Hira histone cell cycle regulator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hiraprovided by MGI
Official Full Name: histone cell cycle regulatorprovided by MGI
Primary source: MGI:MGI:99430
See related: Ensembl:ENSMUSG00000022702 AllianceGenome:MGI:99430
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tuple1; Gm15797; D16Ertd95e
Summary: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity and histone binding activity. Predicted to contribute to nucleosome binding activity. Acts upstream of or within gastrulation; muscle cell differentiation; and osteoblast differentiation. Located in chromatin. Is expressed in several structures, including branchial arch; cardiovascular system; central nervous system; limb bud; and sensory organ. Orthologous to human HIRA (histone cell cycle regulator). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 13.7), CNS E14 (RPKM 13.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A3; 16 11.69 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (18695500..18789059)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (18876750..18970309)

Chromosome 16 - NC_000082.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cdk8 and Hira mutations trigger X chromosome elimination in naive female hybrid mouse embryonic stem cells.
Title: Cdk8 and Hira mutations trigger X chromosome elimination in naive female hybrid mouse embryonic stem cells.
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.
The histone H3.3 chaperone HIRA restrains erythroid-biased differentiation of adult hematopoietic stem cells.
Title: The histone H3.3 chaperone HIRA restrains erythroid-biased differentiation of adult hematopoietic stem cells.
HIRA complex presets transcriptional potential through coordinating depositions of the histone variants H3.3 and H2A.Z on the poised genes in mESCs.
Title: HIRA complex presets transcriptional potential through coordinating depositions of the histone variants H3.3 and H2A.Z on the poised genes in mESCs.
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.
Defective folate metabolism causes germline epigenetic instability and distinguishes Hira as a phenotype inheritance biomarker.
Title: Defective folate metabolism causes germline epigenetic instability and distinguishes Hira as a phenotype inheritance biomarker.
HIRA stabilizes skeletal muscle lineage identity.
Title: HIRA stabilizes skeletal muscle lineage identity.
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.
HIRA, a DiGeorge Syndrome Candidate Gene, Confers Proper Chromatin Accessibility on HSCs and Supports All Stages of Hematopoiesis.
Title: HIRA, a DiGeorge Syndrome Candidate Gene, Confers Proper Chromatin Accessibility on HSCs and Supports All Stages of Hematopoiesis.
These data suggest that elimination of HIRA produces a hypertrophic response in skeletal muscle and leaves myofibers susceptible to stress-induced degeneration.
Title: HIRA deficiency in muscle fibers causes hypertrophy and susceptibility to oxidative stress.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (8) 1 citation
Transposon induced (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16Ertd95e (e-PCR), detects polymorphism
- UniSTS:167206

RH125072 (e-PCR)
- UniSTS:161894

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:237460

Hira (e-PCR), detects polymorphism
- UniSTS:496801

X92590 (e-PCR)
- UniSTS:125888

D22S1095E (e-PCR)
- UniSTS:153811

D22S1039 (e-PCR)
- UniSTS:151775

Hira (e-PCR), detects polymorphism
- UniSTS:143346

Hira (e-PCR), detects polymorphism
- UniSTS:265717

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables histone binding	IEA Inferred from Electronic Annotation more info
enables histone binding	ISO Inferred from Sequence Orthology more info
enables histone chaperone activity	TAS Traceable Author Statement more info
contributes_to nucleosome binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nucleosome assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within osteoblast differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

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
located_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	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein HIRA

Names: TUP1-like enhancer of split gene 1; TUP1-like enhancer of split protein 1; histone cell cycle regulation defective homolog 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.

mRNA and Protein(s)

NM_010435.2 → NP_034565.2 protein HIRA

See identical proteins and their annotated locations for NP_034565.2

Status: VALIDATED

Source sequence(s)

AK168963, BC060181, CA323899

Consensus CDS

CCDS28031.1

UniProtKB/Swiss-Prot

O08845, Q3TFY0, Q3UX35, Q61666, Q62365, Q7TMW4

Related

ENSMUSP00000004222.8, ENSMUST00000004222.14

Conserved Domains (5) 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:761 → 952

Hira; TUP1-like enhancer of split

pfam09453
Location:448 → 469

HIRA_B; HIRA B motif

sd00039
Location:16 → 61

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

18695500..18789059

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006521800.4 → XP_006521863.1 protein HIRA isoform X2

See identical proteins and their annotated locations for XP_006521863.1

Conserved Domains (4) summary

sd00039
Location:31 → 85

7WD40; WD40 repeat [structural motif]

pfam07569
Location:718 → 908

Hira; TUP1-like enhancer of split

pfam09453
Location:404 → 426

HIRA_B; HIRA B motif

cl29593
Location:25 → 308

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 ...
XM_006521799.4 → XP_006521862.1 protein HIRA isoform X2

See identical proteins and their annotated locations for XP_006521862.1

Conserved Domains (4) summary

sd00039
Location:31 → 85

7WD40; WD40 repeat [structural motif]

pfam07569
Location:718 → 908

Hira; TUP1-like enhancer of split

pfam09453
Location:404 → 426

HIRA_B; HIRA B motif

cl29593
Location:25 → 308

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 ...
XM_036159786.1 → XP_036015679.1 protein HIRA isoform X4

Conserved Domains (2) summary

pfam07569
Location:421 → 611

Hira; TUP1-like enhancer of split

pfam09453
Location:107 → 129

HIRA_B; HIRA B motif
XM_036159785.1 → XP_036015678.1 protein HIRA isoform X3

Conserved Domains (4) summary

sd00039
Location:53 → 90

7WD40; WD40 repeat [structural motif]

pfam07569
Location:680 → 870

Hira; TUP1-like enhancer of split

pfam09453
Location:366 → 388

HIRA_B; HIRA B motif

cl29593
Location:2 → 270

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 ...
XM_006521801.5 → XP_006521864.1 protein HIRA isoform X3

Conserved Domains (4) summary

sd00039
Location:53 → 90

7WD40; WD40 repeat [structural motif]

pfam07569
Location:680 → 870

Hira; TUP1-like enhancer of split

pfam09453
Location:366 → 388

HIRA_B; HIRA B motif

cl29593
Location:2 → 270

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 ...
XM_006521798.4 → XP_006521861.2 protein HIRA isoform X1

Conserved Domains (5) summary

cd00200
Location:7 → 345

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 ...

sd00039
Location:9 → 54

7WD40; WD40 repeat [structural motif]

pfam03546
Location:476 → 705

Treacle; Treacher Collins syndrome protein Treacle

pfam07569
Location:755 → 945

Hira; TUP1-like enhancer of split

pfam09453
Location:441 → 463

HIRA_B; HIRA B motif
XM_036159784.1 → XP_036015677.1 protein HIRA isoform X2

Conserved Domains (4) summary

sd00039
Location:31 → 85

7WD40; WD40 repeat [structural motif]

pfam07569
Location:718 → 908

Hira; TUP1-like enhancer of split

pfam09453
Location:404 → 426

HIRA_B; HIRA B motif

cl29593
Location:25 → 308

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 ...

RNA

XR_003951761.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001005228.1: Suppressed sequence

Description

NM_001005228.1: This RefSeq was temporarily suppressed because currently there are not sufficient data to support this transcript.