Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7290
Gene name	Histone cell cycle regulator
Gene symbol	HIRA
Synonyms (NCBI Gene)	DGCR1TUP1TUPLE1
Chromosome	22
Chromosome location	22q11.21
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 imp

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050759	hsa-miR-17-3p	CLASH	23622248
MIRT037000	hsa-miR-877-3p	CLASH	23622248
MIRT1047409	hsa-miR-1200	CLIP-seq
MIRT1047410	hsa-miR-1827	CLIP-seq
MIRT1047411	hsa-miR-4324	CLIP-seq
MIRT1047412	hsa-miR-4649-3p	CLIP-seq
MIRT1047413	hsa-miR-4667-3p	CLIP-seq
MIRT1047414	hsa-miR-544b	CLIP-seq
MIRT2010749	hsa-miR-1286	CLIP-seq
MIRT2010750	hsa-miR-138	CLIP-seq
MIRT2010751	hsa-miR-1913	CLIP-seq
MIRT2010752	hsa-miR-1976	CLIP-seq
MIRT2010753	hsa-miR-2054	CLIP-seq
MIRT2010754	hsa-miR-324-3p	CLIP-seq
MIRT2010755	hsa-miR-4276	CLIP-seq
MIRT2010756	hsa-miR-4280	CLIP-seq
MIRT2010757	hsa-miR-4302	CLIP-seq
MIRT2010758	hsa-miR-4436a	CLIP-seq
MIRT2010759	hsa-miR-4718	CLIP-seq
MIRT2010760	hsa-miR-4722-5p	CLIP-seq
MIRT2010761	hsa-miR-513a-3p	CLIP-seq
MIRT2010762	hsa-miR-548q	CLIP-seq
MIRT2010763	hsa-miR-622	CLIP-seq
MIRT2010764	hsa-miR-944	CLIP-seq
MIRT2243029	hsa-miR-103a	CLIP-seq
MIRT2243030	hsa-miR-107	CLIP-seq
MIRT2243031	hsa-miR-1184	CLIP-seq
MIRT1047409	hsa-miR-1200	CLIP-seq
MIRT2243032	hsa-miR-15a	CLIP-seq
MIRT2243033	hsa-miR-15b	CLIP-seq
MIRT2243034	hsa-miR-16	CLIP-seq
MIRT1047410	hsa-miR-1827	CLIP-seq
MIRT2243035	hsa-miR-195	CLIP-seq
MIRT2010753	hsa-miR-2054	CLIP-seq
MIRT2243036	hsa-miR-24	CLIP-seq
MIRT2243037	hsa-miR-342-3p	CLIP-seq
MIRT2243038	hsa-miR-3679-3p	CLIP-seq
MIRT2243039	hsa-miR-424	CLIP-seq
MIRT2243040	hsa-miR-4284	CLIP-seq
MIRT2243041	hsa-miR-4320	CLIP-seq
MIRT1047411	hsa-miR-4324	CLIP-seq
MIRT1047412	hsa-miR-4649-3p	CLIP-seq
MIRT1047413	hsa-miR-4667-3p	CLIP-seq
MIRT2243042	hsa-miR-4719	CLIP-seq
MIRT2243043	hsa-miR-4763-5p	CLIP-seq
MIRT2243044	hsa-miR-4768-5p	CLIP-seq
MIRT2243045	hsa-miR-497	CLIP-seq
MIRT1047414	hsa-miR-544b	CLIP-seq
MIRT2243046	hsa-miR-550a	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000417	Component	HIR complex	IBA
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	14718166
GO:0000785	Component	Chromatin	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	9731536
GO:0005515	Function	Protein binding	IPI	9710638, 11342215, 16980972, 19029251, 24981860, 26496610, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9710638
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IDA	14718166
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9731536
GO:0007369	Process	Gastrulation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	7633437
GO:0016605	Component	PML body	IEA
GO:0031491	Function	Nucleosome binding	IBA
GO:0032991	Component	Protein-containing complex	IDA	14718166
GO:0042393	Function	Histone binding	IDA	9731536
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9731536
GO:0070062	Component	Extracellular exosome	HDA	18570454

MIM	HGNC	e!Ensembl
600237	4916	ENSG00000100084

P54198

Protein name

Protein HIRA (TUP1-like enhancer of split protein 1)

Protein 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

PDB

2I32 , 5YJE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	4 → 44	WD domain, G-beta repeat	Repeat
PF00400	WD40	61 → 98	WD domain, G-beta repeat	Repeat
PF00400	WD40	121 → 159	WD domain, G-beta repeat	Repeat
PF00400	WD40	164 → 202	WD domain, G-beta repeat	Repeat
PF07569	Hira	764 → 962	TUP1-like enhancer of split	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in kidney, pancreas and skeletal muscle and at lower levels in brain, heart, liver, lung, and placenta. {ECO:0000269|PubMed:9063745}.

