UniProtKB - Q14643 (ITPR1_HUMAN)
Inositol 1,4,5-trisphosphate receptor type 1
ITPR1
Functioni
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).
By similarity1 PublicationMiscellaneous
Caution
GO - Molecular functioni
- calcium channel inhibitor activity Source: GO_Central
- calcium ion binding Source: GO_Central
- calcium ion transmembrane transporter activity Source: ProtInc
- calcium-release channel activity Source: UniProtKB
- inositol 1,4,5 trisphosphate binding Source: GO_Central
- inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels Source: Ensembl
- inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: UniProtKB
- phosphatidylinositol binding Source: UniProtKB
- protein domain specific binding Source: Ensembl
GO - Biological processi
- calcium ion transport Source: UniProtKB
- cell morphogenesis Source: Ensembl
- endoplasmic reticulum calcium ion homeostasis Source: Ensembl
- epithelial fluid transport Source: Ensembl
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
- negative regulation of calcium-mediated signaling Source: GO_Central
- post-embryonic development Source: Ensembl
- regulation of autophagy Source: ParkinsonsUK-UCL
- release of sequestered calcium ion into cytosol Source: UniProtKB
- response to hypoxia Source: BHF-UCL
- signal transduction Source: UniProtKB
- voluntary musculoskeletal movement Source: Ensembl
Keywordsi
Molecular function | Calcium channel, Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Apoptosis, Calcium transport, Ion transport, Transport |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q14643 |
Reactomei | R-HSA-112043, PLC beta mediated events R-HSA-114508, Effects of PIP2 hydrolysis R-HSA-139853, Elevation of cytosolic Ca2+ levels R-HSA-1489509, DAG and IP3 signaling R-HSA-2029485, Role of phospholipids in phagocytosis R-HSA-2871809, FCERI mediated Ca+2 mobilization R-HSA-381676, Glucagon-like Peptide-1 (GLP1) regulates insulin secretion R-HSA-4086398, Ca2+ pathway R-HSA-418457, cGMP effects R-HSA-422356, Regulation of insulin secretion R-HSA-5218921, VEGFR2 mediated cell proliferation R-HSA-5578775, Ion homeostasis R-HSA-5607763, CLEC7A (Dectin-1) induces NFAT activation R-HSA-9664323, FCGR3A-mediated IL10 synthesis R-HSA-983695, Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
SignaLinki | Q14643 |
SIGNORi | Q14643 |
Protein family/group databases
TCDBi | 1.A.3.2.6, the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family |
Names & Taxonomyi
Protein namesi | Recommended name: Inositol 1,4,5-trisphosphate receptor type 1Alternative name(s): IP3 receptor isoform 1 Short name: IP3R 1 Short name: InsP3R1 Type 1 inositol 1,4,5-trisphosphate receptor Short name: Type 1 InsP3 receptor |
Gene namesi | Name:ITPR1 Synonyms:INSP3R1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6180, ITPR1 |
MIMi | 147265, gene |
neXtProti | NX_Q14643 |
VEuPathDBi | HostDB:ENSG00000150995 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Other locations
- secretory vesicle membrane By similarity; Multi-pass membrane protein Sequence analysis
- perinuclear region 1 Publication
Note: Endoplasmic reticulum and secretory granules (By similarity).By similarity
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: GO_Central
- sarcoplasmic reticulum Source: GO_Central
Nucleus
- nuclear inner membrane Source: Ensembl
- nucleolus Source: Ensembl
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- calcineurin complex Source: Ensembl
- cytoplasmic vesicle membrane Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
