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HIRA Gene

protein-coding   GIFtS: 64
GCID: GC22M019318

Histone Cell Cycle Regulator

(Previous names: HIR (histone cell cycle regulation defective) homolog A...)
(Previous symbol: TUPLE1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Histone Cell Cycle Regulator1 2     HIR Histone Cell Cycle Regulation Defective Homolog A (S. Cerevisiae)1
TUPLE11 2 3 5     TUP12
DiGeorge Critical Region Gene 11 2     HIR Histone Cell Cycle Regulation Defective Homolog A2
DGCR12 3     Protein HIRA2
TUP1-Like Enhancer Of Split Protein 12 3     HIR3
HIR (Histone Cell Cycle Regulation Defective) Homolog A (S. Cerevisiae)1     

External Ids:    HGNC: 49161   Entrez Gene: 72902   Ensembl: ENSG000001000847   OMIM: 6002375   UniProtKB: P541983   

Export aliases for HIRA gene to outside databases

Previous GC identifers: GC22M016258 GC22M017692 GC22M002938


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pulmonary valve stenosis. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: HIRA_HUMAN, P54198
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 Wiki entry for HIRA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the HIRA gene promoter:
         TBP   AML1a   AP-1   ATF-2   USF-1:USF-2   PPAR-gamma1   Ik-2   USF-1   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHIRA promoter sequence
   Search Chromatin IP Primers for HIRA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HIRA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

HIRA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIRA gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019318:  view genomic region     (about GC identifiers)

Start:
19,318,221 bp from pter      End:
19,435,224 bp from pter
Size:
117,004 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HIRA_HUMAN, P54198 (See protein sequence)
Recommended Name: Protein HIRA  
Size: 1017 amino acids; 111835 Da
Subunit: 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
Developmental stage: Expressed during embryogenesis
Sequence caution: Sequence=CAA53044.1; Type=Erroneous initiation; Sequence=CAA54721.1; Type=Erroneous initiation;
Sequence=CAA57436.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for HIRA:
2I32 (3D)    
Secondary accessions: Q05BU9 Q8IXN2
Alternative splicing: 2 isoforms:  P54198-1   P54198-2   

Explore the universe of human proteins at neXtProt for HIRA: NX_P54198

Explore proteomics data for HIRA at MOPED

Post-translational modifications: 

  • Sumoylated1
  • Phosphorylated by CDK2/CCNA1 and CDK2/CCNE1 on Thr-555 in vitro. Also phosphorylated on Thr-555 and Ser-687 in
    vivo1
  • Ubiquitination2 at Lys27, Lys114, Lys178, Lys187, Lys381, Lys416
  • Modification sites at PhosphoSitePlus

  • See HIRA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003316.3  
    ENSEMBL proteins: 
     ENSP00000345350   ENSP00000263208   ENSP00000404792   ENSP00000446073   ENSP00000441870  
    Reactome Protein details: P54198

    HIRA Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for HIRA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR011494 Hira
     IPR019015 HIRA_B_motif
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry P54198

    ProtoNet protein and cluster: P54198

    2 Blocks protein domains:
    IPB001680 G-protein beta WD-40 repeat signature
    IPB011494 TUP1-like enhancer of split


    UniProtKB/Swiss-Prot: HIRA_HUMAN, P54198
    Similarity: Belongs to the WD repeat HIR1 family
    Similarity: Contains 7 WD repeats


    HIRA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HIRA_HUMAN, P54198
    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 entry for HIRA:
    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)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9731536
    GO:0003714transcription corepressor activity TAS9731536
    GO:0005515protein binding IPI11342215
         
    HIRA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HIRA:
     Enable proliferation in B-Raf  

         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hira):
     cardiovascular system  craniofacial  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  nervous system 
     no phenotypic analysis 

    HIRA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HIRA: Hiratm1Pjs Hiratm2Pjs

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HIRA
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HIRA
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    Block miRNA regulation of human, mouse, rat HIRA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HIRA (see all 17):
    hsa-miR-124* hsa-miR-579 hsa-miR-3685 hsa-miR-520d-5p hsa-miR-944 hsa-miR-628-3p hsa-miR-155* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidHIRA 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HIRA_HUMAN, P54198: 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: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IEA--
    GO:0005634nucleus TAS9710638
    GO:0005654nucleoplasm TAS--
    GO:0016605PML body IEA--

    HIRA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HIRA About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Cellular responses to stress0.81
    2Packaging Of Telomere Ends
    DNA Damage/Telomere Stress Induced Senescence0.65
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)0.00
    3Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for HIRA
        Chromatin Regulation / Acetylation

    1 Reactome Pathway for HIRA
        Formation of Senescence-Associated Heterochromatin Foci (SAHF)



    HIRA for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HIRA
    Interactions:

