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

Gene ID: 7290, updated on 26-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)

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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
    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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