- perinuclear region of cytoplasm Source: UniProtKB-SubCell
- platelet dense granule membrane Source: BHF-UCL
- platelet dense tubular network Source: BHF-UCL
- platelet dense tubular network membrane Source: Reactome
- postsynaptic density Source: Ensembl
- Schaffer collateral - CA1 synapse Source: Ensembl
- secretory granule membrane Source: GO_Central
- transport vesicle membrane Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 2282 | CytoplasmicSequence analysisAdd BLAST | 2282 | |
Transmembranei | 2283 – 2303 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 2304 – 2314 | LumenalSequence analysisAdd BLAST | 11 | |
Transmembranei | 2315 – 2335 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 2336 – 2361 | CytoplasmicSequence analysisAdd BLAST | 26 | |
Transmembranei | 2362 – 2382 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 2383 – 2405 | LumenalSequence analysisAdd BLAST | 23 | |
Transmembranei | 2406 – 2426 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 2427 – 2448 | CytoplasmicSequence analysisAdd BLAST | 22 | |
Transmembranei | 2449 – 2469 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 2470 – 2577 | LumenalSequence analysisAdd BLAST | 108 | |
Transmembranei | 2578 – 2598 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 2599 – 2758 | CytoplasmicSequence analysisAdd BLAST | 160 |
Keywords - Cellular componenti
Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 15 (SCA15)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081167 | 1083 | P → L in SCA15. 1 PublicationCorresponds to variant dbSNP:rs121912425EnsemblClinVar. | 1 |
Spinocerebellar ataxia 29 (SCA29)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069567 | 602 | N → D in SCA29. 1 PublicationCorresponds to variant dbSNP:rs397514536EnsemblClinVar. | 1 | |
Natural variantiVAR_069569 | 1562 | V → M in SCA29. 2 PublicationsCorresponds to variant dbSNP:rs397514535EnsemblClinVar. | 1 |
Gillespie syndrome (GLSP)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077462 | 2109 | E → Q in GLSP. 1 Publication | 1 | |
Natural variantiVAR_077463 | 2554 | G → R in GLSP. 1 PublicationCorresponds to variant dbSNP:rs752281590EnsemblClinVar. | 1 | |
Natural variantiVAR_077464 | 2601 | F → L in GLSP. 1 PublicationCorresponds to variant dbSNP:rs878853176EnsemblClinVar. | 1 | |
Natural variantiVAR_077465 | 2611 | Missing in GLSP; alters calcium release of isoform 3. 2 PublicationsCorresponds to variant dbSNP:rs878853175Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 241 | R → Q: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 249 | K → Q: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 265 | R → Q: No effect on interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 267 | T → A: No effect on interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 269 | R → Q: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 504 | R → Q: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 506 | R → Q: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 508 | K → A: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 511 | R → A: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 567 | Y → A: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 568 | R → Q: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 569 | K → A: Abolishes interaction with AHCYL1. 1 Publication | 1 | |
Mutagenesisi | 1059 | P → L: Creates a dileucine motif and recruits clathrin. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardation, Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 3708 |
