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    HIRA histone cell cycle regulator [ Homo sapiens (human) ]

    Gene ID: 7290, updated on 4-Jul-2021

    Summary

    Official Symbol
    HIRAprovided by HGNC
    Official Full Name
    histone cell cycle regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:4916
    See related
    Ensembl:ENSG00000100084 MIM:600237
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TUP1; DGCR1; TUPLE1
    Summary
    This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 43.4), bone marrow (RPKM 10.9) and 24 other tissues See more
    Orthologs
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    Genomic context

    See HIRA in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19330698..19431733, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19318221..19419256, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene clathrin heavy chain like 1 Neighboring gene keratin 18 pseudogene 62 Neighboring gene dishevelled segment polarity protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105372859 Neighboring gene RNA, 7SL, cytoplasmic 168, pseudogene Neighboring gene uncharacterized LOC105372860 Neighboring gene mitochondrial ribosomal protein L40 Neighboring gene chromosome 22 open reading frame 39

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-08-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-08-28)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of HIR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein HIRA
    Names
    DiGeorge critical region gene 1
    HIR histone cell cycle regulation defective homolog A
    TUP1-like enhancer of split protein 1
    histone regulator A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_009231.2 RefSeqGene

      Range
      4964..105999
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003325.4NP_003316.3  protein HIRA

      See identical proteins and their annotated locations for NP_003316.3

      Status: REVIEWED

      Source sequence(s)
      AC000079, AC000085, AC000092
      Consensus CDS
      CCDS13759.1
      UniProtKB/Swiss-Prot
      P54198
      Related
      ENSP00000263208.5, ENST00000263208.5
      Conserved Domains (6) summary
      COG2319
      Location:7372
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:7352
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam07569
      Location:763954
      Hira; TUP1-like enhancer of split
      pfam09453
      Location:448469
      HIRA_B; HIRA B motif
      pfam12341
      Location:727795
      Mcl1_mid; Minichromosome loss protein, Mcl1, middle region
      sd00039
      Location:1661
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19330698..19431733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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