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Q14643

- ITPR1_HUMAN

UniProt

Q14643 - ITPR1_HUMAN

Protein

Inositol 1,4,5-trisphosphate receptor type 1

Gene

ITPR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 164 (01 Oct 2014)
      Sequence version 3 (26 Jun 2013)
      Previous versions | rss
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    Functioni

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

    1. calcium ion transmembrane transporter activity Source: ProtInc
    2. inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: UniProtKB
    3. intracellular ligand-gated calcium channel activity Source: UniProtKB
    4. phosphatidylinositol binding Source: UniProtKB
    5. protein binding Source: UniProtKB

    GO - Biological processi

    1. activation of phospholipase C activity Source: Reactome
    2. blood coagulation Source: Reactome
    3. calcium ion transport Source: UniProtKB
    4. endoplasmic reticulum calcium ion homeostasis Source: Ensembl
    5. energy reserve metabolic process Source: Reactome
    6. epidermal growth factor receptor signaling pathway Source: Reactome
    7. Fc-epsilon receptor signaling pathway Source: Reactome
    8. Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
    9. fibroblast growth factor receptor signaling pathway Source: Reactome
    10. innate immune response Source: Reactome
    11. inositol phosphate-mediated signaling Source: GOC
    12. intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
    13. neurotrophin TRK receptor signaling pathway Source: Reactome
    14. platelet activation Source: Reactome
    15. post-embryonic development Source: Ensembl
    16. regulation of insulin secretion Source: Reactome
    17. release of sequestered calcium ion into cytosol Source: UniProtKB
    18. response to hypoxia Source: BHF-UCL
    19. signal transduction Source: UniProtKB
    20. small molecule metabolic process Source: Reactome
    21. voluntary musculoskeletal movement Source: Ensembl

    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

    ReactomeiREACT_111064. DAG and IP3 signaling.
    REACT_118700. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
    REACT_15426. PLC beta mediated events.
    REACT_160158. Role of phospholipids in phagocytosis.
    REACT_162. Elevation of cytosolic Ca2+ levels.
    REACT_163834. FCERI mediated Ca+2 mobilization.
    REACT_172761. Ca2+ pathway.
    REACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
    REACT_18325. Regulation of insulin secretion.
    REACT_2202. Effects of PIP2 hydrolysis.
    REACT_23767. cGMP effects.
    SignaLinkiQ14643.

    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
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:6180. ITPR1.

    Subcellular locationi

    GO - Cellular componenti

    1. calcineurin complex Source: Ensembl
    2. endoplasmic reticulum Source: UniProtKB
    3. endoplasmic reticulum membrane Source: Reactome
    4. integral component of membrane Source: UniProtKB-KW
    5. membrane Source: UniProtKB
    6. nuclear inner membrane Source: Ensembl
    7. nucleolus Source: Ensembl
    8. platelet dense granule membrane Source: BHF-UCL
    9. platelet dense tubular network Source: BHF-UCL
    10. platelet dense tubular network membrane Source: Reactome
    11. postsynaptic density Source: Ensembl
    12. sarcoplasmic reticulum Source: Ensembl

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia 15 (SCA15) [MIM:606658]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1059 – 10591P → L in SCA15. 1 Publication
    VAR_069568
    Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti602 – 6021N → D in SCA29. 1 Publication
    VAR_069567
    Natural varianti1562 – 15621V → M in SCA29. 1 Publication
    VAR_069569

    Keywords - Diseasei

    Disease mutation, Neurodegeneration, Spinocerebellar ataxia

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 27582758Inositol 1,4,5-trisphosphate receptor type 1PRO_0000153920Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei482 – 4821PhosphotyrosineSequence Analysis
    Cross-linki917 – 917Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki972 – 972Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki1581 – 1581Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Modified residuei1598 – 15981Phosphoserine4 Publications
    Modified residuei1764 – 17641Phosphoserine2 Publications
    Cross-linki1780 – 1780Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki1893 – 1893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki1894 – 1894Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki1895 – 1895Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki1910 – 1910Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki1933 – 1933Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki2127 – 2127Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Cross-linki2266 – 2266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Glycosylationi2512 – 25121N-linked (GlcNAc...)1 Publication
    Modified residuei2664 – 26641PhosphotyrosineSequence Analysis

