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Protein

Inositol 1,4,5-trisphosphate receptor type 1

Gene

ITPR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate. 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 similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Apoptosis, Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000150995-MONOMER.
ReactomeiR-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-983695. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
SignaLinkiQ14643.
SIGNORiQ14643.

Protein family/group databases

TCDBi1.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 1
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:6180. ITPR1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 2282CytoplasmicSequence analysisAdd BLAST2282
Transmembranei2283 – 2303HelicalSequence analysisAdd BLAST21
Topological domaini2304 – 2314LumenalSequence analysisAdd BLAST11
Transmembranei2315 – 2335HelicalSequence analysisAdd BLAST21
Topological domaini2336 – 2361CytoplasmicSequence analysisAdd BLAST26
Transmembranei2362 – 2382HelicalSequence analysisAdd BLAST21
Topological domaini2383 – 2405LumenalSequence analysisAdd BLAST23
Transmembranei2406 – 2426HelicalSequence analysisAdd BLAST21
Topological domaini2427 – 2448CytoplasmicSequence analysisAdd BLAST22
Transmembranei2449 – 2469HelicalSequence analysisAdd BLAST21
Topological domaini2470 – 2577LumenalSequence analysisAdd BLAST108
Transmembranei2578 – 2598HelicalSequence analysisAdd BLAST21
Topological domaini2599 – 2758CytoplasmicSequence analysisAdd BLAST160

GO - Cellular componenti

  • calcineurin complex Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: GO_Central
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • nuclear inner membrane Source: Ensembl
  • nucleolus Source: Ensembl
  • plasma membrane Source: GO_Central
  • 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
  • protein complex Source: Ensembl
  • sarcoplasmic reticulum Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 15 (SCA15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar 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.
See also OMIM:606658
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0695681059P → L in SCA15. 1 Publication1
Spinocerebellar ataxia 29 (SCA29)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:117360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069567602N → D in SCA29. 1 PublicationCorresponds to variant rs397514536dbSNPEnsembl.1
Natural variantiVAR_0695691562V → M in SCA29. 2 PublicationsCorresponds to variant rs397514535dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi241R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi249K → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi265R → Q: No effect on interaction with AHCYL1. 1 Publication1
Mutagenesisi267T → A: No effect on interaction with AHCYL1. 1 Publication1
Mutagenesisi269R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi504R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi506R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi508K → A: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi511R → A: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi567Y → A: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi568R → Q: Abolishes interaction with AHCYL1. 1 Publication1
Mutagenesisi569K → A: Abolishes interaction with AHCYL1. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi3708.
MalaCardsiITPR1.
MIMi117360. phenotype.
606658. phenotype.
OpenTargetsiENSG00000150995.
Orphaneti98769. Spinocerebellar ataxia type 15/16.
208513. Spinocerebellar ataxia type 29.
PharmGKBiPA29978.

Chemistry databases

ChEMBLiCHEMBL4046.
DrugBankiDB00201. Caffeine.
GuidetoPHARMACOLOGYi743.

Polymorphism and mutation databases

BioMutaiITPR1.
DMDMi519668682.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001539201 – 2758Inositol 1,4,5-trisphosphate receptor type 1Add BLAST2758

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei482PhosphotyrosineSequence analysis1
Cross-linki917Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki972Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1581Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei1598PhosphoserineCombined sources1
Modified residuei1764PhosphoserineCombined sources1
Cross-linki1780Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1894Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1895Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1910Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki1933Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki2127Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Cross-linki2266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Glycosylationi2512N-linked (GlcNAc...)1 Publication1
Modified residuei2664PhosphotyrosineSequence analysis1

Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication
Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked (By similarity).By similarity
Phosphorylated by cAMP kinase (PKA). Phosphorylation prevents the ligand-induced opening of the calcium channels. Phosphorylation by PKA increases the interaction with inositol 1,4,5-trisphosphate and decreases the interaction with AHCYL1.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14643.
MaxQBiQ14643.
PaxDbiQ14643.
PeptideAtlasiQ14643.
PRIDEiQ14643.

PTM databases

iPTMnetiQ14643.
PhosphoSitePlusiQ14643.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000150995.
CleanExiHS_ITPR1.
ExpressionAtlasiQ14643. baseline and differential.
GenevisibleiQ14643. HS.

Organism-specific databases

HPAiHPA014765.
HPA016487.

