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0ITPR1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionInositol 1,4,5-trisphosphate receptor type 1 (type 1 inositol 1,4,5- trisphosphate receptor) (type 1 insp3 receptor) (ip3 receptor isoform 1) (insp3r1) (ip3r).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005789 endoplasmic reticulum membrane (NAS)
0005887 integral to plasma membrane (TAS)
0015085 calcium ion transporter activity (TAS)
0008095 inositol-1,4,5-triphosphate receptor activity (TAS)
0005515 protein binding (IPI)
0006816 calcium ion transport (NAS)
0007165 signal transduction (NAS)
0006810 transport (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains assigned to SynO:
This is a domain found in ryanodine.nositol trisphosphate receptor and protein O-mannosyltransferase. Inositol 1..-trisphosphate (InsP3) is an intracellular second messenger that transduces growth factor and neurotransmitter signals. InsP3 mediates the release of Ca2+ from intracellular stores by binding to specific Ca2+ channel-coupled receptors. Ryanodine receptors are involved in communication between transverse-tubules and the sarcoplamic reticulum of cardiac and skeletal muscle. The proteins function as a Ca2+-release channels following depolarisation of transverse-tubules . The function is modulated by Ca2+.g2+.TP and calmodulin. Deficiency in the ryanodine receptor may be the cause of malignant hyperthermia (MH) and of central core disease of muscle (CCD) . protein O-mannosyltransferases transfer mannose from DOL-P-mannose to ser or thr residues on proteins.
Inositol 1..-trisphosphate (InsP3) is an intracellular second messengerthat transduces growth factor and neurotransmitter signals. InsP3 mediatesthe release of Ca2+ from intracellular stores by binding to specific Ca2+channel-coupled receptors. One such receptor contains a C-terminal Ca2+channel with 8 possible transmembrane (TM) regions.hile its N-terminalcytoplasmic region houses ligand-binding and modulatory sites . Ca2+appears to inhibit ligand binding.ossibly by interacting with a Ca2+-binding protein that itself inhibits the receptor.The InsP3 receptor is an integral membrane protein located in theendoplasmic reticulum. It is a homotetramer. The protein shows somesimilarity to the ryanodine receptor.hich functions as a Ca2+-releasechannel in the sarcoplasmic reticulum of cardiac and skeletal muscle .
  IPR000493:Inositol 1,4,5-trisphosphate-binding protein receptor
InterPro domains unassigned to SynO:
This eukaryotic domain is found in ryanodine receptors (RyR) and inositol 1..-trisphosphate receptors (IP3R) which together form a superfamily of homotetrameric ligand-gated intracellular Ca2+ channels . There seems to be no known function for this domain . Also see the IP3-binding domain and .
  IPR013662:RyR and IP3R Homology associated
Ryanodine and Inositol 1..-trisphosphate (IP3) receptors are intracellular Ca2+-release channels. They become activated upon binding of their respective ligands.a2+ and IP3.pening an intrgral Ca2+ channel. Ryanodine receptor activation is a key component of muscular contraction.heir activation allowing release of Ca2+ from the sarcoplasmic reticulum. Mutations in the ryanodine receptor lead to malignant hyperthermia susceptibility the and central core disease of muscle.
  IPR000699:Intracellular calcium-release channel
This group of proteins is found in sodium.otassium.nd calcium ion channels proteins. The proteins have 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some Na channels proteins the domain is repeated four times.hereas in others (e.g. K channels) the protein forms a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not included in the Pfam family due to it lacking the first four helices.
  IPR005821:Ion transport
SequencesProtein: ITPR1_HUMAN (2758 aa)
mRNA: NM_002222 U23850
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:keywords,domains)
Any process that activates or increases the rate, frequency or extent of synaptic growth at neuromuscular junction.
sdb:0047 positive regulation of synaptic growth at neuromuscular junction  (Evidence:keywords,domains)
those channels, like InsP3-gated calcium channels which activated by InsP3 and release calcium into plasma.
sdb:0117 ionotropic receptor on the ER  (Evidence:keywords,domains)
protein kinase-catalyzed phosphorylation of specific ion channel subunits lead to cell surface expression of ion channel subunit
sdb:0201 cell surface expression of ion channel subunit  (Evidence:keywords,domains)
activation of calmodulin-dependent protein kinases
sdb:0204 activation of calmodulin-dependent protein kinase  (Evidence:keywords,domains)
calcium-regulated transcription factor
sdb:0215 calcium-regulated transcription factor  (Evidence:keywords,domains)
calcium dependent short-term forms of presynaptic plasticity
sdb:0234 calcium dependent short-term forms of presynaptic plasticity  (Evidence:keywords,domains)
intracellular calcium store release to change the concentration of cytosolic calcium.