    Post-translational modificationi

    Phosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels By similarity.By similarity
    Phosphorylated on tyrosine residues.4 Publications
    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

    Keywords - PTMi

    Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ14643.
    PaxDbiQ14643.
    PRIDEiQ14643.

    PTM databases

    PhosphoSiteiQ14643.

    Expressioni

    Tissue specificityi

    Widely expressed.

    Gene expression databases

    ArrayExpressiQ14643.
    BgeeiQ14643.
    CleanExiHS_ITPR1.
    GenevestigatoriQ14643.

    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 AHCYL1 By similarity. Interacts with MRVI1 and CABP1 (via N-terminus). Interacts with TESPA1.By similarity5 Publications

    Protein-protein interaction databases

    BioGridi109913. 30 interactions.
    DIPiDIP-29714N.
    IntActiQ14643. 3 interactions.
    MINTiMINT-4991320.
    STRINGi9606.ENSP00000405934.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14643.
    SMRiQ14643. Positions 7-580.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 22822282CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2304 – 231411LumenalSequence AnalysisAdd
    BLAST
    Topological domaini2336 – 236126CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2383 – 240523LumenalSequence AnalysisAdd
    BLAST
    Topological domaini2427 – 244822CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini2470 – 2577108LumenalSequence AnalysisAdd
    BLAST
    Topological domaini2599 – 2758160CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2283 – 230321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2315 – 233521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2362 – 238221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2406 – 242621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2449 – 246921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei2578 – 259821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini112 – 16655MIR 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini173 – 22351MIR 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini231 – 28757MIR 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini294 – 37380MIR 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini379 – 43557MIR 5PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni265 – 2695Inositol 1,4,5-trisphosphate bindingBy similarity
    Regioni508 – 5114Inositol 1,4,5-trisphosphate bindingBy similarity
    Regioni567 – 5693Inositol 1,4,5-trisphosphate bindingBy similarity
    Regioni2472 – 253766Interaction with ERP44By similarityAdd
    BLAST

    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

    eggNOGiNOG280601.
    HOGENOMiHOG000007660.
    HOVERGENiHBG052158.
    InParanoidiQ14643.
    KOiK04958.
    OMAiKAFTTFR.
    OrthoDBiEOG76HQ0M.
    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. Align