GeneReviewsi | ITPR1 |
MalaCardsi | ITPR1 |
MIMi | 117360, phenotype 206700, phenotype 606658, phenotype |
OpenTargetsi | ENSG00000150995 |
Orphaneti | 1065, Aniridia-cerebellar ataxia-intellectual disability syndrome 98769, Spinocerebellar ataxia type 15/16 208513, Spinocerebellar ataxia type 29 |
PharmGKBi | PA29978 |
Miscellaneous databases
Pharosi | Q14643, Tchem |
Chemistry databases
ChEMBLi | CHEMBL4046 |
DrugBanki | DB03401, 1D-myo-inositol 1,4,5-trisphosphate DB00201, Caffeine DB09462, Glycerin DB11590, Thimerosal |
Genetic variation databases
BioMutai | ITPR1 |
DMDMi | 519668682 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000153920 | 1 – 2758 | Inositol 1,4,5-trisphosphate receptor type 1Add BLAST | 2758 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 56 | S-palmitoyl cysteineBy similarity | 1 | |
Modified residuei | 482 | PhosphotyrosineSequence analysis | 1 | |
Lipidationi | 850 | S-palmitoyl cysteineBy similarity | 1 | |
Cross-linki | 917 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 972 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 1581 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Modified residuei | 1598 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1764 | PhosphoserineCombined sources | 1 | |
Cross-linki | 1780 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 1893 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 1894 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 1895 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 1910 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 1933 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 2127 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Cross-linki | 2266 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity | ||
Glycosylationi | 2512 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 2664 | PhosphotyrosineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q14643 |
jPOSTi | Q14643 |
MassIVEi | Q14643 |
MaxQBi | Q14643 |
PaxDbi | Q14643 |
PeptideAtlasi | Q14643 |
PRIDEi | Q14643 |
ProteomicsDBi | 17461 60081 [Q14643-1] 60082 [Q14643-2] 60083 [Q14643-3] 60084 [Q14643-4] 60085 [Q14643-5] 60086 [Q14643-6] 60087 [Q14643-7] 60088 [Q14643-8] |
PTM databases
GlyConnecti | 1399, 1 N-Linked glycan (1 site) |
GlyGeni | Q14643, 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | Q14643 |
PhosphoSitePlusi | Q14643 |
SwissPalmi | Q14643 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000150995, Expressed in cauda epididymis and 239 other tissues |
ExpressionAtlasi | Q14643, baseline and differential |
Genevisiblei | Q14643, HS |
Organism-specific databases
HPAi | ENSG00000150995, Low tissue specificity |
Interactioni
Subunit structurei
Homotetramer (By similarity).
Interacts with TRPC4 (By similarity). The PPXXF motif binds HOM1, HOM2 and HOM3.
Interacts with RYR1, RYR2, ITPR1, SHANK1 and SHANK3.
Interacts with ERP44 in a pH-, redox state- and calcium-dependent manner which results in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1.
Interacts with IRAG1 (PubMed:16990611).
Interacts with CABP1 (via N-terminus) (PubMed:12032348, PubMed:14685260).
Interacts with TESPA1.
Interacts (when not phosphorylated) with AHCYL1 (when phosphorylated); the interaction suppresses inositol 1,4,5-trisphosphate binding to ITPR1 and is increased in the presence of BCL2L10 (PubMed:16793548, PubMed:27995898).
Interacts with AHCYL2 (with lower affinity than with AHCYL1) (PubMed:19220705).
