HIRA - histone cell cycle regulator Gene

Also Known as TUP1; DGCR1; TUPLE1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7290

About HIRA

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,330,698-19,431,733 (from NCBI)

This gene has 4 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 43.4), bone marrow (RPKM 10.9) and 24 other tissues.

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]

HIRA Products (1)

mRNA	Protein	Name
NM_003325.4	NP_003316.3	protein HIRA

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	9731536	GOA
enables histone binding	IDA IDA: Inferred from direct assay	9731536	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9710638	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in nucleosome assembly	IDA IDA: Inferred from direct assay	14718166	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	14718166	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	14718166	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HIRA Protein Structure

WD40

HIRA_B

Hira

0
200
400
600
800
1017 a.a.

Protein Preferred Names	Protein Names
protein HIRA	DiGeorge critical region gene 1

HIRA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HIRA	P54198	ASF1B	Homo sapiens	Q9NVP2	ITC	16980972
Intra	HIRA	P54198	ASF1B	Homo sapiens	Q9NVP2	Pull Down	16980972
Intra	HIRA	P54198	ASF1B	Homo sapiens	Q9NVP2	Anti Tag CoIP	16980972
Intra	HIRA	P54198	UBN1	Homo sapiens	Q9NPG3	GMS	19029251
Intra	HIRA	P54198	UBN1	Homo sapiens	Q9NPG3	Anti Bait CoIP	19029251
Intra	HIRA	P54198	UBN1	Homo sapiens	Q9NPG3	Anti Tag CoIP	33961781
Intra	HIRA	P54198	UBN1	Homo sapiens	Q9NPG3	Anti Tag CoIP	19029251
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	Pull Down	16980972
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	ITC	16980972
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	Anti Tag CoIP	19029251
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	Anti Bait CoIP	19029251
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	Competition Binding	16980972
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	X-Ray Diffraction	16980972
Intra	HIRA	P54198	ASF1A	Homo sapiens	Q9Y294	Anti Tag CoIP	16980972
Intra	HIRA	P54198	UBN2	Homo sapiens	Q6ZU65	Anti Tag CoIP	19029251
Intra	HIRA	P54198	UBN2	Homo sapiens	Q6ZU65	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

HIRA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83037	HIRA Antibody (YA2782)	WB, ICC/IF, FC, IP	Human

Related Diseases

Diseases	Alias
Digeorge Syndrome	Chromosome 22q11.2 Deletion Syndrome DGS Hypoplasia Of Thymus And Parathyroids Third And Fourth Pharyngeal Pouch Syndrome 22q11.2 Deletion Syndrome Digeorge Sequence Digeorge'S Syndrome Pharyngeal Pouch Syndrome Di-George Syndrome Shprintzen Syndrome
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Ichthyosis, Congenital, Autosomal Recessive 9	Autosomal Recessive Congenital Ichthyosis 9 ARCI9 Ichthyosis, Congenital, Autosomal Recessive, Type 9
Chromosome 22q11.2 Duplication Syndrome	Chromosome 22q11.2 Microduplication Syndrome 22q11.2 Microduplication Syndrome 22q11.2 Duplication Syndrome Duplication 22q11.2 Trisomy 22q11.2 22q11.2 Duplication Dup(22)(Q11)
Chromosomal Deletion Syndrome
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
T-Cell Immunodeficiency With Thymic Aplasia	Nezelof Syndrome T-Lymphocyte Deficiency TIDTA Immune Defect Due To Absence Of Thymus Thymic Aplasia Nezelof'S Syndrome Thymic Dysplasia With Normal Immunoglobulins Thymic Aplasia Syndrome T-Lymphocyte Immunodeficiency
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Orofacial Cleft	Cleft, Orofacial
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P2093B	S961 acetate	Antagonist	99.98%	Unkown
HY-P2093	S961	Antagonist	99.98%	Unkown
HY-P2093A	S961 TFA	Antagonist	97.60%	Unkown
HY-RS06185	HIRA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20753	Hira Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27265	Hira Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HIRA	VGNC	VGNC:67576
Canis familiaris	HIRA	VGNC	VGNC:50634
Rattus norvegicus	HIRA	RGD	RGD:1584950
Mus musculus	HIRA	MGD	MGI:99430
Macaca mulatta	HIRA	VGNC	VGNC:96714
Bos taurus	HIRA	VGNC	VGNC:50616
Others	HIRA	NCBI