        GeneGlobe Interaction Network for HIRA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HIRA (P541982, 3 ENSP000002632084) via UniProtKB, MINT, STRING, and/or I2D (see all 1052)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4FP628053, ENSP000003669744I2D: score=3 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=3 
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    HIST1H4DP628053I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9731536
    GO:0007369gastrulation IEA--

    HIRA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HIRA



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HIRA gene: 
    NM_003325.3  

    Unigene Cluster for HIRA:

    HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
    Hs.474206  [show with all ESTs]
    Unigene Representative Sequence: BC039835
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340170(uc010grn.1) ENST00000263208(uc002zpf.1 uc011agx.1 uc010gro.2)
    ENST00000464189 ENST00000452818 ENST00000541063 ENST00000546308
    miRNA
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    Block miRNA regulation of human, mouse, rat HIRA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HIRA (see all 17):
    hsa-miR-124* hsa-miR-579 hsa-miR-3685 hsa-miR-520d-5p hsa-miR-944 hsa-miR-628-3p hsa-miR-155* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidHIRA 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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      QuantiTect SYBR Green Assays in human, mouse, rat HIRA
      QuantiFast Probe-based Assays in human, mouse, rat HIRA

    Additional mRNA sequence: 

    AK289809.1 AK299950.1 AK302835.1 AK308642.1 BC019020.1 BC032721.1 BC039835.1 CR456503.1 
    X75296.1 X77633.1 X81844.1 X89887.1 

    21 DOTS entries:

    DT.86855487  DT.100782808  DT.120652493  DT.95270660  DT.120652543  DT.100024516  DT.75110689  DT.95270659 
    DT.100665902  DT.100782809  DT.120652494  DT.86855486  DT.100782803  DT.120652462  DT.120652556  DT.92425739 
    DT.120652505  DT.120652607  DT.120652622  DT.452035  DT.99939245 

    Selected AceView cDNA sequences (see all 158):

    AL040645 H55671 CR456503 CB155691 AI801803 AI192555 H55293 BC039835 
    AI444984 BU508868 BI833228 AI632005 BI914128 AA381611 BQ638682 AU121562 
    F15217 BM551028 F11555 BG911776 NM_003325 H55676 H55289 BF590890 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HIRA (see all 11)    About this scheme

    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:                                -     -                                                                                                                     

    ExUns: 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26a · 26b
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for HIRA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HIRA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HIRA Expression
    About this image


    HIRA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    HIRA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HIRA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474206

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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HIRA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HIRA gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hira1 , 5 histone cell cycle regulation defective homolog A (S. more1, 5 90.02(n)1
    95.96(a)1
      16 (11.69 cM)5
    152601  NM_010435.21  NP_034565.21 
     188770375 
    chicken
    (Gallus gallus)
    Aves HIRA1 HIR histone cell cycle regulation defective homolog more 77.42(n)
    85.94(a)
      374074  XM_004945620.1  XP_004945677.1 
    lizard
    (Anolis carolinensis)
    Reptilia HIRA6
    histone cell cycle regulator
    84(a)
    1 ↔ 1
    GL343282.1(1413479-1458704)
    African clawed frog
    (Xenopus laevis)
    Amphibia hira2 HIRA protein 77.53(n)    AJ404369.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb97b072 Transcribed sequence with moderate similarity to protein more 78.44(n)    BM957274.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hira1 , 3 transcription co-repressor3
    Hira1
    54(a)3
    52.59(n)1
    47.22(a)1
      7B73
    316801  NM_132173.21  NP_572401.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K10D2.11 K10D2.1 43.02(n)
    34.02(a)
      175709  NM_065700.4  NP_498101.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HIR1(YBL008W)4 Subunit of the HIR complex, a nucleosome assembly complex more   --   2(209653-212175) 852275  NP_009545.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HIRA1 HIRA 45.97(n)
    37.9(a)
      823578  NM_001203080.1  NP_001190009.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05677001 Os09g0567700 46.85(n)
    37.45(a)
      4347889  NM_001070499.1  NP_001063964.1 


    ENSEMBL Gene Tree for HIRA (if available)
    TreeFam Gene Tree for HIRA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HIRA gene
    2 SIMAP similar genes for HIRA using alignment to 4 protein entries:     HIRA_HUMAN (see all proteins):
    C22orf39    PF20

    HIRA for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HIRA
    PGOHUM00000238700