Interacts with BCL2L10; the interaction is increased in the presence of AHCLY1 (PubMed:27995898).
Interacts with BOK (via BH4 domain); protects ITPR1 from proteolysis by CASP3 during apoptosis (PubMed:23884412).
By similarity9 PublicationsBinary interactionsi
GO - Molecular functioni
- protein domain specific binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 109913, 108 interactors |
CORUMi | Q14643 |
DIPi | DIP-29714N |
ELMi | Q14643 |
IntActi | Q14643, 41 interactors |
MINTi | Q14643 |
STRINGi | 9606.ENSP00000306253 |
Chemistry databases
BindingDBi | Q14643 |
Miscellaneous databases
RNActi | Q14643, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 112 – 166 | MIR 1PROSITE-ProRule annotationAdd BLAST | 55 | |
Domaini | 173 – 223 | MIR 2PROSITE-ProRule annotationAdd BLAST | 51 | |
Domaini | 231 – 287 | MIR 3PROSITE-ProRule annotationAdd BLAST | 57 | |
Domaini | 294 – 373 | MIR 4PROSITE-ProRule annotationAdd BLAST | 80 | |
Domaini | 379 – 435 | MIR 5PROSITE-ProRule annotationAdd BLAST | 57 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 265 – 269 | Inositol 1,4,5-trisphosphate bindingBy similarity | 5 | |
Regioni | 508 – 511 | Inositol 1,4,5-trisphosphate bindingBy similarity | 4 | |
Regioni | 567 – 569 | Inositol 1,4,5-trisphosphate bindingBy similarity | 3 | |
Regioni | 1015 – 1036 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 1146 – 1178 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 1708 – 1740 | DisorderedSequence analysisAdd BLAST | 33 | |
Regioni | 1760 – 1796 | DisorderedSequence analysisAdd BLAST | 37 | |
Regioni | 1890 – 1915 | DisorderedSequence analysisAdd BLAST | 26 | |
Regioni | 1939 – 1960 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 2472 – 2537 | Interaction with ERP44By similarityAdd BLAST | 66 | |
Regioni | 2729 – 2758 | DisorderedSequence analysisAdd BLAST | 30 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1016 – 1033 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 1155 – 1173 | Basic and acidic residuesSequence analysisAdd BLAST | 19 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3533, Eukaryota |
GeneTreei | ENSGT00940000155071 |
HOGENOMi | CLU_000206_1_0_1 |
InParanoidi | Q14643 |
OMAi | GLIDKTW |
OrthoDBi | 94996at2759 |
PhylomeDBi | Q14643 |
TreeFami | TF312815 |
Family and domain databases
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR014821, Ins145_P3_rcpt IPR000493, InsP3_rcpt IPR005821, Ion_trans_dom IPR036300, MIR_dom_sf IPR016093, MIR_motif IPR013662, RIH_assoc-dom IPR000699, RIH_dom IPR035910, RyR/IP3R_RIH_dom_sf |
Pfami | View protein in Pfam PF08709, Ins145_P3_rec, 1 hit PF00520, Ion_trans, 1 hit PF02815, MIR, 1 hit PF08454, RIH_assoc, 1 hit PF01365, RYDR_ITPR, 2 hits |
PRINTSi | PR00779, INSP3RECEPTR |
SMARTi | View protein in SMART SM00472, MIR, 4 hits |
SUPFAMi | SSF100909, SSF100909, 2 hits SSF48371, SSF48371, 1 hit SSF82109, SSF82109, 2 hits |
PROSITEi | View protein in PROSITE PS50919, MIR, 5 hits |
s (8+)i Sequence
Sequence statusi: Complete.
This entry describes 8 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 8 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP
60 70 80 90 100
KKFRDCLFKL CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK
110 120 130 140 150
KQNETENRKL LGTVIQYGNV IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT
160 170 180 190 200
LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD KVVLNPVNAG QPLHASSHQL
210 220 230 240 250
VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV RLFHAEQEKF
