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    HIST2H2AA4 histone cluster 2, H2aa4 [ Homo sapiens ]

    Gene ID: 723790, updated on 19-May-2012

    Summary

    Official Symbol
    HIST2H2AA4provided by HGNC
    Official Full Name
    histone cluster 2, H2aa4provided by HGNC
    Primary source
    HGNC:29668
    See related
    Ensembl:ENSG00000203812; Vega:OTTHUMG00000012097
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    H2A/R; HIST2H2AA3
    Summary
    Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    1q21.2
    Sequence :
    Chromosome: 1; NC_000001.10 (149822628..149823161)
    See HIST2H2AA4 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene histone cluster 2, H2bd (pseudogene) Neighboring gene uncharacterized LOC100132909 Neighboring gene histone cluster 2, H2bc (pseudogene) Neighboring gene histone cluster 2, H3a Neighboring gene histone cluster 2, H4b

    Genomic regions, transcripts, and products

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:593221 BioGRID:114929 CHD1L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:593221 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Alcoholism, organism-specific biosystem (from KEGG)
      Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
    • Alcoholism, conserved biosystem (from KEGG)
      Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
    • Amyloids, organism-specific biosystem (from REACTOME)
      Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • Deposition of New CENPA-containing Nucleosomes at the Centromere, organism-specific biosystem (from REACTOME)
      Deposition of New CENPA-containing Nucleosomes at the Centromere, organism-specific biosystemEukaryotic centromeres are marked by a unique form of histone H3, designated CENPA in humans. In human cells newly synthesized CENPA is deposited in nucleosomes at the centromere during late telophas...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic Recombination, organism-specific biosystem (from REACTOME)
      Meiotic Recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
    • Meiotic Synapsis, organism-specific biosystem (from REACTOME)
      Meiotic Synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
    • Nucleosome assembly, organism-specific biosystem (from REACTOME)
      Nucleosome assembly, organism-specific biosystemThe formation of centromeric chromatin assembly outside the context of DNA replication involves the assembly of nucleosomes containing the histone H3 variant CenH3 (also called CENP-A).
    • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
      Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
    • RNA Polymerase I Chain Elongation, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Chain Elongation, organism-specific biosystem
      RNA Polymerase I Chain Elongation
    • RNA Polymerase I Promoter Clearance, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Promoter Clearance, organism-specific biosystemPromoter clearance is one of the rate-limiting steps in Polymerase I transcription. This step is composed of three phases, promoter opening, transcription initiation and promoter escape.
    • RNA Polymerase I Promoter Opening, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Promoter Opening, organism-specific biosystemThe activity of the upstream binding factor (UBF-1) plays an important role in the regulation of rRNA synthesis. Studies reveal that phosphorylation of UBF-1 is required for its interaction with the ...
    • RNA Polymerase I Transcription, organism-specific biosystem (from REACTOME)
      RNA Polymerase I Transcription, organism-specific biosystemThe rRNA genes are transcribed by RNA polymerase I, one of three eukaryotic nuclear RNA polymerases. The polymerase is a multisubunit complex, composed of two large subunits (the most conserved porti...
    • RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystem (from REACTOME)
      RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystemTranscription by RNA Polymerase I, RNA Polymerase III and transcription from mitochondrial promoters.
    • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
      Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • Systemic lupus erythematosus, conserved biosystem (from KEGG)
      Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    nucleosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    histone H2A type 2-A
    Names
    histone H2A type 2-A
    histone H2A.2
    histone H2A/o
    histone H2A/r
    histone 2, H2aa4

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001040874.1NP_001035807.1  histone H2A type 2-A

      Status: VALIDATED

      Source sequence(s)
      AL591493
      Consensus CDS
      CCDS30849.1
      UniProtKB/Swiss-Prot
      Q6FI13
      Related
      ENSP00000358155, OTTHUMP00000013922, ENST00000369159, OTTHUMT00000033457
      Conserved Domains (1) summary
      cd00074
      Location:23120
      Blast Score: 422
      H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      149822628..149823161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      121196499..121197032, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL591493.14 CAI12565.1
    mRNA AK312163.1 BAG35097.1
    mRNA BC001629.1 None
    mRNA BC019308.1 None
    mRNA BC096705.1 AAH96705.1
    mRNA BC096739.1 AAH96739.1
    mRNA BC098171.1 AAH98171.1
    mRNA CR536525.1 CAG38762.1
    mRNA CR541872.1 CAG46670.1
    mRNA L19779.1 AAC24465.1
    other-genetic EU831480.1 ACE87167.1
    other-genetic EU831567.1 ACE86486.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6FI13.3 GenPept UniProtKB/Swiss-Prot:Q6FI13

      Supplemental Content

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