Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HIST1H2AA Gene

Aliases for HIST1H2AA Gene

  • Histone Cluster 1, H2aa 2 3
  • H2AFR 3 4 6
  • H2A Histone Family, Member R 2 3
  • Histone 1, H2aa 2 3
  • Histone H2A/R 3 4
  • H2AA 3 6
  • Histone H2A Type 1-A 3
  • BA317E16.2 3
  • HISTH2AA 6

External Ids for HIST1H2AA Gene

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 member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Jul 2008]

GeneCards Summary for HIST1H2AA Gene

HIST1H2AA (Histone Cluster 1, H2aa) is a Protein Coding gene. Diseases associated with HIST1H2AA include riddle syndrome and hiv-1. Among its related pathways are Chromatin Regulation / Acetylation and RNA Polymerase I Promoter Opening. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is HIST1H2AM.

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

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

Genomics for HIST1H2AA Gene

Genomic Location for HIST1H2AA Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HIST1H2AA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIST1H2AA Gene

Regulatory Elements 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
    Secondary Accessions:

    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

neXtProt entry for HIST1H2AA Gene

Proteomics data for HIST1H2AA Gene at MOPED

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 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys14, Lys16, Lys96, and Lys119

Other Protein References for HIST1H2AA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HIST1H2AA Gene

Domains for HIST1H2AA Gene

Gene Families for HIST1H2AA Gene

HGNC:
  • HIST :Histones / Replication-dependent

Protein Domains for HIST1H2AA Gene

UniProtKB/Swiss-Prot:

H2A1A_HUMAN
Family:
  • Belongs to the histone H2A family.:
    • Q96QV6
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

Gene Ontology (GO) - Molecular Function for HIST1H2AA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with HIST1H2AA: view

Phenotypes for HIST1H2AA Gene

GenomeRNAi human phenotypes for HIST1H2AA:
genes like me logo Genes that share phenotypes with HIST1H2AA: view

miRNA for HIST1H2AA Gene

miRTarBase miRNAs that target HIST1H2AA

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for HIST1H2AA Gene COMPARTMENTS Subcellular localization image for HIST1H2AA gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HIST1H2AA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0005622 intracellular --
GO:0005634 nucleus IDA 21630459
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with HIST1H2AA: view

Pathways 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
2 KEGG pathways for HIST1H2AA Gene

Gene Ontology (GO) - Biological Process for HIST1H2AA Gene

None

Compounds for HIST1H2AA Gene

(1) HMDB Compounds for HIST1H2AA Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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:

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 for HIST1H2AA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (48.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HIST1H2AA Gene

SOURCE GeneReport for Unigene cluster for HIST1H2AA Gene Hs.406739

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

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 37
  • 100 (a)
OneToOne
LOC462486 36
  • 98.47 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia HIST1H2AG 36
  • 77.69 (n)
  • 93.85 (a)
dog
(Canis familiaris)
Mammalia HIST1H2AA 36
  • 81.17 (n)
  • 95.42 (a)
HIST1H2AA 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hist1h2aa 16
Hist1h2ak 36
  • 78.46 (n)
  • 92.31 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 85 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-113a14.19 37
  • 90 (a)
ManyToMany
si:ch211-113a14.19 37
  • 90 (a)
ManyToMany
si:ch211-113a14.19 37
  • 90 (a)
ManyToMany
si:ch211-113a14.19 37
  • 90 (a)
ManyToMany
si:ch211-113a14.19 37
  • 90 (a)
ManyToMany
si:ch211-113a14.19 37
  • 90 (a)
ManyToMany
zgc:101846 37
  • 91 (a)
ManyToMany
zgc:154164 37
  • 80 (a)
ManyToMany
zgc:154164 37
  • 86 (a)
ManyToMany
zgc:163047 37
  • 91 (a)
ManyToMany
zgc:195633 37
  • 90 (a)
ManyToMany
zgc:195633 37
  • 91 (a)
ManyToMany
zgc:195633 37
  • 85 (a)
ManyToMany
Species with no ortholog for HIST1H2AA:
  • 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 MAF
rs7746944 -- 25,727,948(+) GGAGC(C/T)GGAGA upstream-variant-2KB
rs9356985 -- 25,727,870(+) AAAAT(C/T)AGGTG upstream-variant-2KB
rs34067542 -- 25,727,982(+) TGCAC(A/T)ACAGC upstream-variant-2KB
rs35243936 -- 25,728,334(+) TTACT(-/G)GGTTG upstream-variant-2KB
rs35670731 -- 25,728,007(+) ACTGT(C/T)TCAAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv883488 CNV Gain 21882294

Relevant External Links for HIST1H2AA Gene

HapMap Linkage Disequilibrium report
HIST1H2AA

Disorders for HIST1H2AA Gene

(2) MalaCards Diseases for HIST1H2AA Gene

Search for HIST1H2AA Gene in MalaCards »
genes like me logo Genes that share disorders with HIST1H2AA: view

No data available for UniProtKB/Swiss-Prot for HIST1H2AA Gene

Publications for HIST1H2AA Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff W.F. … Maltais L.J. (Genomics 2002) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. Phosphorylation of histone H2A inhibits transcription on chromatin templates. (PMID: 15010469) Zhang Y. … Parvin J.D. (J. Biol. Chem. 2004) 3 4
  4. Nucleosomal histone kinase-1 phosphorylates H2A Thr 119 during mitosis in the early Drosophila embryo. (PMID: 15078818) Aihara H. … Ito T. (Genes Dev. 2004) 3 4
  5. Role of histone H2A ubiquitination in Polycomb silencing. (PMID: 15386022) Wang H. … Zhang Y. (Nature 2004) 3 4

Products for HIST1H2AA Gene

Sources for HIST1H2AA Gene

Back to Top

Content