260 270 280 290 300
LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN
310 320 330 340 350
SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK
360 370 380 390 400
MVYSLVSVPE GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH
410 420 430 440 450
STNIPIDKEE EKPVMLKIGT SPVKEDKEAF AIVPVSPAEV RDLDFANDAS
460 470 480 490 500
KVLGSIAGKL EKGTITQNER RSVTKLLEDL VYFVTGGTNS GQDVLEVVFS
510 520 530 540 550
KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE LGDQRHAPFR
560 570 580 590 600
HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH
610 620 630 640 650
NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE
660 670 680 690 700
LICKAVLNPT NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF
710 720 730 740 750
WRDSNKEIRS KSVRELAQDA KEGQKEDRDV LSYYRYQLNL FARMCLDRQY
760 770 780 790 800
LAINEISGQL DVDLILRCMS DENLPYDLRA SFCRLMLHMH VDRDPQEQVT
810 820 830 840 850
PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF VEEYLRDVVC
860 870 880 890 900
QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH
910 920 930 940 950
VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG
960 970 980 990 1000
FLPMTPMAAA PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI
1010 1020 1030 1040 1050
SCLLCIFKRE FDESNSQTSE TSSGNSSQEG PSNVPGALDF EHIEEQAEGI
1060 1070 1080 1090 1100
FGGSEENTPL DLDDHGGRTF LRVLLHLTMH DYPPLVSGAL QLLFRHFSQR
1110 1120 1130 1140 1150
QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE LWVYKGQGPD
1160 1170 1180 1190 1200
ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE
1210 1220 1230 1240 1250
SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF
1260 1270 1280 1290 1300
LQNFCAGNQQ NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER
1310 1320 1330 1340 1350
VVQHFVHCIE THGRNVQYIK FLQTIVKAEG KFIKKCQDMV MAELVNSGED
1360 1370 1380 1390 1400
VLVFYNDRAS FQTLIQMMRS ERDRMDENSP LMYHIHLVEL LAVCTEGKNV
1410 1420 1430 1440 1450
YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY VDTEVEMKEI
1460 1470 1480 1490 1500
YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF
1510 1520 1530 1540 1550
SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS
1560 1570 1580 1590 1600
DVAKSRAIAI PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL
1610 1620 1630 1640 1650
AASRDYRNII ERLQDIVSAL EDRLRPLVQA ELSVLVDVLH RPELLFPENT
1660 1670 1680 1690 1700
DARRKCESGG FICKLIKHTK QLLEENEEKL CIKVLQTLRE MMTKDRGYGE
1710 1720 1730 1740 1750
KLISIDELDN AELPPAPDSE NATEELEPSP PLRQLEDHKR GEALRQVLVN
1760 1770 1780 1790 1800
RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL
1810 1820 1830 1840 1850
AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS
1860 1870 1880 1890 1900
FFCRLTEDKK SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD
1910 1920 1930 1940 1950
RDAPSRKKAK EPTTQITEEV RDQLLEASAA TRKAFTTFRR EADPDDHYQP
1960 1970 1980 1990 2000
GEGTQATADK AKDDLEMSAV ITIMQPILRF LQLLCENHNR DLQNFLRCQN
2010 2020 2030 2040 2050
NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL INQTLESLTE
2060 2070 2080 2090 2100
YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA
2110 2120 2130 2140 2150
SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG
2160 2170 2180 2190 2200
EDGAASPRNV GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH
2210 2220 2230 2240 2250
TAQIEIVRLD RTMEQIVFPV PSICEFLTKE SKLRIYYTTE RDEQGSKIND
2260 2270 2280 2290 2300
FFLRSEDLFN EMNWQKKLRA QPVLYWCARN MSFWSSISFN LAVLMNLLVA
2310 2320 2330 2340 2350
FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG IRALIASTIL
2360 2370 2380 2390 2400
RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF
2410 2420 2430 2440 2450
LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII
2460 2470 2480 2490 2500
LTAVLALILV YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL
2510 2520 2530 2540 2550
FSDVCRVESG ENCSSPAPRE ELVPAEETEQ DKEHTCETLL MCIVTVLSHG
2560 2570 2580 2590 2600
LRSGGGVGDV LRKPSKEEPL FAARVIYDLL FFFMVIIIVL NLIFGVIIDT
2610 2620 2630 2640 2650
FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI KEEHNMWHYL
2660 2670 2680 2690 2700
CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ
2710 2720 2730 2740 2750
NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM
NVNPQQPA
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ITU8 | A0A3B3ITU8_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 2,744 | Annotation score: | ||
A0A3F2YNW8 | A0A3F2YNW8_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 2,750 | Annotation score: | ||
A0A3B3IU04 | A0A3B3IU04_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 2,749 | Annotation score: | ||
A0A3B3ITQ1 | A0A3B3ITQ1_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 2,012 | Annotation score: | ||
B7ZMI3 | B7ZMI3_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 721 | Annotation score: | ||
A0A3B3IRT5 | A0A3B3IRT5_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 296 | Annotation score: | ||
A0A3B3ITM6 | A0A3B3ITM6_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 714 | Annotation score: | ||
A0A8C8KBY2 | A0A8C8KBY2_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 1,668 | Annotation score: | ||
A0A3B3IU05 | A0A3B3IU05_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 1,818 | Annotation score: | ||
A0A3B3IU13 | A0A3B3IU13_HUMAN | Inositol 1,4,5-trisphosphate recept... | ITPR1 | 1,739 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1557 – 1581 | AIAIP…SIVQK → HCHSRGPGQPSQQPLSQVPQ HCAE in AAD14386 (PubMed:8648241).CuratedAdd BLAST | 25 | |
Sequence conflicti | 2302 | F → L in AAB04947 (PubMed:7852357).Curated | 1 | |
Sequence conflicti | 2305 | F → L in AAB04947 (PubMed:7852357).Curated | 1 | |
Sequence conflicti | 2448 | S → A in U23850 (PubMed:7500840).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069567 | 602 | N → D in SCA29. 1 PublicationCorresponds to variant dbSNP:rs397514536EnsemblClinVar. | 1 | |
Natural variantiVAR_037005 | 769 | M → V. Corresponds to variant dbSNP:rs35789999EnsemblClinVar. | 1 | |
Natural variantiVAR_081167 | 1083 | P → L in SCA15. 1 PublicationCorresponds to variant dbSNP:rs121912425EnsemblClinVar. | 1 | |
Natural variantiVAR_037006 | 1430 | I → V. Corresponds to variant dbSNP:rs3749383EnsemblClinVar. | 1 | |
Natural variantiVAR_069569 | 1562 | V → M in SCA29. 2 PublicationsCorresponds to variant dbSNP:rs397514535EnsemblClinVar. | 1 | |
Natural variantiVAR_077462 | 2109 | E → Q in GLSP. 1 Publication | 1 | |
Natural variantiVAR_077463 | 2554 | G → R in GLSP. 1 PublicationCorresponds to variant dbSNP:rs752281590EnsemblClinVar. | 1 | |
Natural variantiVAR_077464 | 2601 | F → L in GLSP. 1 PublicationCorresponds to variant dbSNP:rs878853176EnsemblClinVar. | 1 | |
Natural variantiVAR_077465 | 2611 | Missing in GLSP; alters calcium release of isoform 3. 2 PublicationsCorresponds to variant dbSNP:rs878853175Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002687 | 322 – 336 | Missing in isoform 2, isoform 4, isoform 5, isoform 7 and isoform 8. 3 PublicationsAdd BLAST | 15 | |
Alternative sequenceiVSP_002688 | 919 – 927 | Missing in isoform 3, isoform 4, isoform 5 and isoform 8. 3 Publications | 9 | |