sdb:0321 intracellular calcium store release  (Evidence:keywords,domains)
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords,domains)
KO assignmentK04958
  Level 3 annotation:
    inositol 1,4,5-triphosphate receptor, type 1
  Level 2 annotation:
    Calcium signaling pathway
    Phosphatidylinositol signaling system
    Ion channels
    Gap junction
    Long-term potentiation
    Long-term depression
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 52 residues, 4510135-4510289Exon2: 27 residues, 4511114-4511190Exon3: 38 residues, 4533159-4533267Exon4: 25 residues, 4537707-4537778Exon5: 40 residues, 4644446-4644562Exon6: 31 residues, 4656067-4656154Exon7: 55 residues, 4658776-4658935Exon8: 35 residues, 4660819-4660918Exon9: 30 residues, 4662070-4662154Exon10: 51 residues, 4662265-4662412Exon11: 34 residues, 4668806-4668902Exon12: 53 residues, 4674807-4674962Exon13: 35 residues, 4677671-4677771Exon14: 55 residues, 4678765-4678926Exon15: 49 residues, 4679748-4679890Exon16: 55 residues, 4681821-4681980Exon17: 59 residues, 4684060-4684233Exon18: 42 residues, 4686337-4686457Exon19: 68 residues, 4687412-4687610Exon20: 86 residues, 4689819-4690071Exon21: 49 residues, 4690885-4691027Exon22: 53 residues, 4691751-4691905Exon23: 64 residues, 4693297-4693485Exon24: 48 residues, 4697236-4697375Exon25: 20 residues, 4698047-4698102Exon26: 57 residues, 4700069-4700235Exon27: 59 residues, 4700311-4700482Exon28: 24 residues, 4700964-4701030Exon29: 48 residues, 4701752-4701890Exon30: 44 residues, 4705178-4705304Exon31: 69 residues, 4707827-4708028Exon32: 86 residues, 4710173-4710425Exon33: 44 residues, 4713830-4713956Exon34: 45 residues, 4716496-4716625Exon35: 42 residues, 4719513-4719634Exon36: 63 residues, 4722850-4723035Exon37: 51 residues, 4727008-4727157Exon38: 39 residues, 4728440-4728552Exon39: 46 residues, 4749771-4749904Exon40: 65 residues, 4751847-4752038Exon41: 62 residues, 4783213-4783394Exon42: 86 residues, 4785194-4785448Exon43: 69 residues, 4791925-4792126Exon44: 39 residues, 4793947-4794058Exon45: 34 residues, 4796233-4796329Exon46: 43 residues, 4799302-4799425Exon47: 37 residues, 4800499-4800604Exon48: 66 residues, 4804630-4804823Exon49: 43 residues, 4811748-4811871Exon50: 60 residues, 4817108-4817284Exon51: 57 residues, 4822786-4822951Exon52: 67 residues, 4827948-4828144Exon53: 33 residues, 4829825-4829918Exon54: 48 residues, 4831106-4831246Exon55: 57 residues, 4831736-4831902Exon56: 55 residues, 4834765-4834926Exon57: 56 residues, 4853457-4853619Exon58: 421 residues, 4862822-4864079Exon59: 2 residues, -Jump to ITPR1_HUMANExon1: 31 residues, 4533175-4533267Exon2: 25 residues, 4537707-4537778Exon3: 40 residues, 4644446-4644562Exon4: 31 residues, 4656067-4656154Exon5: 55 residues, 4658776-4658935Exon6: 35 residues, 4660819-4660918Exon7: 30 residues, 4662070-4662154Exon8: 51 residues, 4662265-4662412Exon9: 34 residues, 4668806-4668902Exon10: 53 residues, 4674807-4674962Exon11: 35 residues, 4677671-4677771Exon12: 55 residues, 4678765-4678926Exon13: 49 residues, 4679748-4679890Exon14: 55 residues, 4681821-4681980Exon15: 59 residues, 4684060-4684233Exon16: 42 residues, 4686337-4686457Exon17: 68 residues, 4687412-4687610Exon18: 86 residues, 4689819-4690071Exon19: 49 residues, 4690885-4691027Exon20: 62 residues, 4691751-4691932Exon21: 64 residues, 4693297-4693485Exon22: 48 residues, 4697236-4697375Exon23: 20 residues, 4698047-4698102Exon24: 57 residues, 4700069-4700235Exon25: 59 residues, 4700311-4700482Exon26: 24 residues, 4700964-4701030Exon27: 48 residues, 4701752-4701890Exon28: 44 residues, 4705178-4705304Exon29: 69 residues, 4707827-4708028Exon30: 86 residues, 4710173-4710425Exon31: 44 residues, 4713830-4713956Exon32: 45 residues, 4716496-4716625Exon33: 42 residues, 4719513-4719634Exon34: 63 residues, 4722850-4723035Exon35: 51 residues, 4727008-4727157Exon36: 39 residues, 4728440-4728552Exon37: 13 residues, 4734050-4734083Exon38: 14 residues, 4742229-4742265Exon39: 18 residues, 4743809-4743857Exon40: 46 residues, 4749771-4749904Exon41: 65 residues, 4751847-4752038Exon42: 62 residues, 4783213-4783394Exon43: 86 residues, 4785194-4785448Exon44: 69 residues, 4791925-4792126Exon45: 39 residues, 4793947-4794058Exon46: 34 residues, 4796233-4796329Exon47: 43 residues, 4799302-4799425Exon48: 37 residues, 4800499-4800604Exon49: 66 residues, 4804630-4804823Exon50: 43 residues, 4811748-4811871Exon51: 60 residues, 4817108-4817284Exon52: 57 residues, 4822786-4822951Exon53: 67 residues, 4827948-4828144Exon54: 33 residues, 4829825-4829918Exon55: 48 residues, 4831106-4831246Exon56: 57 residues, 4831736-4831902Exon57: 55 residues, 4834765-4834926Exon58: 56 residues, 4853457-4853619Exon59: 205 residues, 4862822-4863432Exon60: 2 residues, -Jump to ITPR1_HUMAN  
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Loci Cluster (Details)Loci: 3330 4510135-4864079 ~-354K 25110(ITPR1)(+)Loci: 4585 4377829-4483954 ~-106K 25109(SUMF1)(-)Link out to UCSC