Interactioni

Subunit structurei

Homotetramer. Interacts with TRPC4. 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 MRVI1 and CABP1 (via N-terminus). Interacts with TESPA1. Interacts (when not phosphorylated) with AHCYL1 (when phosphorylated); the interaction suppresses inositol 1,4,5-trisphosphate binding to ITPR1 (PubMed:16793548). Interacts with AHCYL2 (with lower affinity than with AHCYL1) (PubMed:19220705). Interacts with BOK (via BH4 domain); protects ITPR1 from proteolysis by CASP3 during apoptosis (PubMed:23884412).8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
VDAC1P217963EBI-465548,EBI-354158

Protein-protein interaction databases

BioGridi109913. 48 interactors.
DIPiDIP-29714N.
IntActiQ14643. 18 interactors.
MINTiMINT-4991320.
STRINGi9606.ENSP00000306253.

Chemistry databases

BindingDBiQ14643.

Structurei

3D structure databases

ProteinModelPortaliQ14643.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini112 – 166MIR 1PROSITE-ProRule annotationAdd BLAST55
Domaini173 – 223MIR 2PROSITE-ProRule annotationAdd BLAST51
Domaini231 – 287MIR 3PROSITE-ProRule annotationAdd BLAST57
Domaini294 – 373MIR 4PROSITE-ProRule annotationAdd BLAST80
Domaini379 – 435MIR 5PROSITE-ProRule annotationAdd BLAST57

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni265 – 269Inositol 1,4,5-trisphosphate bindingBy similarity5
Regioni508 – 511Inositol 1,4,5-trisphosphate bindingBy similarity4
Regioni567 – 569Inositol 1,4,5-trisphosphate bindingBy similarity3
Regioni2472 – 2537Interaction with ERP44By similarityAdd BLAST66

Domaini

The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.

Sequence similaritiesi

Belongs to the InsP3 receptor family.Curated
Contains 5 MIR domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3533. Eukaryota.
ENOG410XR97. LUCA.
GeneTreeiENSGT00760000119152.
HOGENOMiHOG000007660.
HOVERGENiHBG052158.
InParanoidiQ14643.
KOiK04958.
OMAiDPDDHYQ.
OrthoDBiEOG091G00T2.
PhylomeDBiQ14643.
TreeFamiTF312815.

Family and domain databases

Gene3Di1.25.10.30. 2 hits.
InterProiIPR016024. ARM-type_fold.
IPR014821. Ins145_P3_rcpt.
IPR000493. InsP3_rcpt-bd.
IPR005821. Ion_trans_dom.
IPR016093. MIR_motif.
IPR013662. RIH_assoc-dom.
IPR000699. RIH_dom.
IPR015925. Ryanodine_recept-rel.
[Graphical view]
PANTHERiPTHR13715. PTHR13715. 1 hit.
PfamiPF08709. Ins145_P3_rec. 1 hit.
PF00520. Ion_trans. 1 hit.
PF02815. MIR. 1 hit.
PF08454. RIH_assoc. 1 hit.
PF01365. RYDR_ITPR. 2 hits.
[Graphical view]
PRINTSiPR00779. INSP3RECEPTR.
SMARTiSM00472. MIR. 4 hits.
[Graphical view]
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF48371. SSF48371. 4 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiPS50919. MIR. 5 hits.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

Note: There is a combination of three alternatively spliced domains at site SI, SIII and site SII (A and C). Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q14643-1) [UniParc]FASTAAdd to basket
Also known as: SISIIISIIAC

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:2,758
Mass (Da):313,929
Last modified:June 26, 2013 - v3
Checksum:iD29B072252B0D8E7
GO
Isoform 2 (identifier: Q14643-2) [UniParc]FASTAAdd to basket
Also known as: SI-SIIISIIAC

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.

Show »
Length:2,743
Mass (Da):312,163
Checksum:iD0AA6DEC837C28AB
GO
Isoform 3 (identifier: Q14643-3) [UniParc]FASTAAdd to basket
Also known as: SISIII-SII

The sequence of this isoform differs from the canonical sequence as follows:
     919-927: Missing.
     1702-1725: Missing.
     1726-1740: Missing.

Show »
Length:2,710
Mass (Da):308,539
Checksum:iC24313548F4DCBFC
GO
Isoform 4 (identifier: Q14643-4) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SII

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.
     1702-1725: Missing.
     1726-1740: Missing.

