Entity Details

Primary name ITPR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14643
EntryNameITPR1_HUMAN
FullNameInositol 1,4,5-trisphosphate receptor type 1
TaxID9606
Evidenceevidence at protein level
Length2758
SequenceStatuscomplete
DateCreated2001-11-02
DateModified2021-06-02

Ontological Relatives

GenesITPR1

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0005509 calcium ion binding
GO:0005637 nuclear inner membrane
GO:0005730 nucleolus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005955 calcineurin complex
GO:0006816 calcium ion transport
GO:0007165 signal transduction
GO:0009791 post-embryonic development
GO:0010506 regulation of autophagy
GO:0014069 postsynaptic density
GO:0015085 calcium ion transmembrane transporter activity
GO:0015278 calcium-release channel activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0019855 calcium channel inhibitor activity
GO:0030168 platelet activation
GO:0030658 transport vesicle membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0030667 secretory granule membrane
GO:0031088 platelet dense granule membrane
GO:0031094 platelet dense tubular network
GO:0031095 platelet dense tubular network membrane
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0035091 phosphatidylinositol binding
GO:0042045 epithelial fluid transport
GO:0048471 perinuclear region of cytoplasm
GO:0050796 regulation of insulin secretion
GO:0050849 negative regulation of calcium-mediated signaling
GO:0050882 voluntary musculoskeletal movement
GO:0051209 release of sequestered calcium ion into cytosol
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0070679 inositol 1,4,5 trisphosphate binding
GO:0098685 Schaffer collateral - CA1 synapse
GO:0098695 inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels
GO:1903779 regulation of cardiac conduction

Subcellular Location

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Subcellular Location
Cytoplasm
Cytoplasmic vesicle
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR000493 Inositol 1,4,5-trisphosphate receptorFamilyFamily
IPR000699 RIH domainDomainDomain
IPR005821 Ion transport domainDomainDomain
IPR013662 RyR/IP3R Homology associated domainDomainDomain
IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptorDomainDomain
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR016093 MIR motifDomainDomain
IPR035910 RyR/IP3 receptor binding core, RIH domain superfamilyFamilyHomologous superfamily
IPR036300 Mir domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
206700 OMIMGillespie syndrome (GLSP)A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation. The disease is caused by variants affecting the gene represented in this entry.
606658 OMIMSpinocerebellar ataxia 15 (SCA15)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. The disease is caused by variants affecting the gene represented in this entry.
117360 OMIMSpinocerebellar ataxia 29 (SCA29)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00201 CaffeineDrugbanksmall molecule
DB03401 1D-myo-inositol 1,4,5-trisphosphateDrugbanksmall molecule
DB09462 GlycerinDrugbanksmall molecule
DB11590 ThimerosalDrugbanksmall molecule

Interactions

52 interactions

InteractorPartnerSourcesPublicationsLink
ITPR1_HUMANSTA13_HUMANBioGRID, HPRD, IntAct14697242 details
ITPR1_HUMANAKT1_HUMANBioGRID, DIP, IntAct18250332 24947355 details
ITPR1_HUMANCAH8_HUMANBioGRID, HPRD, IntAct12611586 26186194 28514442 details
ITPR1_HUMANKGP1_HUMANBioGRID, DIP, HPRD10724174 18757735 8132598 details
ITPR1_HUMANBCL2_HUMANBioGRID, DIP, HPRD15613488 19706527 details
ITPR1_HUMANB2L10_HUMANUniProt27995898 details
ITPR1_HUMANSAHH2_HUMANBioGRID, HPRD, UniProt12525476 27995898 details
ITPR1_HUMANERBB2_HUMANBioGRID, IntAct31980649 details
ITPR1_HUMANCABP1_HUMANBioGRID, HPRD12032348 14570872 14685260 details
ITPR1_HUMANTRPC4_HUMANBioGRID, HPRD11163362 14505576 details
ITPR1_HUMANRHOA_HUMANBioGRID, HPRD12766172 details
ITPR1_HUMANE41L1_HUMANBioGRID, HPRD12444087 12676536 details
ITPR1_HUMANFKB1A_HUMANBioGRID, HPRD16278292 9346894 details
ITPR1_HUMANKPCD_HUMANBioGRID20395553 details
ITPR1_HUMANBRCA1_HUMANBioGRID25645916 details
ITPR1_HUMANBECN1_HUMANBioGRID22082873 details
ITPR1_HUMANIPRI_HUMANHPRD16990268 details
ITPR1_HUMANRHG01_HUMANHPRD14697242 details
ITPR1_HUMANERP44_HUMANHPRD, IntAct15652484 details
ITPR1_HUMANGRP75_HUMANIntAct24947355 details
ITPR1_HUMANPPIF_HUMANIntAct24947355 details
ITPR1_HUMANCRTC2_HUMANDIP22495310 details
ITPR1_HUMANDISC1_HUMANIntAct31413325 details
ITPR1_HUMANLAT_HUMANMINT18056410 details
ITPR1_HUMANTRPC1_HUMANBioGRID14505576 details
ITPR1_HUMANTRPC3_HUMANBioGRID, HPRD11524429 12606542 14505576 15104175 15623527 9853757 details
ITPR1_HUMANTRPC5_HUMANBioGRID14505576 details
ITPR1_HUMANTRPC6_HUMANBioGRID14505576 details
ITPR1_HUMANSDC2_HUMANBioGRID12676536 details
ITPR1_HUMANIRAG1_HUMANBioGRID, HPRD10724174 details
ITPR1_HUMANBANK1_HUMANBioGRID, HPRD11782428 details
ITPR1_HUMANITPR3_HUMANBioGRID, HPRD7559486 details
ITPR1_HUMANERLN1_HUMANBioGRID19240031 details
ITPR1_HUMANERLN2_HUMANBioGRID17502376 19240031 25882839 details
ITPR1_HUMANTERA_HUMANBioGRID19240031 details
ITPR1_HUMANPSMD2_HUMANBioGRID17502376 details
ITPR1_HUMANAMFR_HUMANBioGRID17502376 details
ITPR1_HUMANUFD1_HUMANBioGRID17502376 details
ITPR1_HUMANCALM1_HUMANBioGRID17696464 details
ITPR1_HUMANCALM2_HUMANBioGRID17696464 details
ITPR1_HUMANCALM3_HUMANBioGRID17696464 details
ITPR1_HUMANRN170_HUMANBioGRID25882839 details
ITPR1_HUMANST7_HUMANBioGRID29395067 details
ITPR1_HUMANKAPCA_HUMANBioGRID, HPRD12529267 33957083 8132598 details
ITPR1_HUMANCDK1_HUMANHPRD14635192 16237118 details
ITPR1_HUMANCCNB1_HUMANHPRD16237118 details
ITPR1_HUMANLYN_HUMANHPRD11782428 details
ITPR1_HUMANFYN_HUMANHPRD14761954 details
ITPR1_HUMANRYR2_HUMANHPRD12754204 details
ITPR1_HUMANHOME2_HUMANHPRD9808459 details
ITPR1_HUMANHOME3_HUMANHPRD9808459 details
ITPR1_HUMANHOME1_HUMANHPRD9808459 details