone Cluster 1, H2aa 2 3
  • Histone 1, H2aa 2 3
  • Histone H2A/R 3 4
  • H2AFR 3 4
  • Histone H2A Type 1-A 3
  • BA317E16.2 3
  • H2AA 3
  • TH2A 3

External Ids for HIST1H2AA Gene

Previous GeneCards Identifiers for HIST1H2AA Gene

  • GC06M025784
  • GC06M025834
  • GC06M025669

Summaries for HIST1H2AA Gene

Entrez Gene Summary for HIST1H2AA 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 contain a palindromic termination element. [provided by RefSeq, Aug 2015]

GeneCards Summary for HIST1H2AA Gene

HIST1H2AA (Histone Cluster 1 H2A Family Member A) is a Protein Coding gene. Among its related pathways are Chromatin organization and Deubiquitination. GO annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST1H2AK.

UniProtKB/Swiss-Prot for HIST1H2AA 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 HIST1H2AA Gene

Additional gene information for HIST1H2AA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIST1H2AA Gene

Genomics for HIST1H2AA Gene

Regulatory Elements for HIST1H2AA Gene

Enhancers for HIST1H2AA 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
GH06H026019 1.9 FANTOM5 ENCODE dbSUPER 9.9 -301.0 -301025 16 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ABT1 BTN2A1 BTN2A3P HMGN4 ENSG00000272462 BTN2A2 BTN3A2 ZNF322 HIST1H2APS5 NUP50P2
GH06H024925 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +792.6 792605 16 HDGF PKNOX1 FOXA2 SIN3A YBX1 GLI4 TCF12 ZNF302 ZNF143 ZNF207 ENSG00000230372 ENSG00000223623 LOC101928663 HIST1H2BPS1 HIST1H2BA NUP50P2 HIST1H2AA RIPOR2 ENSG00000272053 TDP2
GH06H026052 1.7 Ensembl ENCODE dbSUPER 9.9 -328.7 -328741 5 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A SSRP1 ABT1 ENSG00000272462 BTN2A1 HMGN4 BTN2A3P BTN2A2 HIST1H2APS5 NUP50P2 HIST1H2APS4 HIST1H2BPS1
GH06H026341 1.7 Ensembl ENCODE dbSUPER 9.9 -615.6 -615629 1 HDGF PKNOX1 MLX ARNT ARID4B SIN3A YBX1 ZNF2 ZBTB7B ZNF766 ABT1 BTN2A3P ZNF322 BTN2A2 HMGN4 BTN3A2 BTN2A1 GUSBP2 TRIM38 HIST1H2APS4
GH06H026283 1.5 ENCODE dbSUPER 9.9 -558.5 -558513 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A ABT1 BTN2A3P HMGN4 BTN2A1 LOC102724851 BTN2A2 HIST1H2APS4 HIST1H2APS5 ENSG00000271071 HIST1H2BPS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HIST1H2AA on UCSC Golden Path with GeneCards custom track

Genomic Location for HIST1H2AA Gene

Chromosome:
6
Start:
25,726,063 bp from pter
End:
25,726,562 bp from pter
Size:
500 bases
Orientation:
Minus strand

Genomic View for HIST1H2AA Gene

Genes around HIST1H2AA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIST1H2AA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIST1H2AA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AA Gene

Proteins for HIST1H2AA Gene

  • Protein details for HIST1H2AA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QV6-H2A1A_HUMAN
    Recommended name:
    Histone H2A type 1-A
    Protein Accession:
    Q96QV6

    Protein attributes for HIST1H2AA Gene

    Size:
    131 amino acids
    Molecular mass:
    14234 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.

    Three dimensional structures from OCA and Proteopedia for HIST1H2AA Gene

neXtProt entry for HIST1H2AA Gene

Post-translational modifications for HIST1H2AA 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 DCAF1 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 posLast=1414 and isoforms=16
  • Modification sites at PhosphoSitePlus

Other Protein References for HIST1H2AA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AA Gene

Domains & Families for HIST1H2AA Gene

Gene Families for HIST1H2AA Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HIST1H2AA Gene

Suggested Antigen Peptide Sequences for HIST1H2AA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QV6

UniProtKB/Swiss-Prot:

H2A1A_HUMAN :
  • Belongs to the histone H2A family.
Family:
  • Belongs to the histone H2A family.
genes like me logo Genes that share domains with HIST1H2AA: view

Function for HIST1H2AA Gene

Molecular function for HIST1H2AA 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.