Show »
Length:2,695
Mass (Da):306,773
Checksum:i92B35C092276D178
GO
Isoform 5 (identifier: Q14643-5) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SIIAC

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.

Show »
Length:2,734
Mass (Da):311,135
Checksum:i5D714D3692B19AA3
GO
Isoform 6 (identifier: Q14643-6) [UniParc]FASTAAdd to basket
Also known as: SISIIISIIA

The sequence of this isoform differs from the canonical sequence as follows:
     1726-1740: Missing.

Show »
Length:2,743
Mass (Da):312,132
Checksum:iEAFD59A4EFF360A5
GO
Isoform 7 (identifier: Q14643-7) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SIIA

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     1726-1740: Missing.

Show »
Length:2,728
Mass (Da):310,366
Checksum:i01927170B33E0F70
GO
Isoform 8 (identifier: Q14643-8) [UniParc]FASTAAdd to basket
Also known as: SI-SIII-SIIA

The sequence of this isoform differs from the canonical sequence as follows:
     322-336: Missing.
     919-927: Missing.
     1726-1740: Missing.

Show »
Length:2,719
Mass (Da):309,338
Checksum:i35A642696397A7EF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1557 – 1581AIAIP…SIVQK → HCHSRGPGQPSQQPLSQVPQ HCAE in AAD14386 (PubMed:8648241).CuratedAdd BLAST25
Sequence conflicti2302F → L in AAB04947 (PubMed:7852357).Curated1
Sequence conflicti2305F → L in AAB04947 (PubMed:7852357).Curated1
Sequence conflicti2448S → A in U23850 (PubMed:7500840).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069567602N → D in SCA29. 1 PublicationCorresponds to variant rs397514536dbSNPEnsembl.1
Natural variantiVAR_037005769M → V.Corresponds to variant rs35789999dbSNPEnsembl.1
Natural variantiVAR_0695681059P → L in SCA15. 1 Publication1
Natural variantiVAR_0370061430I → V.Corresponds to variant rs3749383dbSNPEnsembl.1
Natural variantiVAR_0695691562V → M in SCA29. 2 PublicationsCorresponds to variant rs397514535dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002687322 – 336Missing in isoform 2, isoform 4, isoform 5, isoform 7 and isoform 8. 3 PublicationsAdd BLAST15
Alternative sequenceiVSP_002688919 – 927Missing in isoform 3, isoform 4, isoform 5 and isoform 8. 3 Publications9
Alternative sequenceiVSP_0026891702 – 1725Missing in isoform 3 and isoform 4. 3 PublicationsAdd BLAST24
Alternative sequenceiVSP_0026901726 – 1740Missing in isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8. 3 PublicationsAdd BLAST15

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.
CCDSiCCDS46740.2. [Q14643-3]
CCDS54550.1. [Q14643-4]
CCDS54551.1. [Q14643-2]
PIRiA55713.
S54974.
RefSeqiNP_001093422.2. NM_001099952.2. [Q14643-3]
NP_002213.5. NM_002222.5. [Q14643-4]
XP_011531985.1. XM_011533683.2. [Q14643-1]
UniGeneiHs.567295.
Hs.715765.

Genome annotation databases

EnsembliENST00000302640; ENSP00000306253; ENSG00000150995. [Q14643-2]
ENST00000354582; ENSP00000346595; ENSG00000150995. [Q14643-1]
ENST00000357086; ENSP00000349597; ENSG00000150995. [Q14643-3]
ENST00000443694; ENSP00000401671; ENSG00000150995. [Q14643-2]
ENST00000456211; ENSP00000397885; ENSG00000150995. [Q14643-4]
GeneIDi3708.
KEGGihsa:3708.
UCSCiuc003bqc.3. human. [Q14643-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS46740.2. [Q14643-3]
CCDS54550.1. [Q14643-4]
CCDS54551.1. [Q14643-2]
PIRiA55713.
S54974.
RefSeqiNP_001093422.2. NM_001099952.2. [Q14643-3]
NP_002213.5. NM_002222.5. [Q14643-4]
XP_011531985.1. XM_011533683.2. [Q14643-1]
UniGeneiHs.567295.
Hs.715765.

