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Gene id 7290
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol HIRA   Gene   UCSC   Ensembl
Aliases DGCR1, TUP1, TUPLE1
Gene name histone cell cycle regulator
Alternate names protein HIRA, DiGeorge critical region gene 1, HIR histone cell cycle regulation defective homolog A, TUP1-like enhancer of split protein 1, histone regulator A,
Gene location 22q11.21 (17011971: 16985957)     Exons: 29     NC_000001.11
Gene summary(Entrez) 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 imp
OMIM 600237

Protein Summary

Protein general information P54198  

Name: Protein HIRA (TUP1 like enhancer of split protein 1)

Length: 1017  Mass: 111835

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

Sequence MKLLKPTWVNHNGKPIFSVDIHPDGTKFATGGQGQDSGKVVIWNMSPVLQEDDEKDENIPKMLCQMDNHLACVNC
VRWSNSGMYLASGGDDKLIMVWKRATYIGPSTVFGSSGKLANVEQWRCVSILRNHSGDVMDVAWSPHDAWLASCS
VDNTVVIWNAVKFPEILATLRGHSGLVKGLTWDPVGKYIASQADDRSLKVWRTLDWQLETSITKPFDECGGTTHV
LRLSWSPDGHYLVSAHAMNNSGPTAQIIEREGWKTNMDFVGHRKAVTVVKFNPKIFKKKQKNGSSAKPSCPYCCC
AVGSKDRSLSVWLTCLKRPLVVIHELFDKSIMDISWTLNGLGILVCSMDGSVAFLDFSQDELGDPLSEEEKSRIH
QSTYGKSLAIMTEAQLSTAVIENPEMLKYQRRQQQQQLDQKSAATREMGSATSVAGVVNGESLEDIRKNLLKKQV
ETRTADGRRRITPLCIAQLDTGDFSTAFFNSIPLSGSLAGTMLSSHSSPQLLPLDSSTPNSFGASKPCTEPVVAA
SARPAGDSVNKDSMNATSTPAALSPSVLTTPSKIEPMKAFDSRFTERSKATPGAPALTSMTPTAVERLKEQNLVK
ELRPRDLLESSSDSDEKVPLAKASSLSKRKLELEVETVEKKKKGRPRKDSRLMPVSLSVQSPAALTAEKEAMCLS
APALALKLPIPSPQRAFTLQVSSDPSMYIEVENEVTVVGGVKLSRLKCNREGKEWETVLTSRILTAAGSCDVVCV
ACEKRMLSVFSTCGRRLLSPILLPSPISTLHCTGSYVMALTAAATLSVWDVHRQVVVVKEESLHSILAGSDMTVS
QILLTQHGIPVMNLSDGKAYCFNPSLSTWNLVSDKQDSLAQCADFRSSLPSQDAMLCSGPLAIIQGRTSNSGRQA
ARLFSVPHVVQQETTLAYLENQVAAALTLQSSHEYRHWLLVYARYLVNEGFEYRLREICKDLLGPVHYSTGSQWE
STVVGLRKRELLKELLPVIGQNLRFQRLFTECQEQLDILRDK
Structural information
Interpro:  IPR031120  IPR011494  IPR019015  IPR015943  IPR001680  
IPR019775  IPR017986  IPR036322  
Prosite:   PS00678 PS50082 PS50294

PDB:  
2I32 5YJE
PDBsum:   2I32 5YJE

DIP:  

29240

MINT:  
STRING:   ENSP00000263208
Other Databases GeneCards:  HIRA  Malacards:  HIRA

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0042393 histone binding
IDA molecular function
GO:0001085 RNA polymerase II transcr
iption factor binding
IPI molecular function
GO:0000070 mitotic sister chromatid
segregation
IBA biological process
GO:0000417 HIR complex
IBA cellular component
GO:0000790 nuclear chromatin
IBA cellular component
GO:0003714 transcription corepressor
activity
IBA molecular function
GO:0006336 DNA replication-independe
nt nucleosome assembly
IBA biological process
GO:0031935 regulation of chromatin s
ilencing
IBA biological process
GO:0006325 chromatin organization
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0006351 transcription, DNA-templa
ted
IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological process
GO:0006325 chromatin organization
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0003714 transcription corepressor
activity
TAS molecular function
GO:0005634 nucleus
TAS cellular component
GO:0006357 regulation of transcripti
on by RNA polymerase II
TAS biological process
GO:0009653 anatomical structure morp
hogenesis
TAS biological process
GO:0005654 nucleoplasm
TAS cellular component
GO:0005654 nucleoplasm
TAS cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0001649 osteoblast differentiatio
n
IEA biological process
GO:0042692 muscle cell differentiati
on
IEA biological process
GO:0007369 gastrulation
IEA biological process
GO:0000790 nuclear chromatin
IEA cellular component
GO:0016605 PML body
IEA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:1903507 negative regulation of nu
cleic acid-templated tran
scription
IEA biological process
GO:1903507 negative regulation of nu
cleic acid-templated tran
scription
IEA biological process
GO:0032991 protein-containing comple
x
IDA cellular component
GO:0000790 nuclear chromatin
IDA cellular component
GO:0006336 DNA replication-independe
nt nucleosome assembly
IDA biological process
GO:0070062 extracellular exosome
HDA cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract