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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7290
Gene name Gene Name - the full gene name approved by the HGNC.	Histone cell cycle regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HIRA
Synonyms (NCBI Gene) Gene synonyms aliases	DGCR1, TUP1, TUPLE1
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21
Summary Summary of gene provided in NCBI Entrez 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 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(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000417	Component	HIR complex	IBA	21873635
GO:0000785	Component	Chromatin	IDA	14718166
GO:0001085	Function	RNA polymerase II transcription factor binding	IPI	9731536
GO:0005515	Function	Protein binding	IPI	9710638, 11342215, 16980972, 19029251, 24981860, 26496610
GO:0005634	Component	Nucleus	TAS	9710638
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006336	Process	DNA replication-independent nucleosome assembly	IBA	21873635
GO:0006336	Process	DNA replication-independent nucleosome assembly	IDA	14718166
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9731536
GO:0009653	Process	Anatomical structure morphogenesis	TAS	7633437
GO:0016605	Component	PML body	IEA
GO:0031491	Function	Nucleosome binding	IBA	21873635
GO:0032991	Component	Protein-containing complex	IDA	14718166
GO:0042393	Function	Histone binding	IDA	9731536
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454

MIM	HGNC	e!Ensembl
600237	4916	ENSG00000100084

Protein

UniProt ID

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 Causal Diseases (30)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362	15177686
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466	15177686
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hyperthyroidism	Hyperthyroidism	rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Persistent truncus arteriosus	Truncus Arteriosus, Persistent	rs267606914, rs1598737972, rs387906813
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096 View all (740 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (13)

Disease term	Disease name	Evidence	Source
Unknown
22q11.2 deletion syndrome	22q11.2 deletion syndrome		ClinVar
Asthma	Asthma		ClinVar
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		ClinVar
Major affective disorder	MAJOR AFFECTIVE DISORDER 2, MAJOR AFFECTIVE DISORDER 1, MAJOR AFFECTIVE DISORDER 4, MAJOR AFFECTIVE DISORDER 6, MAJOR AFFECTIVE DISORDER 7, MAJOR AFFECTIVE DISORDER 8, MAJOR AFFECTIVE DISORDER 9		ClinVar
Mental depression	Depressive disorder		ClinVar
Otitis media	Chronic otitis media		ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney		ClinVar
Specific learning disorder	Specific learning disability		ClinVar
Neurodevelopmental Disorders	neurodevelopmental disorder		GenCC
Coronary artery disease	Coronary artery disease		GWAS
Alzheimer disease	Alzheimer disease		GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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)