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

Gene ID: 7290, updated on 13-Jan-2019

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

Genomic context

See HIRA in Genome Data Viewer
Location:
22q11.21
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (19330701..19431696, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19318221..19419247, 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 FunctionsWhat'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 BioSystems

  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • Formation of Senescence-Associated Heterochromatin Foci (SAHF), organism-specific biosystem (from REACTOME)
    Formation of Senescence-Associated Heterochromatin Foci (SAHF), organism-specific biosystemThe process of DNA damage/telomere stress induced senescence culminates in the formation of senescence associated heterochromatin foci (SAHF). These foci represent facultative heterochromatin that is...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
contributes_to nucleosome binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
DNA replication-independent nucleosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA replication-independent nucleosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
chromatin silencing at centromere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gastrulation IEA
Inferred from Electronic Annotation
more info
 
mitotic sister chromatid segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of chromatin silencing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
HIR complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
PML body IEA
Inferred from Electronic Annotation
more info
 
chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
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

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.

Genomic

  1. NG_009231.2 RefSeqGene

    Range
    5001..105996
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    19330701..19431696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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