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HIRA (see all 2008)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs72910371,2
    C,F--19317830(+) gagtcC/Tgatgt 1 -- ds50012Minor allele frequency- T:0.50NA WA 4
    rs1467336091,2
    C--19317859(+) CAGCAC/TGGGAG 1 -- ds50010--------
    rs1839862721,2
    --19318013(+) TTTGGC/TAACAC 1 -- ds50010--------
    rs1442232021,2
    C--19318286(+) CCCCA-/TTTCCC 1 -- ut310--------
    rs1888624751,2
    --19318320(+) CATTTA/GAAAAT 1 -- ut310--------
    rs1926970641,2
    --19318535(+) TTACAC/TAGGTC 1 -- ut310--------
    rs12106901,2
    C,F,O,A,H--19318622(+) CATGGC/TGCCTG 1 -- ut31 ese333Minor allele frequency- T:0.03EA NA MN NS WA CSA 2761
    rs1403238211,2
    --19318707(+) GGCACC/TTGGGC 1 -- ut310--------
    rs1844935641,2
    --19318882(+) CTGGTA/CAGGTG 1 -- ut310--------
    rs1174474481,2
    C,F--19318912(+) ATCAGC/TGGCGA 1 -- ut312Minor allele frequency- T:0.01EA EU 1423

    HapMap Linkage Disequilibrium report for HIRA (19318221 - 19435224 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HIRA (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    esv268055CNV Insertion20981092
    nsv3557CNV Insertion18451855
    esv1126765CNV Insertion17803354
    nsv834123CNV Loss17160897
    dgv4839n71CNV Loss21882294
    nsv834127CNV Loss17160897
    nsv834124CNV Loss17160897
    nsv834125CNV Loss17160897
    esv28972CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HIRA
    DNA2.0 Custom Variant and Variant Library Synthesis for HIRA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600237    OMIM disorders: --

    16 diseases for HIRA:    
    About MalaCards
    digeorge syndrome    pulmonary valve stenosis    cystic lymphangioma    lymphangioma
    ventricular septal defect    developmental disabilities    tetralogy of fallot    autism spectrum disorder
    meningioma    retinoblastoma    tonsillitis    thyroiditis
    cerebritis    malaria    endotheliitis    prostatitis

    4 diseases from the University of Copenhagen DISEASES database for HIRA:
    DiGeorge syndrome     Velocardiofacial syndrome     Tetralogy of Fallot     Cystic lymphangioma

    HIRA for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for HIRA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    digeorge syndrome 86.8 9 9063745 (3), 10381330 (2), 9710638 (1), 11342215 (1) (see all 6)
    velocardiofacial syndrome 67.9 2 9731536 (1), 11342215 (1)
    developmental disabilities 40 1 9710638 (1)
    tumors 0 3 17242198 (1), 17643369 (1)

    Genetic Association Database (GAD): HIRA
    Human Genome Epidemiology (HuGE) Navigator: HIRA (6 documents)

    Export disorders for HIRA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HIRA gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with HIRA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. (PubMed id 7633437)1, 2, 3, 9 Lamour V.... Lipinski M. (Hum. Mol. Genet. 1995)
    2. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. (PubMed id 8111380)1, 2, 3 Halford S.... Scambler P.J. (Hum. Mol. Genet. 1993)
    3. HIRA, the human homologue of yeast Hir1p and Hir2p, is a novel cyclin-cdk2 substrate whose expression blocks S-phase progression. (PubMed id 11238922)1, 2, 9 Hall C.... Adams P.D. (Mol. Cell. Biol. 2001)
    4. Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. (PubMed id 9710638)1, 2, 9 Lorain S.... Lipinski M. (Mol. Cell. Biol. 1998)
    5. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. (PubMed id 9731536)1, 3, 9 Magnaghi P....Scambler P.J. (Nat. Genet. 1998)
    6. Formation of MacroH2A-containing senescence-associated heterochromatin foci and senescence driven by ASF1a and HIRA. (PubMed id 15621527)1, 2, 9 Zhang R.... Adams P.D. (Dev. Cell 2005)
    7. Structural organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22. (PubMed id 8681138)1, 2, 9 Lorain S....Lipinski M. (Genome Res. 1996)
    8. Structure of a human ASF1a-HIRA complex and insights into specificity of histone chaperone complex assembly. (PubMed id 16980972)1, 2, 9 Tang Y.... Marmorstein R. (Nat. Struct. Mol. Biol. 2006)
    9. Human UBN1 is an ortholog of yeast Hpc2p and has an essential role in the HIRA/ASF1a chromatin-remodeling pathway in senescent cells. (PubMed id 19029251)1, 2, 9 Banumathy G.... Adams P.D. (Mol. Cell. Biol. 2009)
    10. Histone H3.1 and H3.3 complexes mediate nucleosome assembly pathways dependent or independent of DNA synthesis. (PubMed id 14718166)1, 2, 9 Tagami H.... Nakatani Y. (Cell 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7290 HGNC: 4916 AceView: HIRA Ensembl:ENSG00000100084 euGenes: HUgn7290
    ECgene: HIRA H-InvDB: HIRA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HIRA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HIRA gene:
    Search GeneIP for patents involving HIRA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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