Alternative sequenceiVSP_002689 | 1702 – 1724 | Missing in isoform 3 and isoform 4. 3 PublicationsAdd BLAST | 23 | |
Alternative sequenceiVSP_002690 | 1725 – 1740 | Missing in isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8. 3 PublicationsAdd BLAST | 16 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D26070 mRNA Translation: BAA05065.1 L38019 mRNA Translation: AAB04947.2 U23850 mRNA No translation available. AC018816 Genomic DNA No translation available. AC024168 Genomic DNA No translation available. AC069248 Genomic DNA No translation available. AC090944 Genomic DNA No translation available. S82269 mRNA Translation: AAD14386.1 |
CCDSi | CCDS46740.2 [Q14643-3] CCDS54550.1 [Q14643-4] CCDS54551.1 [Q14643-2] |
PIRi | A55713 S54974 |
RefSeqi | NP_001093422.2, NM_001099952.2 [Q14643-3] NP_001161744.1, NM_001168272.1 [Q14643-2] NP_002213.5, NM_002222.5 [Q14643-4] XP_011531985.1, XM_011533683.2 |
Genome annotation databases
Ensembli | ENST00000357086.10; ENSP00000349597.4; ENSG00000150995.21 [Q14643-3] ENST00000443694.5; ENSP00000401671.2; ENSG00000150995.21 [Q14643-2] ENST00000456211.8; ENSP00000397885.2; ENSG00000150995.21 [Q14643-4] ENST00000648309.1; ENSP00000497026.1; ENSG00000150995.21 [Q14643-5] ENST00000649015.2; ENSP00000497605.1; ENSG00000150995.21 |
GeneIDi | 3708 |
KEGGi | hsa:3708 |
MANE-Selecti | ENST00000649015.2; ENSP00000497605.1; NM_001378452.1; NP_001365381.1 |
UCSCi | uc003bqc.3, human [Q14643-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D26070 mRNA Translation: BAA05065.1 L38019 mRNA Translation: AAB04947.2 U23850 mRNA No translation available. AC018816 Genomic DNA No translation available. AC024168 Genomic DNA No translation available. AC069248 Genomic DNA No translation available. AC090944 Genomic DNA No translation available. S82269 mRNA Translation: AAD14386.1 |
CCDSi | CCDS46740.2 [Q14643-3] CCDS54550.1 [Q14643-4] CCDS54551.1 [Q14643-2] |
PIRi | A55713 S54974 |
RefSeqi | NP_001093422.2, NM_001099952.2 [Q14643-3] NP_001161744.1, NM_001168272.1 [Q14643-2] NP_002213.5, NM_002222.5 [Q14643-4] XP_011531985.1, XM_011533683.2 |
3D structure databases
SMRi | Q14643 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109913, 108 interactors |
CORUMi | Q14643 |
DIPi | DIP-29714N |
ELMi | Q14643 |
IntActi | Q14643, 41 interactors |
MINTi | Q14643 |
STRINGi | 9606.ENSP00000306253 |
Chemistry databases
BindingDBi | Q14643 |
ChEMBLi | CHEMBL4046 |
DrugBanki | DB03401, 1D-myo-inositol 1,4,5-trisphosphate DB00201, Caffeine DB09462, Glycerin DB11590, Thimerosal |
Protein family/group databases
TCDBi | 1.A.3.2.6, the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family |
PTM databases
GlyConnecti | 1399, 1 N-Linked glycan (1 site) |
GlyGeni | Q14643, 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | Q14643 |
PhosphoSitePlusi | Q14643 |
SwissPalmi | Q14643 |
Genetic variation databases
BioMutai | ITPR1 |
DMDMi | 519668682 |
Proteomic databases
EPDi | Q14643 |
jPOSTi | Q14643 |
MassIVEi | Q14643 |
MaxQBi | Q14643 |
PaxDbi | Q14643 |
PeptideAtlasi | Q14643 |
PRIDEi | Q14643 |
ProteomicsDBi | 17461 60081 [Q14643-1] 60082 [Q14643-2] 60083 [Q14643-3] 60084 [Q14643-4] 60085 [Q14643-5] 60086 [Q14643-6] 60087 [Q14643-7] 60088 [Q14643-8] |
Protocols and materials databases
ABCDi | Q14643, 1 sequenced antibody |
Antibodypediai | 5503, 413 antibodies from 41 providers |
DNASUi | 3708 |
Genome annotation databases