    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

    MSDKMSSFLH IGDICSLYAE GSTNGFISTL GLVDDRCVVQ PETGDLNNPP     50
    KKFRDCLFKL CPMNRYSAQK QFWKAAKPGA NSTTDAVLLN KLHHAADLEK 100
    KQNETENRKL LGTVIQYGNV IQLLHLKSNK YLTVNKRLPA LLEKNAMRVT 150
    LDEAGNEGSW FYIQPFYKLR SIGDSVVIGD KVVLNPVNAG QPLHASSHQL 200
    VDNPGCNEVN SVNCNTSWKI VLFMKWSDNK DDILKGGDVV RLFHAEQEKF 250
    LTCDEHRKKQ HVFLRTTGRQ SATSATSSKA LWEVEVVQHD PCRGGAGYWN 300
    SLFRFKHLAT GHYLAAEVDP DFEEECLEFQ PSVDPDQDAS RSRLRNAQEK 350
    MVYSLVSVPE GNDISSIFEL DPTTLRGGDS LVPRNSYVRL RHLCTNTWVH 400
    STNIPIDKEE EKPVMLKIGT SPVKEDKEAF AIVPVSPAEV RDLDFANDAS 450
    KVLGSIAGKL EKGTITQNER RSVTKLLEDL VYFVTGGTNS GQDVLEVVFS 500
    KPNRERQKLM REQNILKQIF KLLQAPFTDC GDGPMLRLEE LGDQRHAPFR 550
    HICRLCYRVL RHSQQDYRKN QEYIAKQFGF MQKQIGYDVL AEDTITALLH 600
    NNRKLLEKHI TAAEIDTFVS LVRKNREPRF LDYLSDLCVS MNKSIPVTQE 650
    LICKAVLNPT NADILIETKL VLSRFEFEGV SSTGENALEA GEDEEEVWLF 700
    WRDSNKEIRS KSVRELAQDA KEGQKEDRDV LSYYRYQLNL FARMCLDRQY 750
    LAINEISGQL DVDLILRCMS DENLPYDLRA SFCRLMLHMH VDRDPQEQVT 800
    PVKYARLWSE IPSEIAIDDY DSSGASKDEI KERFAQTMEF VEEYLRDVVC 850
    QRFPFSDKEK NKLTFEVVNL ARNLIYFGFY NFSDLLRLTK ILLAILDCVH 900
    VTTIFPISKM AKGEENKGNN DVEKLKSSNV MRSIHGVGEL MTQVVLRGGG 950
    FLPMTPMAAA PEGNVKQAEP EKEDIMVMDT KLKIIEILQF ILNVRLDYRI 1000
    SCLLCIFKRE FDESNSQTSE TSSGNSSQEG PSNVPGALDF EHIEEQAEGI 1050
    FGGSEENTPL DLDDHGGRTF LRVLLHLTMH DYPPLVSGAL QLLFRHFSQR 1100
    QEVLQAFKQV QLLVTSQDVD NYKQIKQDLD QLRSIVEKSE LWVYKGQGPD 1150
    ETMDGASGEN EHKKTEEGNN KPQKHESTSS YNYRVVKEIL IRLSKLCVQE 1200
    SASVRKSRKQ QQRLLRNMGA HAVVLELLQI PYEKAEDTKM QEIMRLAHEF 1250
    LQNFCAGNQQ NQALLHKHIN LFLNPGILEA VTMQHIFMNN FQLCSEINER 1300
    VVQHFVHCIE THGRNVQYIK FLQTIVKAEG KFIKKCQDMV MAELVNSGED 1350
    VLVFYNDRAS FQTLIQMMRS ERDRMDENSP LMYHIHLVEL LAVCTEGKNV 1400
    YTEIKCNSLL PLDDIVRVVT HEDCIPEVKI AYINFLNHCY VDTEVEMKEI 1450
    YTSNHMWKLF ENFLVDICRA CNNTSDRKHA DSILEKYVTE IVMSIVTTFF 1500
    SSPFSDQSTT LQTRQPVFVQ LLQGVFRVYH CNWLMPSQKA SVESCIRVLS 1550
    DVAKSRAIAI PVDLDSQVNN LFLKSHSIVQ KTAMNWRLSA RNAARRDSVL 1600
    AASRDYRNII ERLQDIVSAL EDRLRPLVQA ELSVLVDVLH RPELLFPENT 1650
    DARRKCESGG FICKLIKHTK QLLEENEEKL CIKVLQTLRE MMTKDRGYGE 1700
