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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3708
Gene name Gene Name - the full gene name approved by the HGNC.	Inositol 1,4,5-trisphosphate receptor type 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ITPR1
Synonyms (NCBI Gene) Gene synonyms aliases	ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p26.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41289628	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs41304179	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs61757108	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs61757111	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs121912425	C>T	Pathogenic	Missense variant, coding sequence variant
rs182840163	C>T	Likely-pathogenic, benign, likely-benign	Coding sequence variant, synonymous variant
rs200335594	T>C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs371988852	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs397514535	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397514536	A>G	Pathogenic	Missense variant, coding sequence variant
rs556943368	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs752281590	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs797044955	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863224882	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs869312685	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853171	C>T	Pathogenic	Stop gained, coding sequence variant
rs878853172	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs878853173	A>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853174	G>T	Pathogenic	Genic downstream transcript variant, intron variant
rs878853175	AAG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs878853176	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs878853177	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886039392	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886058579	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs1057518026	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064796252	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796337	G>C	Pathogenic	Splice acceptor variant
rs1085308010	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1114167316	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691473	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1131691919	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1249951465	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1322796318	A>G	Pathogenic	Missense variant, coding sequence variant
rs1553654413	CGTA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553666546	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1553683825	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553689752	->TATA	Pathogenic	Frameshift variant, coding sequence variant
rs1553756062	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1553758021	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1559603328	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1559638068	A>T	Pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003225	hsa-miR-424-5p	Luciferase reporter assay	20065103
MIRT017604	hsa-miR-335-5p	Microarray	18185580
MIRT019619	hsa-miR-340-5p	Sequencing	20371350
MIRT022001	hsa-miR-128-3p	Sequencing	20371350
MIRT028366	hsa-miR-32-5p	Sequencing	20371350
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162735	hsa-miR-204-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT162736	hsa-miR-211-5p	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438780	hsa-miR-448	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438777	hsa-miR-449a	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438776	hsa-miR-34b-3p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438773	hsa-miR-34c-5p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT438771	hsa-miR-494-3p	qRT-PCR, Western blot	24960059
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT092190	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT092194	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT092191	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT092195	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT162697	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT162698	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT092182	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT092186	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028366	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT092181	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT092185	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT092184	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT028366	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT092189	hsa-miR-4803	PAR-CLIP	20371350
MIRT475080	hsa-miR-3163	PAR-CLIP	20371350
MIRT092187	hsa-miR-4328	PAR-CLIP	20371350
MIRT019619	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT092181	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT092185	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT092184	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT028366	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT092189	hsa-miR-4803	PAR-CLIP	21572407
MIRT475080	hsa-miR-3163	PAR-CLIP	21572407
MIRT092187	hsa-miR-4328	PAR-CLIP	21572407
MIRT019619	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT092181	hsa-miR-25-3p	PAR-CLIP	23592263
MIRT092186	hsa-miR-92b-3p	PAR-CLIP	23592263
MIRT092182	hsa-miR-92a-3p	PAR-CLIP	23592263
MIRT092185	hsa-miR-367-3p	PAR-CLIP	23592263
MIRT092184	hsa-miR-363-3p	PAR-CLIP	23592263
MIRT028366	hsa-miR-32-5p	PAR-CLIP	23592263
MIRT092189	hsa-miR-4803	PAR-CLIP	23592263
MIRT475080	hsa-miR-3163	PAR-CLIP	23592263
MIRT092187	hsa-miR-4328	PAR-CLIP	23592263
MIRT019619	hsa-miR-340-5p	PAR-CLIP	23592263
MIRT1074979	hsa-miR-1197	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT1074983	hsa-miR-3117-3p	CLIP-seq
MIRT1074984	hsa-miR-329	CLIP-seq
MIRT1074985	hsa-miR-3607-5p	CLIP-seq
MIRT1074986	hsa-miR-362-3p	CLIP-seq
MIRT1074987	hsa-miR-376c	CLIP-seq
MIRT1074988	hsa-miR-4287	CLIP-seq
MIRT1074989	hsa-miR-4300	CLIP-seq
MIRT1074990	hsa-miR-4501	CLIP-seq
MIRT1074991	hsa-miR-4504	CLIP-seq
MIRT1074992	hsa-miR-4685-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074996	hsa-miR-542-3p	CLIP-seq
MIRT1074997	hsa-miR-651	CLIP-seq
MIRT1074998	hsa-miR-920	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075002	hsa-miR-1262	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075014	hsa-miR-203	CLIP-seq
MIRT1075015	hsa-miR-224	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT1075020	hsa-miR-3646	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT1075024	hsa-miR-4274	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075027	hsa-miR-4519	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT1075029	hsa-miR-4662a-5p	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT1075031	hsa-miR-4694-3p	CLIP-seq
MIRT1075032	hsa-miR-4701-3p	CLIP-seq
MIRT1075033	hsa-miR-4719	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075036	hsa-miR-522	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT1075001	hsa-miR-125a-3p	CLIP-seq
MIRT1075004	hsa-miR-1297	CLIP-seq
MIRT1075005	hsa-miR-130a	CLIP-seq
MIRT1075006	hsa-miR-130b	CLIP-seq
MIRT1075012	hsa-miR-19a	CLIP-seq
MIRT1075013	hsa-miR-19b	CLIP-seq
MIRT1075016	hsa-miR-26a	CLIP-seq
MIRT1075017	hsa-miR-26b	CLIP-seq
MIRT1075018	hsa-miR-301a	CLIP-seq
MIRT1075019	hsa-miR-301b	CLIP-seq
MIRT2018594	hsa-miR-3160-5p	CLIP-seq
MIRT1075021	hsa-miR-3666	CLIP-seq
MIRT2018595	hsa-miR-3667-3p	CLIP-seq
MIRT1075022	hsa-miR-3934	CLIP-seq
MIRT1075025	hsa-miR-4295	CLIP-seq
MIRT1075026	hsa-miR-4465	CLIP-seq
MIRT1075028	hsa-miR-454	CLIP-seq
MIRT2018596	hsa-miR-4540	CLIP-seq
MIRT2018597	hsa-miR-4652-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1075038	hsa-miR-764	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT1074993	hsa-miR-519a	CLIP-seq
MIRT1074994	hsa-miR-519b-3p	CLIP-seq
MIRT1074995	hsa-miR-519c-3p	CLIP-seq
MIRT1074999	hsa-miR-103a	CLIP-seq
MIRT1075000	hsa-miR-107	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT1075003	hsa-miR-1271	CLIP-seq
MIRT1075007	hsa-miR-15a	CLIP-seq
MIRT1075008	hsa-miR-15b	CLIP-seq
MIRT1075009	hsa-miR-16	CLIP-seq
MIRT1075010	hsa-miR-182	CLIP-seq
MIRT1075011	hsa-miR-195	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2554001	hsa-miR-3680	CLIP-seq
MIRT1075023	hsa-miR-424	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT1075030	hsa-miR-4666-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2250423	hsa-miR-4738-3p	CLIP-seq
MIRT2554005	hsa-miR-4775	CLIP-seq
MIRT2554006	hsa-miR-4802-3p	CLIP-seq
MIRT1075034	hsa-miR-488	CLIP-seq
MIRT1075035	hsa-miR-497	CLIP-seq
MIRT2554007	hsa-miR-556-3p	CLIP-seq
MIRT1075037	hsa-miR-579	CLIP-seq
MIRT2554008	hsa-miR-590-3p	CLIP-seq
MIRT1075039	hsa-miR-885-3p	CLIP-seq
MIRT2554009	hsa-miR-889	CLIP-seq
MIRT1075040	hsa-miR-96	CLIP-seq
MIRT2553999	hsa-miR-1185	CLIP-seq
MIRT1074980	hsa-miR-1226	CLIP-seq
MIRT2683023	hsa-miR-1246	CLIP-seq
MIRT2683024	hsa-miR-1279	CLIP-seq
MIRT2683025	hsa-miR-153	CLIP-seq
MIRT1074981	hsa-miR-204	CLIP-seq
MIRT1074982	hsa-miR-211	CLIP-seq
MIRT2683026	hsa-miR-3117-5p	CLIP-seq
MIRT2683027	hsa-miR-3140-5p	CLIP-seq
MIRT2683028	hsa-miR-3187-3p	CLIP-seq
MIRT2554000	hsa-miR-3679-5p	CLIP-seq
MIRT2683029	hsa-miR-3942-3p	CLIP-seq
MIRT2683030	hsa-miR-412	CLIP-seq
MIRT2554002	hsa-miR-4252	CLIP-seq
MIRT2683031	hsa-miR-4435	CLIP-seq
MIRT2683032	hsa-miR-4457	CLIP-seq
MIRT2683033	hsa-miR-4474-3p	CLIP-seq
MIRT2683034	hsa-miR-4528	CLIP-seq
MIRT2683035	hsa-miR-4530	CLIP-seq
MIRT2683036	hsa-miR-4698	CLIP-seq
MIRT2683037	hsa-miR-4701-5p	CLIP-seq
MIRT2554003	hsa-miR-4729	CLIP-seq
MIRT2554004	hsa-miR-4733-3p	CLIP-seq
MIRT2683038	hsa-miR-4755-5p	CLIP-seq
MIRT2683039	hsa-miR-4760-3p	CLIP-seq
MIRT2683040	hsa-miR-4764-5p	CLIP-seq
MIRT2683041	hsa-miR-4778-3p	CLIP-seq
MIRT2683042	hsa-miR-509-3p	CLIP-seq
MIRT2683043	hsa-miR-513b	CLIP-seq
MIRT2683044	hsa-miR-548aa	CLIP-seq
MIRT2683045	hsa-miR-548s	CLIP-seq
MIRT2683046	hsa-miR-576-5p	CLIP-seq
MIRT2683047	hsa-miR-586	CLIP-seq
MIRT2683048	hsa-miR-588	CLIP-seq
MIRT2683049	hsa-miR-617	CLIP-seq
MIRT2683050	hsa-miR-623	CLIP-seq
MIRT2683051	hsa-miR-654-3p	CLIP-seq
MIRT2683052	hsa-miR-664	CLIP-seq
MIRT2683053	hsa-miR-760	CLIP-seq

Show/Hide all(95)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001666	Process	Response to hypoxia	IDA	19120137
GO:0001666	Process	Response to hypoxia	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IBA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IDA	10620513, 36376291
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IEA
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	IMP	27108797
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	ISS
GO:0005220	Function	Inositol 1,4,5-trisphosphate-gated calcium channel activity	TAS	8648241
GO:0005262	Function	Calcium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005515	Function	Protein binding	IPI	16793548, 19220705, 20010695, 22045699, 23884412, 27995898
GO:0005524	Function	ATP binding	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	NAS	8648241
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	7852357, 27108798
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005955	Component	Calcineurin complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	NAS	7852357
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	NAS	8648241
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	ISS
GO:0009791	Process	Post-embryonic development	IEA
GO:0010506	Process	Regulation of autophagy	TAS	22770472
GO:0014069	Component	Postsynaptic density	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	IEA
GO:0015085	Function	Calcium ion transmembrane transporter activity	TAS	7500840
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
GO:0015278	Function	Intracellularly gated calcium channel activity	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019855	Function	Calcium channel inhibitor activity	IDA	16793548
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
GO:0031088	Component	Platelet dense granule membrane	IDA	10828023
GO:0031094	Component	Platelet dense tubular network	IDA	10828023
GO:0031095	Component	Platelet dense tubular network membrane	IEA
GO:0031095	Component	Platelet dense tubular network membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0036444	Process	Calcium import into the mitochondrion	ISS
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	29907098
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050849	Process	Negative regulation of calcium-mediated signaling	IDA	16793548
GO:0050882	Process	Voluntary musculoskeletal movement	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	10620513
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051289	Process	Protein homotetramerization	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IEA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098695	Function	Inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1903514	Process	Release of sequestered calcium ion into cytosol by endoplasmic reticulum	IDA	36376291
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

MIM	HGNC	e!Ensembl
147265	6180	ENSG00000150995

Protein

UniProt ID

Q14643

Protein name

Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Inositol 1,4,5 trisphosphate receptor) (Inositol 1,4,5-trisphosphate receptor type 1) (Type 1 inositol 1,4,5-trisphosphate receptor) (Type 1 InsP3 recept

Protein function

Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER) (PubMed:10620513, PubMed:27108797). Undergoes conformational changes upon ligand bin

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08709	Ins145_P3_rec	4 → 229	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
PF02815	MIR	232 → 433	MIR domain	Domain
PF01365	RYDR_ITPR	474 → 670	RIH domain	Family
PF01365	RYDR_ITPR	1194 → 1354	RIH domain	Family
PF08454	RIH_assoc	1968 → 2078	RyR and IP3R Homology associated	Family
PF00520	Ion_trans	2320 → 2609	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:7500840}.

Sequence

MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKL
CPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNV
IQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGD
KVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVV
RLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWN
SLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPE
GNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGT
SPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDL
VYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEE
LGDQRHAPFRHICRLCYRVLRHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLH
NNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVSMNKSIPVTQELICKAVLNPT
NADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRA
SFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEF
VEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVH
VTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAA
PEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSE
TSSGNSSQEGPSNVPGALDFEHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMH
DYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVDNYKQIKQDLDQLRSIVEKSE
LWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQE
SASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQ
NQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIK
FLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSP
LMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCY
VDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFF
SSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAI
PVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNIIERLQDIVSAL
EDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKL
CIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKR
GEALRQVLVNRYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSL
AEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKK
SEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEV
RDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRF
LQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVAL
INQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNA
SKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNV
GHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPV
PSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARN
MSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHG
IRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEF
LYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILV
YLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPRE
ELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLL
FFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHI
KEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQ
NELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA

Sequence length

2758

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system Oocyte meiosis Autophagy - animal Apoptosis Cellular senescence Vascular smooth muscle contraction Apelin signaling pathway Osteoclast differentiation Gap junction Platelet activation NOD-like receptor signaling pathway C-type lectin receptor signaling pathway Circadian entrainment Long-term potentiation Retrograde endocannabinoid signaling Glutamatergic synapse Cholinergic synapse Serotonergic synapse Dopaminergic synapse Long-term depression Inflammatory mediator regulation of TRP channels GnRH signaling pathway Estrogen signaling pathway Thyroid hormone synthesis Oxytocin signaling pathway Glucagon signaling pathway Renin secretion Aldosterone synthesis and secretion Cortisol synthesis and secretion Parathyroid hormone synthesis, secretion and action GnRH secretion Cushing syndrome Growth hormone synthesis, secretion and action Salivary secretion Gastric acid secretion Pancreatic secretion Alzheimer disease Parkinson disease Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Shigellosis Human cytomegalovirus infection Kaposi sarcoma-associated herpesvirus infection Human immunodeficiency virus 1 infection Proteoglycans in cancer Lipid and atherosclerosis		Effects of PIP2 hydrolysis Elevation of cytosolic Ca2+ levels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion cGMP effects Ion homeostasis Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Gillespie Syndrome	gillespie syndrome	rs1553758021, rs752281590, rs878853171, rs878853172, rs878853173, rs1559638068, rs878853174, rs886039392, rs878853175, rs878853176, rs1553654413, rs878853177, rs1553689752	N/A
Spinocerebellar Ataxia	spinocerebellar ataxia type 29, spinocerebellar ataxia type 15/16	rs752281590, rs1553756062, rs863224882, rs869312685, rs1553758021, rs1559718601, rs1114167316, rs797044955, rs886039392, rs121912425, rs1559603328, rs397514535, rs397514536, rs1322796318	N/A
anterior segment dysgenesis	Anterior segment dysgenesis	rs752281590	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Breast cancer	N/A	N/A	GWAS
Cerebellar Ataxia	Autosomal dominant cerebellar ataxia	N/A	N/A	ClinVar
cerebellar ataxia	Cerebellar ataxia	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Multiple Sclerosis	multiple sclerosis, Multiple sclerosis	N/A	N/A	ClinVar, GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS
Spastic Ataxia	spastic ataxia	N/A	N/A	ClinVar
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	32869505, 32998713
Alzheimer Disease	Associate	33213512
Amyotrophic Lateral Sclerosis	Associate	30778698
Aniridia cerebellar ataxia mental deficiency	Associate	27108797, 28698159, 30249237, 33949769, 35118825, 35743164, 37705153
Ataxia	Associate	21555639, 28698159, 29196976, 29925855, 36233161, 37821226
Autism Spectrum Disorder	Associate	32807774
Autistic Disorder	Associate	32499604
Azoospermia	Associate	38072953
Breast Neoplasms	Associate	32649310, 35328381, 37391438
Breast Neoplasms	Inhibit	33742056, 35313846
Cerebellar Ataxia	Associate	21555639, 22986007, 28698159, 29186133
Cerebellar Diseases	Associate	28698159, 35743164, 36233161
Cerebellar Hypoplasia	Associate	35743164, 36305856
Cerebral Palsy Ataxic Autosomal Recessive	Associate	25981959
Cognition Disorders	Associate	29196976, 33942972
Developmental Disabilities	Associate	33168985
Edema	Associate	25069764
Esophageal Squamous Cell Carcinoma	Associate	35611939, 35839283
Facial Pain	Associate	37821226
Fever	Stimulate	11861640
Goldenhar Syndrome	Associate	37821226
Heart Failure	Associate	22701570
Huntington Disease	Associate	36902304
Hydrops Fetalis	Associate	37705153
Intellectual Disability	Associate	37821226
Iris Diseases	Associate	28698159
Leukemia Lymphoma Adult T Cell	Associate	37832654
Lymphoma Large B Cell Diffuse	Associate	23681227
Machado Joseph Disease	Associate	20437544
Malformations of Cortical Development	Associate	36233161
Melanoma Cutaneous Malignant	Associate	30596980
Neoplasm Metastasis	Stimulate	35313846
Neoplasm Metastasis	Associate	37820992
Neoplasms	Associate	23681227
Osteosarcoma	Associate	37353812
Pre Eclampsia	Inhibit	20178461
Progeria	Associate	34298947
Prostatic Neoplasms	Associate	25740420
Renal Insufficiency	Associate	38072953
Reticular dysgenesis	Associate	40064387
Sezary Syndrome	Associate	27039262
Sleep Deprivation	Associate	25740420
Small Cell Lung Carcinoma	Stimulate	37820992
Spastic Paraplegia Hereditary	Associate	30778698
Spinocerebellar Ataxia 11	Associate	37301203
Spinocerebellar Ataxia 15	Associate	21555639, 22986007, 37705153
Spinocerebellar Ataxia 29	Associate	22986007, 29196976, 29925855, 30429331, 37705153, 37821226
Spinocerebellar Ataxias	Associate	35743164, 37301203, 37821226, 39456985
Spinocerebellar Degenerations	Associate	29186133, 29925855, 30429331
Squamous Cell Carcinoma of Head and Neck	Associate	33227411
Thyroid Neoplasms	Associate	35459137
Vitiligo	Associate	36157881

ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)