HIRA Gene (Protein Coding)

Histone Cell Cycle Regulator

GC22M019318
GIFtS:
42
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 ce... See more...

Aliases for HIRA Gene

Aliases for HIRA Gene

  • Histone Cell Cycle Regulator 2 3 5
  • DGCR1 2 3 4
  • TUP1-Like Enhancer Of Split Protein 1 3 4
  • DiGeorge Critical Region Gene 1 2 3
  • Histone Regulator A 2 3
  • Protein HIRA 3 4
  • TUPLE1 3 4
  • TUP1 2 3
  • HIR (Histone Cell Cycle Regulation Defective) Homolog A (S. Cerevisiae) 2
  • HIR Histone Cell Cycle Regulation Defective Homolog A 3
  • HIRA 5
  • HIR 4

External Ids for HIRA Gene

Previous HGNC Symbols for HIRA Gene

  • TUPLE1

Previous GeneCards Identifiers for HIRA Gene

  • GC22M016258
  • GC22M017692
  • GC22M002938

Summaries for HIRA Gene

Entrez Gene Summary for HIRA Gene

  • 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]

GeneCards Summary for HIRA Gene

HIRA (Histone Cell Cycle Regulator) is a Protein Coding gene. Diseases associated with HIRA include Digeorge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Chromatin Regulation / Acetylation and DNA Damage/Telomere Stress Induced Senescence. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription corepressor activity.

UniProtKB/Swiss-Prot Summary for HIRA Gene

  • Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit.

Gene Wiki entry for HIRA Gene

Additional gene information for HIRA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIRA Gene

Genomics for HIRA Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HIRA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J019429 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +15.7 15683 4.7 RNF2 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ZNF629 PRDM10 REST MRPL40 HIRA LINC01311 TRMT2A DGCR8 UFD1 ESS2 RANBP1 RTL10 RPL7AP70
GH22J019446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.3 -251 3.4 SP1 CREB1 HNRNPL PRDM10 ZNF629 RFX1 LEF1 IKZF1 NFKBIZ POLR2A C22orf39 ENSG00000185065 HIRA LOC105372860 DGCR8 TRMT2A UFD1 LINC01311 RPL8P5 RPL7AP70
GH22J019360 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 600.2 +84.2 84150 6.2 PRDM10 POLR2A RELA IKZF2 PKNOX1 EED DPF2 RELB RUNX3 RBM22 HIRA UFD1 CLTCL1 DGCR8 ENSG00000185065 CDC45 TRMT2A LINC01311 E2F6P1 ZDHHC8
GH22J019405 Promoter 0.4 EPDnew 612.6 +41.6 41613 0.1 HNRNPUL1 HIRA UFD1 RPL7AP70 C22orf39 ENSG00000185065 DGCR11 CDC45 lnc-MRPL40-2 MRPL40 lnc-MRPL40-5
GH22J019396 Enhancer 1.1 ENCODE dbSUPER 12.2 +49.8 49765 2.1 HNRNPL LEF1 IKZF1 JUND MTA2 PKNOX1 ZNF24 MTA1 ZNF740 BRD9 TRMT2A DGCR8 LINC01311 UFD1 RPL8P5 ENSG00000273300 ESS2 E2F6P1 RANBP1 HIRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIRA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIRA

Top Transcription factor binding sites by QIAGEN in the HIRA gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • Ik-2
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP
  • USF-1
  • USF-1:USF-2

Genomic Locations for HIRA Gene

Genomic Locations for HIRA Gene
chr22:19,330,698-19,447,450
(GRCh38/hg38)
Size:
116,753 bases
Orientation:
Minus strand
chr22:19,318,221-19,435,224
(GRCh37/hg19)
Size:
117,004 bases
Orientation:
Minus strand

Genomic View for HIRA Gene

Genes around HIRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIRA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HIRA Gene

Proteins for HIRA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HIRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54198-HIRA_HUMAN
    Recommended name:
    Protein HIRA
    Protein Accession:
    P54198
    Secondary Accessions:
    • Q05BU9
    • Q8IXN2

    Protein attributes for HIRA Gene

    Size:
    1017 amino acids
    Molecular mass:
    111835 Da
    Quaternary structure:
    • Interacts with histone H3-3B, PAX3 and PAX7 (By similarity). Interacts with histone H3.Y (PubMed:28334823). Interacts with CCNA1, HIRIP3, NFU1/HIRIP5 and histone H2B. Part of a complex which includes ASF1A, CABIN1, histone H3.3, histone H4 and UBN1 (PubMed:11238922, PubMed:14680630, PubMed:14718166, PubMed:15621527, PubMed:16980972, PubMed:19029251, PubMed:9710638).
    SequenceCaution:
    • Sequence=CAA53044.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA54721.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA57436.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HIRA Gene