Sequence

MKLLKPTWVNHNGKPIFSVDIHPDGTKFATGGQGQDSGKVVIWNMSPVLQEDDEKDENIP
KMLCQMDNHLACVNCVRWSNSGMYLASGGDDKLIMVWKRATYIGPSTVFGSSGKLANVEQ
WRCVSILRNHSGDVMDVAWSPHDAWLASCSVDNTVVIWNAVKFPEILATLRGHSGLVKGL
TWDPVGKYIASQADDRSLKVWRTLDWQLETSITKPFDECGGTTHVLRLSWSPDGHYLVSA
HAMNNSGPTAQIIEREGWKTNMDFVGHRKAVTVVKFNPKIFKKKQKNGSSAKPSCPYCCC
AVGSKDRSLSVWLTCLKRPLVVIHELFDKSIMDISWTLNGLGILVCSMDGSVAFLDFSQD
ELGDPLSEEEKSRIHQSTYGKSLAIMTEAQLSTAVIENPEMLKYQRRQQQQQLDQKSAAT
REMGSATSVAGVVNGESLEDIRKNLLKKQVETRTADGRRRITPLCIAQLDTGDFSTAFFN
SIPLSGSLAGTMLSSHSSPQLLPLDSSTPNSFGASKPCTEPVVAASARPAGDSVNKDSMN
ATSTPAALSPSVLTTPSKIEPMKAFDSRFTERSKATPGAPALTSMTPTAVERLKEQNLVK
ELRPRDLLESSSDSDEKVPLAKASSLSKRKLELEVETVEKKKKGRPRKDSRLMPVSLSVQ
SPAALTAEKEAMCLSAPALALKLPIPSPQRAFTLQVSSDPSMYIEVENEVTVVGGVKLSR
LKCNREGKEWETVLTSRILTAAGSCDVVCVACEKRMLSVFSTCGRRLLSPILLPSPISTL
HCTGSYVMALTAAATLSVWDVHRQVVVVKEESLHSILAGSDMTVSQILLTQHGIPVMNLS
DGKAYCFNPSLSTWNLVSDKQDSLAQCADFRSSLPSQDAMLCSGPLAIIQGRTSNSGRQA
ARLFSVPHVVQQETTLAYLENQVAAALTLQSSHEYRHWLLVYARYLVNEGFEYRLREICK
DLLGPVHYSTGSQWESTVVGLRKRELLKELLPVIGQNLRFQRLFTECQEQLDILRDK

Sequence length

1017

Interactions

View interactions

	Reactome
			Formation of Senescence-Associated Heterochromatin Foci (SAHF)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs116388467	RCV005909854
Cholangiocarcinoma	Benign	rs45498292	RCV005914545
Clear cell carcinoma of kidney	Likely benign	rs202083166	RCV005906702
Fanconi anemia complementation group T	Uncertain significance	rs2517454905	RCV004527540
Gastric cancer	Benign	rs116388467	RCV005909855
Hepatocellular carcinoma	Benign	rs116388467	RCV005909853
HIRA-related disorder	Benign; Uncertain significance; Likely benign	rs535003721, rs2517473796, rs782354381, rs769770746, rs983308269, rs757021191, rs147406287, rs199687182, rs542483820, rs116694036, rs116388467, rs20550, rs141578108, rs34000365, rs143858430 View all (8 more)	RCV004542081 RCV003475817 RCV004539519 RCV004540919 RCV004532155 RCV004542416 RCV004532140 RCV004543974 RCV004532122 RCV004539524 RCV004545656 RCV004533694 RCV004533695 RCV004535954 RCV004530942 RCV004530952 RCV004530914 RCV004541890 RCV004541885 RCV004533561 RCV004533518 RCV004533577 RCV004533669 RCV004535955
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs116388467, rs202083166	RCV005909856 RCV005906703
Prostate cancer	Uncertain significance	rs193920856	RCV000149148
Thymoma	Benign	rs45498292	RCV005914544
Thyroid cancer, nonmedullary, 1	Benign	rs116388467	RCV005909857
Uterine carcinosarcoma	Benign	rs45498292	RCV005914543

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
22q11 Deletion Syndrome	Associate	27748330
Colorectal Neoplasms	Associate	30365520
Connective Tissue Diseases	Associate	22208759
Conotruncal cardiac defects	Associate	27748330
Diabetes Mellitus Type 2	Associate	1711209, 7681983
DiGeorge Syndrome	Inhibit	20430655
DiGeorge Syndrome	Associate	39842802, 8681138, 9326327
Ependymoma	Associate	25909290
Genetic Diseases Inborn	Associate	22208759
Heart Septal Defects Ventricular	Associate	19268070
Heredodegenerative Disorders Nervous System	Associate	22208759
Mullerian aplasia	Associate	35361250
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	22208759
Neoplasms	Associate	33046907
Tetralogy of Fallot	Associate	27748330
Tetralogy of fallot and glaucoma	Associate	11339381

HIRA (histone cell cycle regulator)