Phenotypes From GWAS Catalog for HIST1H2AA Gene

Gene Ontology (GO) - Molecular Function for HIST1H2AA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2AA: view
genes like me logo Genes that share phenotypes with HIST1H2AA: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HIST1H2AA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIST1H2AA Gene

Localization for HIST1H2AA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIST1H2AA Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIST1H2AA gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H2AA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus IDA 21630459
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with HIST1H2AA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIST1H2AA Gene

Pathways & Interactions for HIST1H2AA Gene

genes like me logo Genes that share pathways with HIST1H2AA: view

Pathways by source for HIST1H2AA Gene

1 Cell Signaling Technology pathway for HIST1H2AA Gene
3 KEGG pathways for HIST1H2AA Gene

Gene Ontology (GO) - Biological Process for HIST1H2AA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006342 chromatin silencing IBA --
genes like me logo Genes that share ontologies with HIST1H2AA: view

No data available for SIGNOR curated interactions for HIST1H2AA Gene

Drugs & Compounds for HIST1H2AA Gene

(1) Drugs for HIST1H2AA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with HIST1H2AA: view

Transcripts for HIST1H2AA Gene

mRNA/cDNA for HIST1H2AA Gene

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

Unigene Clusters for HIST1H2AA Gene

Histone cluster 1, H2aa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HIST1H2AA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HIST1H2AA Gene

No ASD Table

Relevant External Links for HIST1H2AA Gene

GeneLoc Exon Structure for
HIST1H2AA
ECgene alternative splicing isoforms for
HIST1H2AA

Expression for HIST1H2AA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIST1H2AA Gene

mRNA differential expression in normal tissues according to GTEx for HIST1H2AA Gene

This gene is overexpressed in Testis (x48.3).

Protein differential expression in normal tissues from HIPED for HIST1H2AA Gene

This gene is overexpressed in Ovary (23.5), Neutrophil (12.3), and Tlymphocyte (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIST1H2AA Gene



Protein tissue co-expression partners for HIST1H2AA Gene

NURSA nuclear receptor signaling pathways regulating expression of HIST1H2AA Gene:

HIST1H2AA

SOURCE GeneReport for Unigene cluster for HIST1H2AA Gene:

Hs.406739
genes like me logo Genes that share expression patterns with HIST1H2AA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIST1H2AA Gene

Orthologs for HIST1H2AA Gene

This gene was present in the common ancestor of chordates.

Orthologs for HIST1H2AA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIST1H2AA 34
  • 100 (a)
OneToOne
LOC462486 33
  • 98.47 (n)
dog
(Canis familiaris)
Mammalia HIST1H2AA 33 34
  • 81.17 (n)
mouse
(Mus musculus)
Mammalia Hist1h2ak 33 16
  • 78.46 (n)
cow
(Bos Taurus)
Mammalia HIST1H2AG 33
  • 77.69 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 85 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:101846 34
  • 91 (a)
ManyToMany
zgc:163047 34
  • 91 (a)
ManyToMany
si:ch211-113a14.19 34 34 34 34 34 34
  • 90 (a)
ManyToMany
zgc:195633 34 34 34
  • 90 (a)
ManyToMany
zgc:154164 34 34
  • 80 (a)
ManyToMany
Species where no ortholog for HIST1H2AA 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)
  • Alicante grape (Vitis vinifera)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for HIST1H2AA Gene

ENSEMBL:
Gene Tree for HIST1H2AA (if available)
TreeFam:
Gene Tree for HIST1H2AA (if available)

Paralogs for HIST1H2AA Gene

Pseudogenes.org Pseudogenes for HIST1H2AA Gene

genes like me logo Genes that share paralogs with HIST1H2AA: view

Variants for HIST1H2AA Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AA Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000483009 -- 25,726,835(+) TGAAG(A/C)GCTGT intron-variant, upstream-variant-2KB
rs1001454938 -- 25,728,030(+) AAAAC(C/T)CCCTA intron-variant, upstream-variant-2KB
rs1001893748 -- 25,725,930(+) TGGCC(A/G)ATGGA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1002155579 -- 25,727,382(+) TGTGT(A/G)GTTTC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1002647352 -- 25,725,867(+) CTGCT(C/T)ACAAG intron-variant, downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HIST1H2AA Gene

Variant ID Type Subtype PubMed ID
esv3570813 CNV loss 25503493

Variation tolerance for HIST1H2AA Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIST1H2AA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIST1H2AA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIST1H2AA Gene

Disorders for HIST1H2AA Gene

Relevant External Links for HIST1H2AA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIST1H2AA

No disorders were found for HIST1H2AA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HIST1H2AA Gene

Publications for HIST1H2AA Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4 60
  2. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S … Dantuma NP (Genes & development 2006) 3 4 60
  3. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T … Yamada M (Biochemistry 2005) 3 4 60
  4. Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PMID: 16359901) Cao R … Zhang Y (Molecular cell 2005) 3 4 60
  5. Phosphorylation of histone H2A inhibits transcription on chromatin templates. (PMID: 15010469) Zhang Y … Parvin JD (The Journal of biological chemistry 2004) 3 4 60

Products for HIST1H2AA Gene

Sources for HIST1H2AA Gene

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