    Alternative splice isoforms for HIRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIRA Gene

Protein Expression for HIRA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HIRA Gene

  • Sumoylated.
  • Phosphorylated by CDK2/CCNA1 and CDK2/CCNE1 on Thr-555 in vitro. Also phosphorylated on Thr-555 and Ser-687 in vivo.
  • Ubiquitination at Lys27, Lys114, Lys178, Lys187, Lys381, and Lys416
  • Modification sites at PhosphoSitePlus

Other Protein References for HIRA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HIRA Gene

Domains & Families for HIRA Gene

Gene Families for HIRA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HIRA Gene

InterPro:
Blocks:
  • G-protein beta WD-40 repeat signature
  • TUP1-like enhancer of split
ProtoNet:

Suggested Antigen Peptide Sequences for HIRA Gene

GenScript: Design optimal peptide antigens:
  • TUP1-like enhancer of split protein 1 (HIRA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54198

UniProtKB/Swiss-Prot:

HIRA_HUMAN :
  • Belongs to the WD repeat HIR1 family.
Family:
  • Belongs to the WD repeat HIR1 family.
genes like me logo Genes that share domains with HIRA: view

Function for HIRA Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for HIRA Gene

UniProtKB/Swiss-Prot Function:
Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit.
GENATLAS Biochemistry:
histone cell cycle regulation defective,nuclear localization,S cerevisiae,homolog A,expressed in the neural crest,transcriptional repressors HIR1,HIR2,interacting with core histones H2B and H4,histone binding proteins and PAX1,required for cardiac outflow tract septation,commonly deleted in DiGeorge syndrome (see DGCR,TUPLE1)

Phenotypes From GWAS Catalog for HIRA Gene

Gene Ontology (GO) - Molecular Function for HIRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA-binding transcription factor activity TAS 9731536
GO:0003714 transcription corepressor activity TAS,IBA 21873635
GO:0005515 protein binding IPI 9710638
genes like me logo Genes that share ontologies with HIRA: view
genes like me logo Genes that share phenotypes with HIRA: view

Human Phenotype Ontology for HIRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HIRA Gene

MGI Knock Outs for HIRA:
  • Hira Hira<tm1Pjs>
  • Hira Hira<tm1a(EUCOMM)Wtsi>
  • Hira Hira<tm1d(EUCOMM)Wtsi>
  • Hira Hira<tm2Pjs>
  • Hira Hira<tm1Aam>

Animal Model Products

CRISPR Products

miRNA for HIRA Gene

miRTarBase miRNAs that target HIRA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIRA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HIRA Gene

Localization for HIRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIRA Gene

Nucleus. Nucleus, PML body. Note=Primarily, though not exclusively, localized to the nucleus. Localizes to PML bodies immediately prior to onset of senescence.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIRA gene
Compartment Confidence
nucleus 5
extracellular 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HIRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000417 HIR complex IBA 21873635
GO:0000775 chromosome, centromeric region IEA --
GO:0000790 nuclear chromatin IEA,IDA 14718166
GO:0005634 nucleus TAS 9710638
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with HIRA: view

Pathways & Interactions for HIRA Gene

genes like me logo Genes that share pathways with HIRA: view

SIGNOR curated interactions for HIRA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HIRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IBA 21873635
GO:0001649 osteoblast differentiation IEA --
GO:0006325 chromatin organization IEA --
GO:0006336 DNA replication-independent nucleosome assembly IBA,IDA 14718166
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HIRA: view

Drugs & Compounds for HIRA Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HIRA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HIRA Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIRA

Alternative Splicing Database (ASD) splice patterns (SP) for HIRA Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a ·
SP1:
SP2:
SP3: - -
SP4:
SP5: - -
SP6: -
SP7: -
SP8:
SP9:
SP10: -
SP11:

ExUns: 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - - - - - - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HIRA Gene

GeneLoc Exon Structure for
HIRA

Expression for HIRA Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIRA Gene

mRNA expression in normal human tissues for HIRA Gene
mRNA expression by BioGPS for HIRA GenemRNA expression by GTEx for HIRA Gene

Protein differential expression in normal tissues from HIPED for HIRA Gene

This gene is overexpressed in Breast (51.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIRA Gene



Protein tissue co-expression partners for HIRA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIRA

SOURCE GeneReport for Unigene cluster for HIRA Gene:

Hs.474206

mRNA Expression by UniProt/SwissProt for HIRA Gene:

P54198-HIRA_HUMAN
Tissue specificity: Expressed at high levels in kidney, pancreas and skeletal muscle and at lower levels in brain, heart, liver, lung, and placenta.

