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

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; 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: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (19330698..19431733, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (19707409..19808564, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (19318221..19419256, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIRA-mediated loading of histone variant H3.3 controls androgen-induced transcription by regulation of AR/BRD4 complex assembly at enhancers.
Title: HIRA-mediated loading of histone variant H3.3 controls androgen-induced transcription by regulation of AR/BRD4 complex assembly at enhancers.
Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.
Title: Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.
HIRA Supports Hepatitis B Virus Minichromosome Establishment and Transcriptional Activity in Infected Hepatocytes.
Title: HIRA Supports Hepatitis B Virus Minichromosome Establishment and Transcriptional Activity in Infected Hepatocytes.
Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences.
Title: Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences.
HIRA contributes to zygote formation in mice and is implicated in human 1PN zygote phenotype.
Title: HIRA contributes to zygote formation in mice and is implicated in human 1PN zygote phenotype.
DNA methylation mediated downregulation of histone H3 variant H3.3 affects cell proliferation contributing to the development of HCC.
Title: DNA methylation mediated downregulation of histone H3 variant H3.3 affects cell proliferation contributing to the development of HCC.
Dissecting regulatory pathways for transcription recovery following DNA damage reveals a non-canonical function of the histone chaperone HIRA.
Title: Dissecting regulatory pathways for transcription recovery following DNA damage reveals a non-canonical function of the histone chaperone HIRA.
Histone Loaders CAF1 and HIRA Restrict Epstein-Barr Virus B-Cell Lytic Reactivation.
Title: Histone Loaders CAF1 and HIRA Restrict Epstein-Barr Virus B-Cell Lytic Reactivation.
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Title: Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Two HIRA-dependent pathways mediate H3.3 de novo deposition and recycling during transcription.
Title: Two HIRA-dependent pathways mediate H3.3 de novo deposition and recycling during transcription.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434686 (e-PCR)
- UniSTS:157206

STS-X89887 (e-PCR)
- UniSTS:14128

D22S609 (e-PCR)
- UniSTS:18525

D22S941 (e-PCR)
- UniSTS:150370

D22S942 (e-PCR)
- UniSTS:150371

RH27840 (e-PCR)
- UniSTS:84120

SHGC-58589 (e-PCR)
- UniSTS:94410

RH77784 (e-PCR)
- UniSTS:61133

D22S1095E (e-PCR)
- UniSTS:153811

D22S1039 (e-PCR)
- UniSTS:151775

D22S446 (e-PCR)
- UniSTS:259313

D22S447 (e-PCR)
- UniSTS:259314

D22S451 (e-PCR)
- UniSTS:259315

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 remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in gastrulation	IEA Inferred from Electronic Annotation more info
involved_in 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
involved_in osteoblast differentiation	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
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	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

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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

NG_009231.2 RefSeqGene

Range

4964..105999

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003325.4 → NP_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:7 → 372

WD40; WD40 repeat [General function prediction only]

cd00200
Location:7 → 352

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:763 → 954

Hira; TUP1-like enhancer of split

pfam09453
Location:448 → 469

HIRA_B; HIRA B motif

pfam12341
Location:727 → 795

Mcl1_mid; Minichromosome loss protein, Mcl1, middle region

sd00039
Location:16 → 61

7WD40; WD40 repeat [structural motif]