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

Gene ID: 7290, updated on 5-Jul-2025
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; AllianceGenome:HGNC:4916
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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See HIRA in Genome Data Viewer
Location:
22q11.21
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (19330698..19431733, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (19707409..19808564, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr22:19262319-19262820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19262821-19263320 Neighboring gene dishevelled segment polarity protein 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19278431-19278944 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:19279055-19279239 Neighboring gene uncharacterized LOC105372859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19284079-19284580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:19284581-19285080 Neighboring gene RNA, 7SL, cytoplasmic 168, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18658 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:19418111-19418858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13460 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:19434430-19435332 Neighboring gene mitochondrial ribosomal protein L40 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene UFD1 antisense RNA 1

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

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
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
 
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within gastrulation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of HIR complex IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in PML body IEA
Inferred from Electronic Annotation
more info
 
is_active_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin IEA
Inferred from Electronic Annotation
more info
 
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 IEA
Inferred from Electronic Annotation
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 
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

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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, Q05BU9, Q8IXN2
    UniProtKB/TrEMBL
    A8K194
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    19707409..19808564 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)