• Gene id: 3708

Gene Summary

• Gene Symbol: ITPR1   Gene   UCSC   Ensembl
• Aliases: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
• Gene name: inositol 1,4,5-trisphosphate receptor type 1
• Alternate names: inositol 1,4,5-trisphosphate receptor type 1, IP3 receptor, IP3R 1, inositol 1,4,5-triphosphate receptor, type 1, protein phosphatase 1, regulatory subunit 94, type 1 InsP3 receptor, type 1 inositol 1,4,5-trisphosphate receptor,
• Gene location: 3p26.1 (4493347: 4847839)     Exons: 63     NC_000003.12
• Gene summary(Entrez): This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type
• OMIM: 147265

Protein Summary

• Protein general information: Q14643  
  • Name: Inositol 1,4,5 trisphosphate receptor type 1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Type 1 inositol 1,4,5 trisphosphate receptor) (Type 1 InsP3 receptor)
  • Length: 2758  
  • Mass: 313929
  • Tissue specificity: Widely expressed.
• Sequence:

  MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
  AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVT
  LDEAGNEGSWFYIQPFYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMK
  WSDNKDDILKGGDVVRLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWN
  SLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTL
  RGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDAS
  KVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQA
  PFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLH
  NNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRF
  EFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDAKEGQKEDRDVLSYYRYQLNLFARMCLDRQY
  LAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGA
  SKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
  VTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDI
  MVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGI
  FGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQI
  KQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQE
  SASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQNQALLHKHINLFLNP
  GILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAELVNSGED
  VLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCI
  PEVKIAYINFLNHCYVDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFF
  SSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKS
  HSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENT
  DARRKCESGGFICKLIKHTKQLLEENEEKLCIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEE
  LEPSPPLRQLEDHKRGEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
  AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVA
  QQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQP
  GEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGG
  LGLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNA
  SKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHN
  KELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKIND
  FFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGLLWTAM
  LISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEF
  LYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDF
  ILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHG
  LRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLE
  RDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQ
  NELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA

• Structural information:
  • Protein Domains: (112..16-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (173..22-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (231..28-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (-)
  • Interpro: IPR016024  IPR014821  IPR000493  IPR005821  IPR036300   IPR016093  IPR013662  IPR000699  IPR035910  
  • Prosite: PS50919
  • DIP: 29714
  • STRING: ENSP00000306253
• Other Databases: GeneCards:  ITPR1  Malacards:  ITPR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0010506	regulation of autophagy	TAS	biological process
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IBA	cellular component
GO:0070679	inositol 1,4,5 trisphosphate binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0030667	secretory granule membrane	IBA	cellular component
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS	biological process
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	ISS	biological process
GO:0035091	phosphatidylinositol binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015278	calcium-release channel activity	ISS	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:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0070679	inositol 1,4,5 trisphosphate binding	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015085	calcium ion transmembrane transporter activity	TAS	molecular function
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030168	platelet activation	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
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:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA	biological process
GO:0050882	voluntary musculoskeletal movement	IEA	biological process
GO:0042045	epithelial fluid transport	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0009791	post-embryonic development	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005955	calcineurin complex	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0098695	inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels	IEA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IEA	biological process
GO:0015278	calcium-release channel activity	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0001666	response to hypoxia	IDA	biological process
GO:0031088	platelet dense granule membrane	IDA	cellular component
GO:0031094	platelet dense tubular network	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0019855	calcium channel inhibitor activity	IDA	molecular function
GO:0050849	negative regulation of calcium-mediated signaling	IDA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0048016	inositol phosphate-mediated signaling	IEA	biological process
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006816	calcium ion transport	NAS	biological process
GO:0005220	inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05131	Shigellosis
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa05170	Human immunodeficiency virus 1 infection
hsa05205	Proteoglycans in cancer
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04621	NOD-like receptor signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04934	Cushing syndrome
hsa04140	Autophagy - animal
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04218	Cellular senescence
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04114	Oocyte meiosis
hsa04611	Platelet activation
hsa04210	Apoptosis
hsa04725	Cholinergic synapse
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04922	Glucagon signaling pathway
hsa04713	Circadian entrainment
hsa04625	C-type lectin receptor signaling pathway
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04912	GnRH signaling pathway
hsa04540	Gap junction
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04720	Long-term potentiation
hsa04924	Renin secretion
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia type 15	PMID:20082166
Alzheimer's disease	PMID:8819138
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray