ID  Q14643;
PN  Inositol 1,4,5-trisphosphate receptor type 1;
GN  ITPR1;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Endoplasmic reticulum membrane {ECO:0000305|PubMed:27108798}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q9TU34}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:27108798}. Note=Endoplasmic reticulum and secretory granules (By similarity). {ECO:0000250|UniProtKB:Q9TU34}.
DR  UNIPROT: Q14643;
DR  UNIPROT: E7EPX7;
DR  UNIPROT: E9PDE9;
DR  UNIPROT: Q14660;
DR  UNIPROT: Q99897;
DR  Pfam: PF08709;
DR  Pfam: PF00520;
DR  Pfam: PF02815;
DR  Pfam: PF08454;
DR  Pfam: PF01365;
DR  PROSITE: PS50919;
DR  OMIM: 117360;
DR  OMIM: 147265;
DR  OMIM: 206700;
DR  OMIM: 606658;
DR  DisGeNET: 3708;
DE  Function: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5- trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO:0000250|UniProtKB:P11881, ECO:0000269|PubMed:27108797}.
DE  Disease: Spinocerebellar ataxia 15 (SCA15) [MIM:606658]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory. {ECO:0000269|PubMed:17590087, ECO:0000269|PubMed:18579805}. Note=The disease is caused by variants affecting the gene represented in this entry. Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: An autosomal dominant, congenital spinocerebellar ataxia characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor. {ECO:0000269|PubMed:22986007, ECO:0000269|PubMed:26770814}. Note=The disease is caused by variants affecting the gene represented in this entry. Gillespie syndrome (GLSP) [MIM:206700]: A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non- progressive ataxia, progressive cerebellar atrophy, and intellectual disability. {ECO:0000269|PubMed:27108797, ECO:0000269|PubMed:27108798}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O14966; IntAct: EBI-21858632; Score: 0.35
DE  Interaction: O95476; IntAct: EBI-27115722; Score: 0.27
DE  Interaction: P04626; IntAct: EBI-25368139; Score: 0.37
DE  Interaction: P10415; IntAct: EBI-15801089; Score: 0.40
DE  Interaction: Q9Y3M8; IntAct: EBI-2649793; Score: 0.37
DE  Interaction: Q9BS26; IntAct: EBI-541636; Score: 0.40
DE  Interaction: A0A6L7HLX1; IntAct: EBI-2831356; Score: 0.00
DE  Interaction: P21796; IntAct: EBI-10637640; Score: 0.38
DE  Interaction: P38646; IntAct: EBI-10637630; Score: 0.38
DE  Interaction: P31749; IntAct: EBI-10638019; Score: 0.54
DE  Interaction: P30405; IntAct: EBI-10637710; Score: 0.27
DE  Interaction: Q9Z1B5; IntAct: EBI-10996176; Score: 0.35
DE  Interaction: Q8VC57; IntAct: EBI-11027413; Score: 0.35
DE  Interaction: Q61879; IntAct: EBI-11041929; Score: 0.35
DE  Interaction: Q9ERG0; IntAct: EBI-11054044; Score: 0.35
DE  Interaction: Q8N3V7; IntAct: EBI-11086992; Score: 0.35
DE  Interaction: Q8VDD5; IntAct: EBI-11092730; Score: 0.35
DE  Interaction: Q9WTI7; IntAct: EBI-11093786; Score: 0.35
DE  Interaction: P56959; IntAct: EBI-11103888; Score: 0.35
DE  Interaction: P47755; IntAct: EBI-11117728; Score: 0.35
DE  Interaction: Q6ZYL4; IntAct: EBI-11129915; Score: 0.35
DE  Interaction: Q9NYY3; IntAct: EBI-11148674; Score: 0.35
DE  Interaction: P35219; IntAct: EBI-21615486; Score: 0.35
DE  Interaction: Q96LR4; IntAct: EBI-21703554; Score: 0.35
DE  Interaction: Q8N1E6; IntAct: EBI-21820146; Score: 0.35
DE  Interaction: A2RU30; IntAct: EBI-21861544; Score: 0.35
DE  Interaction: Q13976; IntAct: EBI-15726455; Score: 0.35
DE  Interaction: O76074; IntAct: EBI-15726508; Score: 0.35
DE  Interaction: Q53ET0; IntAct: EBI-15980837; Score: 0.40
DE  Interaction: Q13557; IntAct: EBI-16812871; Score: 0.35
DE  Interaction: Q15149; IntAct: EBI-20919796; Score: 0.40
DE  Interaction: Q14108; IntAct: EBI-21264396; Score: 0.35
DE  Interaction: Q96GC9; IntAct: EBI-21267986; Score: 0.35
DE  Interaction: Q9NRI5; IntAct: EBI-21379742; Score: 0.00
DE  Interaction: O43561; IntAct: EBI-22080929; Score: 0.40
DE  Interaction: Q9HD36; IntAct: EBI-22188044; Score: 0.66
DE  Interaction: O43865; IntAct: EBI-22188149; Score: 0.50
DE  Interaction: Q9C0B5; IntAct: EBI-25636144; Score: 0.35
DE  Interaction: Q13363; IntAct: EBI-27044482; Score: 0.35
DE  Interaction: O75582; IntAct: EBI-28931316; Score: 0.35
DE  Interaction: Q13555; IntAct: EBI-28939534; Score: 0.35
GO  GO:0005955;
GO  GO:0030659;
GO  GO:0005783;
GO  GO:0005789;
GO  GO:0016021;
GO  GO:0016020;
GO  GO:0005637;
GO  GO:0005730;
GO  GO:0048471;
GO  GO:0031088;
GO  GO:0031094;
GO  GO:0031095;
GO  GO:0014069;
GO  GO:0016529;
GO  GO:0098685;
GO  GO:0030667;
GO  GO:0030658;
GO  GO:0019855;
GO  GO:0005509;
GO  GO:0015085;
GO  GO:0015278;
GO  GO:0070679;
GO  GO:0098695;
GO  GO:0005220;
GO  GO:0035091;
GO  GO:0019904;
GO  GO:0006816;
GO  GO:0000902;
GO  GO:0032469;
GO  GO:0042045;
GO  GO:0070059;
GO  GO:0050849;
GO  GO:0009791;
GO  GO:0010506;
GO  GO:0051209;
GO  GO:0001666;
GO  GO:0007165;
GO  GO:0050882;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKAAKPGA
SQ  NSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSW
SQ  FYIQPFYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVV
SQ  RLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDP
SQ  DFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVH
SQ  STNIPIDKEEEKPVMLKIGTSPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDL
SQ  VYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVL
SQ  RHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEIDTFVSLVRKNREPRFLDYLSDLCVS
SQ  MNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLFWRDSNKEIRSKSVRELAQDA
SQ  KEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMSDENLPYDLRASFCRLMLHMHVDRDPQEQVT
SQ  PVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEFVEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFY
SQ  NFSDLLRLTKILLAILDCVHVTTIFPISKMAKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAA
SQ  PEGNVKQAEPEKEDIMVMDTKLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDF
SQ  EHIEEQAEGIFGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVD
SQ  NYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEILIRLSKLCVQE
SQ  SASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQNQALLHKHINLFLNPGILEA
SQ  VTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEGKFIKKCQDMVMAELVNSGEDVLVFYNDRAS
SQ  FQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNVYTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCY
SQ  VDTEVEMKEIYTSNHMWKLFENFLVDICRACNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQ
SQ  LLQGVFRVYHCNWLMPSQKASVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVL
SQ  AASRDYRNIIERLQDIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKL
SQ  CIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKRGEALRQVLVNRYYGNVRPSG
SQ  RRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNLVIDLIMNASSDRVFHESILLAIALL
SQ  EGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEV
SQ  RDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQN
SQ  NKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILN
SQ  DINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNV
SQ  GHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTE
SQ  RDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGL
SQ  LWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEF
SQ  LYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFILEVD
SQ  RLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDV
SQ  LRKPSKEEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHI
SQ  KEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNL
SQ  SGQLSELKDQMTEQRKQKQRIGLLGHPPHMNVNPQQPA
//