Ensembli | ENST00000357086.10; ENSP00000349597.4; ENSG00000150995.21 [Q14643-3] ENST00000443694.5; ENSP00000401671.2; ENSG00000150995.21 [Q14643-2] ENST00000456211.8; ENSP00000397885.2; ENSG00000150995.21 [Q14643-4] ENST00000648309.1; ENSP00000497026.1; ENSG00000150995.21 [Q14643-5] ENST00000649015.2; ENSP00000497605.1; ENSG00000150995.21 |
GeneIDi | 3708 |
KEGGi | hsa:3708 |
MANE-Selecti | ENST00000649015.2; ENSP00000497605.1; NM_001378452.1; NP_001365381.1 |
UCSCi | uc003bqc.3, human [Q14643-1] |
Organism-specific databases
CTDi | 3708 |
DisGeNETi | 3708 |
GeneCardsi | ITPR1 |
GeneReviewsi | ITPR1 |
HGNCi | HGNC:6180, ITPR1 |
HPAi | ENSG00000150995, Low tissue specificity |
MalaCardsi | ITPR1 |
MIMi | 117360, phenotype 147265, gene 206700, phenotype 606658, phenotype |
neXtProti | NX_Q14643 |
OpenTargetsi | ENSG00000150995 |
Orphaneti | 1065, Aniridia-cerebellar ataxia-intellectual disability syndrome 98769, Spinocerebellar ataxia type 15/16 208513, Spinocerebellar ataxia type 29 |
PharmGKBi | PA29978 |
VEuPathDBi | HostDB:ENSG00000150995 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3533, Eukaryota |
GeneTreei | ENSGT00940000155071 |
HOGENOMi | CLU_000206_1_0_1 |
InParanoidi | Q14643 |
OMAi | GLIDKTW |
OrthoDBi | 94996at2759 |
PhylomeDBi | Q14643 |
TreeFami | TF312815 |
Enzyme and pathway databases
PathwayCommonsi | Q14643 |
Reactomei | R-HSA-112043, PLC beta mediated events R-HSA-114508, Effects of PIP2 hydrolysis R-HSA-139853, Elevation of cytosolic Ca2+ levels R-HSA-1489509, DAG and IP3 signaling R-HSA-2029485, Role of phospholipids in phagocytosis R-HSA-2871809, FCERI mediated Ca+2 mobilization R-HSA-381676, Glucagon-like Peptide-1 (GLP1) regulates insulin secretion R-HSA-4086398, Ca2+ pathway R-HSA-418457, cGMP effects R-HSA-422356, Regulation of insulin secretion R-HSA-5218921, VEGFR2 mediated cell proliferation R-HSA-5578775, Ion homeostasis R-HSA-5607763, CLEC7A (Dectin-1) induces NFAT activation R-HSA-9664323, FCGR3A-mediated IL10 synthesis R-HSA-983695, Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
SignaLinki | Q14643 |
SIGNORi | Q14643 |
Miscellaneous databases
BioGRID-ORCSi | 3708, 6 hits in 1073 CRISPR screens |
ChiTaRSi | ITPR1, human |
GeneWikii | ITPR1 |
GenomeRNAii | 3708 |
Pharosi | Q14643, Tchem |
PROi | PR:Q14643 |
RNActi | Q14643, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000150995, Expressed in cauda epididymis and 239 other tissues |
ExpressionAtlasi | Q14643, baseline and differential |
Genevisiblei | Q14643, HS |
Family and domain databases
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR014821, Ins145_P3_rcpt IPR000493, InsP3_rcpt IPR005821, Ion_trans_dom IPR036300, MIR_dom_sf IPR016093, MIR_motif IPR013662, RIH_assoc-dom IPR000699, RIH_dom IPR035910, RyR/IP3R_RIH_dom_sf |
Pfami | View protein in Pfam PF08709, Ins145_P3_rec, 1 hit PF00520, Ion_trans, 1 hit PF02815, MIR, 1 hit PF08454, RIH_assoc, 1 hit PF01365, RYDR_ITPR, 2 hits |
PRINTSi | PR00779, INSP3RECEPTR |
SMARTi | View protein in SMART SM00472, MIR, 4 hits |
SUPFAMi | SSF100909, SSF100909, 2 hits SSF48371, SSF48371, 1 hit SSF82109, SSF82109, 2 hits |
PROSITEi | View protein in PROSITE PS50919, MIR, 5 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | ITPR1_HUMAN | |
Accessioni | Q14643Primary (citable) accession number: Q14643 Secondary accession number(s): E7EPX7 Q99897 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 2, 2001 |
Last sequence update: | June 26, 2013 | |
Last modified: | May 25, 2022 | |
This is version 231 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families