    KLISIDELDN AELPPAPDSE NATEELEPSP PLRQLEDHKR GEALRQVLVN 1750
    RYYGNVRPSG RRESLTSFGN GPLSAGGPGK PGGGGGGSGS SSMSRGEMSL 1800
    AEVQCHLDKE GASNLVIDLI MNASSDRVFH ESILLAIALL EGGNTTIQHS 1850
    FFCRLTEDKK SEKFFKVFYD RMKVAQQEIK ATVTVNTSDL GNKKKDDEVD 1900
    RDAPSRKKAK EPTTQITEEV RDQLLEASAA TRKAFTTFRR EADPDDHYQP 1950
    GEGTQATADK AKDDLEMSAV ITIMQPILRF LQLLCENHNR DLQNFLRCQN 2000
    NKTNYNLVCE TLQFLDCICG STTGGLGLLG LYINEKNVAL INQTLESLTE 2050
    YCQGPCHENQ NCIATHESNG IDIITALILN DINPLGKKRM DLVLELKNNA 2100
    SKLLLAIMES RHDSENAERI LYNMRPKELV EVIKKAYMQG EVEFEDGENG 2150
    EDGAASPRNV GHNIYILAHQ LARHNKELQS MLKPGGQVDG DEALEFYAKH 2200
    TAQIEIVRLD RTMEQIVFPV PSICEFLTKE SKLRIYYTTE RDEQGSKIND 2250
    FFLRSEDLFN EMNWQKKLRA QPVLYWCARN MSFWSSISFN LAVLMNLLVA 2300
    FFYPFKGVRG GTLEPHWSGL LWTAMLISLA IVIALPKPHG IRALIASTIL 2350
    RLIFSVGLQP TLFLLGAFNV CNKIIFLMSF VGNCGTFTRG YRAMVLDVEF 2400
    LYHLLYLVIC AMGLFVHEFF YSLLLFDLVY REETLLNVIK SVTRNGRSII 2450
    LTAVLALILV YLFSIVGYLF FKDDFILEVD RLPNETAVPE TGESLASEFL 2500
    FSDVCRVESG ENCSSPAPRE ELVPAEETEQ DKEHTCETLL MCIVTVLSHG 2550
    LRSGGGVGDV LRKPSKEEPL FAARVIYDLL FFFMVIIIVL NLIFGVIIDT 2600
    FADLRSEKQK KEEILKTTCF ICGLERDKFD NKTVTFEEHI KEEHNMWHYL 2650
    CFIVLVKVKD STEYTGPESY VAEMIKERNL DWFPRMRAMS LVSSDSEGEQ 2700
    NELRNLQEKL ESTMKLVTNL SGQLSELKDQ MTEQRKQKQR IGLLGHPPHM 2750
    NVNPQQPA 2758
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1557 – 158125AIAIP…SIVQK → HCHSRGPGQPSQQPLSQVPQ HCAE in AAD14386. (PubMed:8648241)CuratedAdd
    BLAST
    Sequence conflicti2302 – 23021F → L in AAB04947. (PubMed:7852357)Curated
    Sequence conflicti2305 – 23051F → L in AAB04947. (PubMed:7852357)Curated
    Sequence conflicti2448 – 24481S → A in U23850. (PubMed:7500840)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti602 – 6021N → D in SCA29. 1 Publication
    VAR_069567
    Natural varianti769 – 7691M → V.
    Corresponds to variant rs35789999 [ dbSNP | Ensembl ].
    VAR_037005
    Natural varianti1059 – 10591P → L in SCA15. 1 Publication
    VAR_069568
    Natural varianti1430 – 14301I → V.
    Corresponds to variant rs3749383 [ dbSNP | Ensembl ].
    VAR_037006
    Natural varianti1562 – 15621V → M in SCA29. 1 Publication
    VAR_069569