Evidence on tissue expression from TISSUES for HIRA Gene

  • Nervous system(4.2)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HIRA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
  • ureter
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HIRA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HIRA Gene

Orthologs for HIRA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HIRA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HIRA 30 31
  • 99.77 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HIRA 30 31
  • 91.77 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Hira 30 17 31
  • 90.02 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HIRA 31
  • 90 (a)
 OneToOne
LOC101906870 30
  • 85.5 (n)
Rat
(Rattus norvegicus)
 Mammalia Hira 30
  • 89.75 (n)
Oppossum
(Monodelphis domestica)
 Mammalia HIRA 31
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves HIRA 30 31
  • 77.42 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia HIRA 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100495450 30
  • 73.16 (n)
African clawed frog
(Xenopus laevis)
 Amphibia hira 30
Zebrafish
(Danio rerio)
 Actinopterygii hira 30 31
  • 68.39 (n)
 OneToOne
wufb97b07 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Hira 30 31 32
  • 52.59 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009488 30
  • 50.43 (n)
Worm
(Caenorhabditis elegans)
 Secernentea K10D2.1 30 31
  • 43.02 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HIR1 31 33
  • 26 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons HIRA 30
  • 45.97 (n)
Rice
(Oryza sativa)
 Liliopsida Os09g0567700 30
  • 46.85 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 41 (a)
 OneToOne
Species where no ortholog for HIRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for HIRA Gene

ENSEMBL:
Gene Tree for HIRA (if available)
TreeFam:
Gene Tree for HIRA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIRA: view image

Paralogs for HIRA Gene

(2) SIMAP similar genes for HIRA Gene using alignment to 4 proteins:

  • HIRA_HUMAN
  • F5H4M2_HUMAN
  • H7C2A7_HUMAN
  • L7N2F8_HUMAN

Pseudogenes.org Pseudogenes for HIRA Gene

genes like me logo Genes that share paralogs with HIRA: view

No data available for Paralogs for HIRA Gene

Variants for HIRA Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIRA Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
710905 Benign: not provided 19,396,832(-) C/T SYNONYMOUS_VARIANT
711764 Likely Benign: not provided 19,431,468(-) G/A SYNONYMOUS_VARIANT
713436 Benign: not provided 19,354,025(-) C/T SYNONYMOUS_VARIANT
714835 Benign: not provided 19,353,405(-) G/A SYNONYMOUS_VARIANT
715867 Benign: not provided 19,385,685(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HIRA Gene

Structural Variations from Database of Genomic Variants (DGV) for HIRA Gene

Variant ID Type Subtype PubMed ID
esv1126765 CNV insertion 17803354
esv28972 CNV gain 19812545
esv3303776 CNV mobile element insertion 20981092
esv3382059 CNV insertion 20981092
esv3410502 CNV duplication 20981092
esv3575418 CNV gain 25503493
esv3647270 CNV gain 21293372
nsv1160727 CNV duplication 26073780
nsv3557 CNV insertion 18451855
nsv476314 CNV novel sequence insertion 20440878
nsv479571 CNV novel sequence insertion 20440878
nsv588216 CNV gain 21841781
nsv588218 CNV loss 21841781
nsv834123 CNV loss 17160897
nsv834124 CNV loss 17160897
nsv834125 CNV loss 17160897
nsv834127 CNV loss 17160897

Variation tolerance for HIRA Gene

Residual Variation Intolerance Score: 2.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIRA Gene

Human Gene Mutation Database (HGMD)
HIRA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIRA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIRA Gene

Disorders for HIRA Gene

MalaCards: The human disease database

(13) MalaCards diseases for HIRA Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • cayler cardiofacial syndrome
velocardiofacial syndrome
  • digeorge syndrome
tetralogy of fallot
  • tof
thymic dysplasia
chromosome 22q11.2 duplication syndrome
  • chromosome 22q11.2 microduplication syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HIRA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HIRA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HIRA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIRA Gene

Publications for HIRA Gene

  1. A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. (PMID: 7633437) Lamour V … Lipinski M (Human molecular genetics 1995) 2 3 4 23
  2. Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells. (PMID: 19029251) Banumathy G … Adams PD (Molecular and cellular biology 2009) 3 4 23
  3. Structure of a human ASF1a-HIRA complex and insights into specificity of histone chaperone complex assembly. (PMID: 16980972) Tang Y … Marmorstein R (Nature structural & molecular biology 2006) 3 4 23
  4. Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. (PMID: 15621527) Zhang R … Adams PD (Developmental cell 2005) 3 4 23
  5. Histone H3.1 and H3.3 complexes mediate nucleosome assembly pathways dependent or independent of DNA synthesis. (PMID: 14718166) Tagami H … Nakatani Y (Cell 2004) 3 4 23

ExternalLinks

View latest publications for HIRA gene in Mastermind

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