3D structure databases

ProteinModelPortaliQ14643.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109913. 48 interactors.
DIPiDIP-29714N.
IntActiQ14643. 18 interactors.
MINTiMINT-4991320.
STRINGi9606.ENSP00000306253.

Chemistry databases

BindingDBiQ14643.
ChEMBLiCHEMBL4046.
DrugBankiDB00201. Caffeine.
GuidetoPHARMACOLOGYi743.

Protein family/group databases

TCDBi1.A.3.2.6. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

PTM databases

iPTMnetiQ14643.
PhosphoSitePlusiQ14643.

Polymorphism and mutation databases

BioMutaiITPR1.
DMDMi519668682.

Proteomic databases

EPDiQ14643.
MaxQBiQ14643.
PaxDbiQ14643.
PeptideAtlasiQ14643.
PRIDEiQ14643.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302640; ENSP00000306253; ENSG00000150995. [Q14643-2]
ENST00000354582; ENSP00000346595; ENSG00000150995. [Q14643-1]
ENST00000357086; ENSP00000349597; ENSG00000150995. [Q14643-3]
ENST00000443694; ENSP00000401671; ENSG00000150995. [Q14643-2]
ENST00000456211; ENSP00000397885; ENSG00000150995. [Q14643-4]
GeneIDi3708.
KEGGihsa:3708.
UCSCiuc003bqc.3. human. [Q14643-1]

Organism-specific databases

CTDi3708.
DisGeNETi3708.
GeneCardsiITPR1.
GeneReviewsiITPR1.
HGNCiHGNC:6180. ITPR1.
HPAiHPA014765.
HPA016487.
MalaCardsiITPR1.
MIMi117360. phenotype.
147265. gene.
606658. phenotype.
neXtProtiNX_Q14643.
OpenTargetsiENSG00000150995.
Orphaneti98769. Spinocerebellar ataxia type 15/16.
208513. Spinocerebellar ataxia type 29.
PharmGKBiPA29978.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3533. Eukaryota.
ENOG410XR97. LUCA.
GeneTreeiENSGT00760000119152.
HOGENOMiHOG000007660.
HOVERGENiHBG052158.
InParanoidiQ14643.
KOiK04958.
OMAiDPDDHYQ.
OrthoDBiEOG091G00T2.
PhylomeDBiQ14643.
TreeFamiTF312815.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000150995-MONOMER.
ReactomeiR-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-983695. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
SignaLinkiQ14643.
SIGNORiQ14643.

Miscellaneous databases

ChiTaRSiITPR1. human.
GeneWikiiITPR1.
GenomeRNAii3708.
PROiQ14643.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150995.
CleanExiHS_ITPR1.
ExpressionAtlasiQ14643. baseline and differential.
GenevisibleiQ14643. HS.

Family and domain databases

Gene3Di1.25.10.30. 2 hits.
InterProiIPR016024. ARM-type_fold.
IPR014821. Ins145_P3_rcpt.
IPR000493. InsP3_rcpt-bd.
IPR005821. Ion_trans_dom.
IPR016093. MIR_motif.
IPR013662. RIH_assoc-dom.
IPR000699. RIH_dom.
IPR015925. Ryanodine_recept-rel.
[Graphical view]
PANTHERiPTHR13715. PTHR13715. 1 hit.
PfamiPF08709. Ins145_P3_rec. 1 hit.
PF00520. Ion_trans. 1 hit.
PF02815. MIR. 1 hit.
PF08454. RIH_assoc. 1 hit.
PF01365. RYDR_ITPR. 2 hits.
[Graphical view]
PRINTSiPR00779. INSP3RECEPTR.
SMARTiSM00472. MIR. 4 hits.
[Graphical view]
SUPFAMiSSF100909. SSF100909. 2 hits.
SSF48371. SSF48371. 4 hits.
SSF82109. SSF82109. 2 hits.
PROSITEiPS50919. MIR. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiITPR1_HUMAN
AccessioniPrimary (citable) accession number: Q14643
Secondary accession number(s): E7EPX7
, E9PDE9, Q14660, Q99897
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: June 26, 2013
Last modified: November 30, 2016
This is version 188 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Miscellaneous

Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium-binding protein which then inhibits the receptor.

Caution

Alternative splice sites (AA 1053-1054) represent a non-canonical GA-AG donor-acceptor pair, but are well-supported by all available human transcripts, and by homologous transcripts in mouse, rat and cow.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.