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Protein

Inositol 1,4,5-trisphosphate receptor type 1

Gene

ITPR1

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

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 Publication

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionCalcium channel, Ion channel, Ligand-gated ion channel, Receptor
Biological processApoptosis, Calcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000150995.18
HGNCiHGNC:6180 ITPR1
MIMi147265 gene
neXtProtiNX_Q14643

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, 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 dbSNP:rs397514536Ensembl.1
Natural variantiVAR_0695691562V → M in SCA29. 2 PublicationsCorresponds to variant dbSNP:rs397514535Ensembl.1
Gillespie syndrome (GLSP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.
See also OMIM:206700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0774622109E → Q in GLSP. 1 Publication1
Natural variantiVAR_0774632554G → R in GLSP. 1 PublicationCorresponds to variant dbSNP:rs752281590Ensembl.1
Natural variantiVAR_0774642601F → L in GLSP. 1 PublicationCorresponds to variant dbSNP:rs878853176Ensembl.1
Natural variantiVAR_0774652611Missing in GLSP; alters calcium release of isoform 3. 2 Publications1

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, Mental retardation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi3708
GeneReviewsiITPR1
MalaCardsiITPR1
MIMi117360 phenotype
206700 phenotype
606658 phenotype
OpenTargetsiENSG00000150995
Orphaneti98769 Spinocerebellar ataxia type 15/16
208513 Spinocerebellar ataxia type 29
PharmGKBiPA29978

Chemistry databases

ChEMBLiCHEMBL4046
DrugBankiDB00201 Caffeine
DB04077 Glycerol
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
Lipidationi56S-palmitoyl cysteineBy similarity1
Modified residuei482PhosphotyrosineSequence analysis1
Lipidationi850S-palmitoyl cysteineBy similarity1
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...) asparagine1 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
Palmitoylated by ZDHHC6 in immune cells, leading to regulate ITPR1 stability and function.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14643
MaxQBiQ14643
PaxDbiQ14643
PeptideAtlasiQ14643
PRIDEiQ14643

PTM databases

iPTMnetiQ14643
PhosphoSitePlusiQ14643
SwissPalmiQ14643

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
AKT1P317492EBI-465548,EBI-296087

Protein-protein interaction databases

BioGridi109913, 52 interactors
CORUMiQ14643
DIPiDIP-29714N
ELMiQ14643
IntActiQ14643, 22 interactors
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

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

InterProiView 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
IPR015925 Ryanodine_recept-rel
IPR035910 RyR/IP3R_RIH_dom_sf
PANTHERiPTHR13715 PTHR13715, 1 hit
PfamiView 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
PRINTSiPR00779 INSP3RECEPTR
SMARTiView protein in SMART
SM00472 MIR, 4 hits
SUPFAMiSSF100909 SSF100909, 2 hits
SSF48371 SSF48371, 4 hits
SSF82109 SSF82109, 2 hits
PROSITEiView protein in PROSITE
PS50919 MIR, 5 hits

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.
     1702-1724: Missing.
     1725-1740: 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.
     1702-1724: Missing.
     1725-1740: 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:
     1725-1740: Missing.

Show »
Length:2,742
Mass (Da):312,003
Checksum:i5FA3417B70F0BFCC
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.
     1725-1740: Missing.

Show »
Length:2,727
Mass (Da):310,237
Checksum:i908B9527BD9F6A6A
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.
     1725-1740: Missing.

Show »
Length:2,718
Mass (Da):309,209
Checksum:i74B88CF71437F549
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 dbSNP:rs397514536Ensembl.1
Natural variantiVAR_037005769M → V. Corresponds to variant dbSNP:rs35789999Ensembl.1
Natural variantiVAR_0695681059P → L in SCA15. 1 Publication1
Natural variantiVAR_0370061430I → V. Corresponds to variant dbSNP:rs3749383Ensembl.1
Natural variantiVAR_0695691562V → M in SCA29. 2 PublicationsCorresponds to variant dbSNP:rs397514535Ensembl.1
Natural variantiVAR_0774622109E → Q in GLSP. 1 Publication1
Natural variantiVAR_0774632554G → R in GLSP. 1 PublicationCorresponds to variant dbSNP:rs752281590Ensembl.1
Natural variantiVAR_0774642601F → L in GLSP. 1 PublicationCorresponds to variant dbSNP:rs878853176Ensembl.1
Natural variantiVAR_0774652611Missing in GLSP; alters calcium release of isoform 3. 2 Publications1

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 – 1724Missing in isoform 3 and isoform 4. 3 PublicationsAdd BLAST23
Alternative sequenceiVSP_0026901725 – 1740Missing in isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8. 3 PublicationsAdd BLAST16

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_001161744.1, NM_001168272.1 [Q14643-2]
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

Similar proteinsi

Entry informationi

Entry nameiITPR1_HUMAN
AccessioniPrimary (citable) accession number: Q14643
Secondary accession number(s): E7EPX7
, E9PDE9, Q14660, Q99897
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: June 26, 2013
Last modified: May 23, 2018
This is version 203 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

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