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Aliases for HIRA Gene

Aliases for HIRA Gene

  • Histone Cell Cycle Regulator 2 3
  • TUP1-Like Enhancer Of Split Protein 1 3 4
  • DiGeorge Critical Region Gene 1 2 3
  • TUPLE1 3 4
  • DGCR1 3 4
  • HIR (Histone Cell Cycle Regulation Defective) Homolog A (S. Cerevisiae) 2
  • HIR Histone Cell Cycle Regulation Defective Homolog A (S. Cerevisiae) 2
  • HIR Histone Cell Cycle Regulation Defective Homolog A 3
  • TUP1 3
  • 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 velocardiofacial syndrome and digeorge syndrome. Among its related pathways are Cellular Senescence and Chromatin Regulation / Acetylation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription corepressor activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIRA Gene

Genomics for HIRA Gene

Regulatory Elements for HIRA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HIRA Gene

Chromosome:
22
Start:
19,330,698 bp from pter
End:
19,447,450 bp from pter
Size:
116,753 bases
Orientation:
Minus strand

Genomic View for HIRA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HIRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIRA Gene

Proteins for HIRA Gene

  • 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 H3F3B, PAX3 and PAX7 (By similarity). Interacts with CCNA1, HIRIP3, NFU1/HIRIP5 and histone H2B. Part of a complex which includes ASF1A, CABIN1, histone H3.3, histone H4 and UBN1.
    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

Proteomics data for HIRA Gene at MOPED

Post-translational modifications for HIRA Gene

  • Phosphorylated by CDK2/CCNA1 and CDK2/CCNE1 on Thr-555 in vitro. Also phosphorylated on Thr-555 and Ser-687 in vivo.
  • Sumoylated.
  • Ubiquitination at Lys 27, Lys 178, Lys 187, Lys 381, and Lys 416
  • Modification sites at PhosphoSitePlus

Other Protein References for HIRA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HIRA (HIRA)

No data available for DME Specific Peptides for HIRA Gene

Domains & Families for HIRA Gene

Gene Families for HIRA Gene

Suggested Antigen Peptide Sequences for HIRA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54198

UniProtKB/Swiss-Prot:

HIRA_HUMAN :
  • Belongs to the WD repeat HIR1 family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat HIR1 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with HIRA: view

Function for HIRA Gene

Molecular function for HIRA Gene

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)
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.

Gene Ontology (GO) - Molecular Function for HIRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9731536
GO:0003714 transcription corepressor activity TAS 9731536
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

Animal Models for HIRA Gene

MGI Knock Outs for HIRA:

Animal Model Products

miRNA for HIRA Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for HIRA Gene COMPARTMENTS Subcellular localization image for HIRA gene
Compartment Confidence
extracellular 5
nucleus 5

Gene Ontology (GO) - Cellular Components for HIRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 14718166
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0016605 PML body IEA --
GO:0043234 protein complex IDA 14718166
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:0001649 osteoblast differentiation IEA --
GO:0006336 DNA replication-independent nucleosome assembly IDA 14718166
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9731536
genes like me logo Genes that share ontologies with HIRA: view

Drugs & Compounds for HIRA Gene

No Compound Related Data Available

Transcripts for HIRA Gene

Unigene Clusters for HIRA Gene

HIR histone cell cycle regulation defective homolog A (S. cerevisiae):
Representative Sequences:

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
ECgene alternative splicing isoforms for
HIRA

Expression for HIRA Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for HIRA Gene



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.
genes like me logo Genes that share expression patterns with HIRA: view

Protein tissue co-expression partners for HIRA Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia LOC101906870 35
  • 85.5 (n)
  • 91.02 (a)
HIRA 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIRA 35
  • 91.77 (n)
  • 96.56 (a)
HIRA 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hira 35
  • 90.02 (n)
  • 95.96 (a)
Hira 16
Hira 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HIRA 35
  • 99.77 (n)
  • 99.9 (a)
HIRA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hira 35
  • 89.75 (n)
  • 95.76 (a)
oppossum
(Monodelphis domestica)
Mammalia HIRA 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIRA 35
  • 77.42 (n)
  • 85.94 (a)
HIRA 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIRA 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495450 35
  • 73.16 (n)
  • 79.43 (a)
African clawed frog
(Xenopus laevis)
Amphibia hira 35
zebrafish
(Danio rerio)
Actinopterygii hira 35
  • 68.39 (n)
  • 71.29 (a)
wufb97b07 35
hira 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hira 37
  • 54 (a)
Hira 35
  • 52.59 (n)
  • 47.22 (a)
Hira 36
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009488 35
  • 50.43 (n)
  • 44.47 (a)
worm
(Caenorhabditis elegans)
Secernentea K10D2.1 35
  • 43.02 (n)
  • 34.02 (a)
K10D2.1 36
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HIR1 36
  • 26 (a)
OneToOne
HIR1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons HIRA 35
  • 45.97 (n)
  • 37.9 (a)
rice
(Oryza sativa)
Liliopsida Os09g0567700 35
  • 46.85 (n)
  • 37.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for HIRA:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for HIRA Gene

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

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

Sequence variations from dbSNP and Humsavar for HIRA Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs20550 -- 19,383,643(-) CCTCT(C/T)TGCAT reference, synonymous-codon
rs728782 -- 19,414,617(+) CACTT(C/T)CTGCA intron-variant
rs737810 -- 19,360,676(+) CAGGA(A/G)AGGCC intron-variant
rs756652 -- 19,358,477(+) GGGAG(G/T)GACAG intron-variant
rs768620 -- 19,370,510(-) tccta(G/T)cattc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv834123 CNV Loss 17160897
nsv834124 CNV Loss 17160897
nsv834125 CNV Loss 17160897
nsv3557 CNV Insertion 18451855
esv268055 CNV Insertion 20981092
esv1126765 CNV Insertion 17803354
nsv834127 CNV Loss 17160897
dgv4839n71 CNV Loss 21882294
esv28972 CNV Gain 19812545

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)

Relevant External Links for HIRA Gene

HapMap Linkage Disequilibrium report
HIRA

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

Disorders for HIRA Gene

MalaCards: The human disease database

(3) MalaCards diseases for HIRA Gene - From: Orphanet, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • 22q11 deletion syndrome
digeorge syndrome
  • digeorge's syndrome
tetralogy of fallot
  • tetrology of fallot
- elite association
Search HIRA in MalaCards View complete list of genes associated with diseases

Relevant External Links for HIRA

Genetic Association Database (GAD)
HIRA
Human Genome Epidemiology (HuGE) Navigator
HIRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIRA
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. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. (PMID: 9731536) Magnaghi P. … Scambler P.J. (Nat. Genet. 1998) 2 23 67
  2. 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. (Hum. Mol. Genet. 1995) 2 23 67
  3. [The function of histone chaperones during development]. (PMID: 20085884) Zhao Z.K. … Wang Y.F. (Yi Chuan 2010) 23 67
  4. 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 P.D. (Mol. Cell. Biol. 2009) 23 67
  5. Identification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosity. (PMID: 19268070) Lee C.L. … Shiue Y.L. (Rev Esp Cardiol 2009) 23 67

Products for HIRA Gene

Sources for HIRA Gene

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