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei322 – 33615Missing in isoform 2, isoform 4, isoform 5, isoform 7 and isoform 8. 3 PublicationsVSP_002687Add
    BLAST
    Alternative sequencei919 – 9279Missing in isoform 3, isoform 4, isoform 5 and isoform 8. 3 PublicationsVSP_002688
    Alternative sequencei1702 – 172524Missing in isoform 3 and isoform 4. 3 PublicationsVSP_002689Add
    BLAST
    Alternative sequencei1726 – 174015Missing in isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8. 3 PublicationsVSP_002690Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    UniGeneiHs.567295.
    Hs.715765.

    Genome annotation databases

    EnsembliENST00000302640; ENSP00000306253; ENSG00000150995. [Q14643-2]
    ENST00000357086; ENSP00000349597; ENSG00000150995. [Q14643-3]
    ENST00000443694; ENSP00000401671; ENSG00000150995. [Q14643-2]
    ENST00000456211; ENSP00000397885; ENSG00000150995. [Q14643-4]
    GeneIDi3708.
    KEGGihsa:3708.
    UCSCiuc021wsi.1. human. [Q14643-3]
    uc021wsj.1. human. [Q14643-4]

    Polymorphism databases

    DMDMi519668682.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_002213.5. NM_002222.5. [Q14643-4 ]
    UniGenei Hs.567295.
    Hs.715765.

    3D structure databases

    ProteinModelPortali Q14643.
    SMRi Q14643. Positions 7-580.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109913. 30 interactions.
    DIPi DIP-29714N.
    IntActi Q14643. 3 interactions.
    MINTi MINT-4991320.
    STRINGi 9606.ENSP00000405934.

    Chemistry

    BindingDBi Q14643.
    ChEMBLi CHEMBL2111451.
    GuidetoPHARMACOLOGYi 743.

    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

    PhosphoSitei Q14643.

    Polymorphism databases

    DMDMi 519668682.

    Proteomic databases

    MaxQBi Q14643.
    PaxDbi Q14643.
    PRIDEi Q14643.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302640 ; ENSP00000306253 ; ENSG00000150995 . [Q14643-2 ]
    ENST00000357086 ; ENSP00000349597 ; ENSG00000150995 . [Q14643-3 ]
    ENST00000443694 ; ENSP00000401671 ; ENSG00000150995 . [Q14643-2 ]
    ENST00000456211 ; ENSP00000397885 ; ENSG00000150995 . [Q14643-4 ]
    GeneIDi 3708.
    KEGGi hsa:3708.
    UCSCi uc021wsi.1. human. [Q14643-3 ]
    uc021wsj.1. human. [Q14643-4 ]

    Organism-specific databases

    CTDi 3708.
    GeneCardsi GC03P004486.
    GeneReviewsi ITPR1.
    HGNCi HGNC:6180. ITPR1.
    HPAi HPA014765.
    HPA016487.
    MIMi 117360. phenotype.
    147265. gene.
    606658. phenotype.
    neXtProti NX_Q14643.
    Orphaneti 98769. Spinocerebellar ataxia type 15/16.
    208513. Spinocerebellar ataxia type 29.
    PharmGKBi PA29978.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG280601.
    HOGENOMi HOG000007660.
    HOVERGENi HBG052158.
    InParanoidi Q14643.
    KOi K04958.
    OMAi KAFTTFR.
    OrthoDBi EOG76HQ0M.
    PhylomeDBi Q14643.
    TreeFami TF312815.

    Enzyme and pathway databases

    Reactomei REACT_111064. DAG and IP3 signaling.
    REACT_118700. Antigen activates B Cell Receptor (BCR) leading to generation of second messengers.
    REACT_15426. PLC beta mediated events.
    REACT_160158. Role of phospholipids in phagocytosis.
    REACT_162. Elevation of cytosolic Ca2+ levels.
    REACT_163834. FCERI mediated Ca+2 mobilization.
    REACT_172761. Ca2+ pathway.
    REACT_18274. Glucagon-like Peptide-1 (GLP1) regulates insulin secretion.
    REACT_18325. Regulation of insulin secretion.
    REACT_2202. Effects of PIP2 hydrolysis.
    REACT_23767. cGMP effects.
    SignaLinki Q14643.

    Miscellaneous databases

    ChiTaRSi ITPR1. human.
    GeneWikii ITPR1.
    GenomeRNAii 3708.
    NextBioi 14533.
    PROi Q14643.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14643.
    Bgeei Q14643.
    CleanExi HS_ITPR1.
    Genevestigatori Q14643.

