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HIST1H2AA Gene(Protein Coding)

Histone Cluster 1 H2A Family Member A

GCID:
GC06M025726
GIFtS:
44
Genes Participants
UDN Logo

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 Metabolism of proteins and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HIST2H2AA4.

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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HIST1H2AA Gene

Promoters and enhancers for HIST1H2AA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I025726 Promoter 0.9 EPDnew 550.8 0.0 -20 0.1 NFATC3 SMAD5 L3MBTL2 ZBTB11 GTF2A2 E4F1 MTA3 POLR2A MGA GC06P025741 GC06P025742 GC06M025779 GC06M025796 HIST1H2AA HIST1H2BA PIR46369 PIR38281 PIR32162 PIR57559
GH06I026005 Enhancer 0.2 FANTOM5 4.4 -279.2 -279239 0 HIST1H1T HIST1H2AA HIST1H2BA HIST1H4G ENSG00000272558 ENSG00000272810 GC06P025915
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HIST1H2AA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HIST1H2AA gene promoter:

Genomic Locations for HIST1H2AA Gene

Genomic Locations for HIST1H2AA Gene
chr6:25,726,063-25,726,562
(GRCh38/hg38)
Size:
500 bases
Orientation:
Minus strand
chr6:25,726,291-25,726,790
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for HIST1H2AA Gene

Proteins for HIST1H2AA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HIST1H2AA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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. Deubiquitinated by USP51 at Lys-14 and Lys-16 (H2AK13Ub and H2AK15Ub, respectively) after damaged DNA is repaired (PubMed:27083998). 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 isoforms=14 and posLast=1616

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

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 HDA 19135898
GO:0000786 nucleosome IEA --
GO:0000790 nuclear chromatin IBA --
GO:0005634 nucleus HDA,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: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

Products:

  1. Drug

(1) Drugs for HIST1H2AA Gene - From: HMDB

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

Transcripts for HIST1H2AA Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

Clone Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for HIST1H2AA Gene
mRNA expression by BioGPS for HIST1H2AA GenemRNA expression by GTEx 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

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:163047 34
  • 91 (a)
 ManyToMany
zgc:101846 34
  • 91 (a)
 ManyToMany
si:ch211-113a14.19 34 34 34 34 34 34
  • 90 (a)
 ManyToMany
zgc:154164 34 34
  • 86 (a)
 ManyToMany
zgc:195633 34 34 34
  • 85 (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

Variants for HIST1H2AA Gene

Sequence variations from dbSNP and Humsavar for HIST1H2AA Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000483009 -- 25,726,835(-) A/C upstream_transcript_variant
rs1001454938 -- 25,728,030(-) C/T upstream_transcript_variant
rs1001893748 -- 25,725,930(-) G/A downstream_transcript_variant
rs1002155579 -- 25,727,382(-) A/G upstream_transcript_variant
rs1002647352 -- 25,725,867(-) C/T downstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for HIST1H2AA

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 58
  2. DNA damage triggers nucleotide excision repair-dependent monoubiquitylation of histone H2A. (PMID: 16702407) Bergink S … Dantuma NP (Genes & development 2006) 3 4 58
  3. Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing. (PMID: 16359901) Cao R … Zhang Y (Molecular cell 2005) 3 4 58
  4. Deimination of histone H2A and H4 at arginine 3 in HL-60 granulocytes. (PMID: 15823041) Hagiwara T … Yamada M (Biochemistry 2005) 3 4 58
  5. Role of histone H2A ubiquitination in Polycomb silencing. (PMID: 15386022) Wang H … Zhang Y (Nature 2004) 3 4 58

Products for HIST1H2AA Gene

Sources for HIST1H2AA Gene

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