    Family and domain databases

    Gene3Di 1.25.10.30. 2 hits.
    InterProi IPR016024. 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 ]
    PANTHERi PTHR13715. PTHR13715. 1 hit.
    Pfami 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.
    [Graphical view ]
    PRINTSi PR00779. INSP3RECEPTR.
    SMARTi SM00472. MIR. 4 hits.
    [Graphical view ]
    SUPFAMi SSF100909. SSF100909. 2 hits.
    SSF48371. SSF48371. 4 hits.
    SSF82109. SSF82109. 2 hits.
    PROSITEi PS50919. MIR. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization."
      Yamada N., Makino Y., Clark R.A., Pearson D.W., Mattei M.-G., Guenet J.-L., Ohama E., Fujino I., Miyawaki A., Furuichi T., Mikoshiba K.
      Biochem. J. 302:781-790(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
      Tissue: Myeloid and Uterus.
    2. "The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation."
      Harnick D.J., Jayaraman T., Ma Y., Mulieri P., Go L.O., Marks A.R.
      J. Biol. Chem. 270:2833-2840(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), PHOSPHORYLATION.
      Tissue: T-cell.
    3. Marks A.
      Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO 431; 1012-1017; 1460; 1823; 2324; 2330; 2334; 2337; 2346; 2358; 2361; 2372; 2396; 2418; 2426; 2434 AND 2741.
    4. "Molecular cloning of a cDNA for the human inositol 1,4,5-trisphosphate receptor type 1, and the identification of a third alternatively spliced variant."
      Nucifora F.C. Jr., Li S.-H., Danoff S., Ullrich A., Ross C.A.
      Brain Res. Mol. Brain Res. 32:291-296(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
      Tissue: Brain.
    5. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Induction of inositol 1,4,5 trisphosphate receptor genes by ionizing radiation."
      Yan J., Khanna K.K., Lavin M.F.
      Int. J. Radiat. Biol. 69:539-546(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1548-1723 (ISOFORMS 3 AND 4).
    7. "Identification of a family of calcium sensors as protein ligands of inositol trisphosphate receptor Ca(2+) release channels."
      Yang J., McBride S., Mak D.-O.D., Vardi N., Palczewski K., Haeseleer F., Foskett J.K.
      Proc. Natl. Acad. Sci. U.S.A. 99:7711-7716(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CABP1.
    8. Cited for: INTERACTION WITH CABP1.
    9. "Subtype-specific and ER lumenal environment-dependent regulation of inositol 1,4,5-trisphosphate receptor type 1 by ERp44."
      Higo T., Hattori M., Nakamura T., Natsume T., Michikawa T., Mikoshiba K.
      Cell 120:85-98(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ERP44.
    10. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1598, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation."
      Antl M., von Bruehl M.-L., Eiglsperger C., Werner M., Konrad I., Kocher T., Wilm M., Hofmann F., Massberg S., Schlossmann J.
      Blood 109:552-559(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MRVI1.
    12. Cited for: INVOLVEMENT IN SCA15.
    13. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1598 AND SER-1764, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-2512.
      Tissue: Liver.
    15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1598, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. "Tespa1 is a novel inositol 1,4,5-trisphosphate receptor binding protein in T and B lymphocytes."
      Matsuzaki H., Fujimoto T., Ota T., Ogawa M., Tsunoda T., Doi K., Hamabashiri M., Tanaka M., Shirasawa S.
      FEBS Open Bio 2:255-259(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TESPA1.
    17. Cited for: VARIANT SCA15 LEU-1059.
    18. "Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia."
      Huang L., Chardon J.W., Carter M.T., Friend K.L., Dudding T.E., Schwartzentruber J., Zou R., Schofield P.W., Douglas S., Bulman D.E., Boycott K.M.
      Orphanet J. Rare Dis. 7:67-67(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCA29 ASP-602 AND MET-1562.

    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: October 1, 2014
    This is version 164 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

    External Data

    Dasty 3