GenomeNet

Database: RefSeq
Entry: NP_001161744
LinkDB: NP_001161744
Original site: NP_001161744 
LOCUS       NP_001161744            2743 aa            linear   PRI 23-FEB-2019
DEFINITION  inositol 1,4,5-trisphosphate receptor type 1 isoform 3 [Homo
            sapiens].
ACCESSION   NP_001161744
VERSION     NP_001161744.1
DBSOURCE    REFSEQ: accession NM_001168272.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 2743)
  AUTHORS   Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF and Sobreira
            NLM.
  TITLE     Additional features of Gillespie syndrome in two Brazilian siblings
            with a novel ITPR1 homozygous pathogenic variant
  JOURNAL   Eur J Med Genet 61 (3), 134-138 (2018)
   PUBMED   29169895
  REMARK    GeneRIF: ITPR1 homozygous pathogenic variant is associated with
            Gillespie syndrome presenting a cardiac defect (pulmonary valve
            stenosis) and a genitourinary malformation.
REFERENCE   2  (residues 1 to 2743)
  AUTHORS   Payne R, Hoff H, Roskowski A and Foskett JK.
  TITLE     MICU2 Restricts Spatial Crosstalk between InsP3R and MCU Channels
            by Regulating Threshold and Gain of MICU1-Mediated Inhibition and
            Activation of MCU
  JOURNAL   Cell Rep 21 (11), 3141-3154 (2017)
   PUBMED   29241542
  REMARK    GeneRIF: MICU2 restricts spatial crosstalk between InsP3R and MCU
            channels by regulating threshold and gain of MICU1-mediated
            inhibition and activation of MCU.
REFERENCE   3  (residues 1 to 2743)
  AUTHORS   Hsiao CT, Liu YT, Liao YC, Hsu TY, Lee YC and Soong BW.
  TITLE     Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar
            ataxias
  JOURNAL   PLoS ONE 12 (11), e0187503 (2017)
   PUBMED   29186133
  REMARK    GeneRIF: study broadens the mutational spectrum of ITPR1 and also
            emphasizes the importance of considering ITPR1 mutations as a
            potential cause of inherited cerebellar ataxias
            Erratum:[PLoS One. 2018 Feb 8;13(2):e0192866. PMID: 29420659]
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 2743)
  AUTHORS   Thillaiappan NB, Chavda AP, Tovey SC, Prole DL and Taylor CW.
  TITLE     Ca(2+) signals initiate at immobile IP3 receptors adjacent to
            ER-plasma membrane junctions
  JOURNAL   Nat Commun 8 (1), 1505 (2017)
   PUBMED   29138405
  REMARK    GeneRIF: Data show that native IP3 receptors (IP3Rs) are scaffolded
            into small clusters within endoplasmic reticulum (ER) membranes.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2743)
  AUTHORS   Kirkwood KL, Homick K, Dragon MB and Bradford PG.
  TITLE     Cloning and characterization of the type I inositol
            1,4,5-trisphosphate receptor gene promoter. Regulation by
            17beta-estradiol in osteoblasts
  JOURNAL   J. Biol. Chem. 272 (36), 22425-22431 (1997)
   PUBMED   9278393
REFERENCE   6  (residues 1 to 2743)
  AUTHORS   Joseph SK, Lin C, Pierson S, Thomas AP and Maranto AR.
  TITLE     Heteroligomers of type-I and type-III inositol trisphosphate
            receptors in WB rat liver epithelial cells
  JOURNAL   J. Biol. Chem. 270 (40), 23310-23316 (1995)
   PUBMED   7559486
  REMARK    Erratum:[J Biol Chem 1996 Mar 29;271(13):7874]
REFERENCE   7  (residues 1 to 2743)
  AUTHORS   Nucifora FC Jr, Li SH, Danoff S, Ullrich A and Ross CA.
  TITLE     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
  JOURNAL   Brain Res. Mol. Brain Res. 32 (2), 291-296 (1995)
   PUBMED   7500840
REFERENCE   8  (residues 1 to 2743)
  AUTHORS   Storey,E.
  TITLE     Spinocerebellar Ataxia Type 15
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301536
REFERENCE   9  (residues 1 to 2743)
  AUTHORS   Bird,T.D.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301317
REFERENCE   10 (residues 1 to 2743)
  AUTHORS   Mahaut-Smith MP, Sage SO and Rink TJ.
  TITLE     Receptor-activated single channels in intact human platelets
  JOURNAL   J. Biol. Chem. 265 (18), 10479-10483 (1990)
   PUBMED   1693919
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC024168.5, AC090944.2,
            AC069248.4, AC018816.6 and U23850.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes an intracellular receptor for inositol
            1,4,5-trisphosphate. Upon stimulation by inositol
            1,4,5-trisphosphate, this receptor mediates calcium release from
            the endoplasmic reticulum. Mutations in this gene cause
            spinocerebellar ataxia type 15, a disease associated with an
            heterogeneous group of cerebellar disorders. Multiple transcript
            variants have been identified for this gene. [provided by RefSeq,
            Nov 2009].
            
            Transcript Variant: This variant (3) lacks an alternate in-frame
            exon, uses an alternate in-frame splice site and includes three
            additional exons in the central coding region, compared to variant
            1, resulting in an isoform (3) that is longer than isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2145743,
                              SAMEA2154665 [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2743
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     Protein         1..2743
                     /product="inositol 1,4,5-trisphosphate receptor type 1
                     isoform 3"
                     /note="inositol 1,4,5-triphosphate receptor, type 1;
                     protein phosphatase 1, regulatory subunit 94; type 1 InsP3
                     receptor; IP3 receptor; IP3R 1; type 1 inositol
                     1,4,5-trisphosphate receptor"
                     /calculated_mol_wt=312034
     Region          4..225
                     /region_name="Ins145_P3_rec"
                     /note="Inositol 1,4,5-trisphosphate/ryanodine receptor;
                     pfam08709"
                     /db_xref="CDD:285871"
     Region          231..287
                     /region_name="MIR"
                     /note="Domain in ryanodine and inositol trisphosphate
                     receptors and protein O-mannosyltransferases; smart00472"
                     /db_xref="CDD:197746"
     Region          232..418
                     /region_name="MIR"
                     /note="MIR domain; pfam02815"
                     /db_xref="CDD:280906"
     Region          265..269
                     /region_name="Inositol 1,4,5-trisphosphate binding.
                     {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          294..349
                     /region_name="MIR"
                     /note="Domain in ryanodine and inositol trisphosphate
                     receptors and protein O-mannosyltransferases; smart00472"
                     /db_xref="CDD:197746"
     Region          461..650
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:279676"
     Site            467
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine. {ECO:0000255}; propagated from
                     UniProtKB/Swiss-Prot (Q14643.3)"
     Region          493..496
                     /region_name="Inositol 1,4,5-trisphosphate binding.
                     {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          552..554
                     /region_name="Inositol 1,4,5-trisphosphate binding.
                     {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          1194..1325
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:279676"
     Site            1583
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:17081983,
                     ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:20068231,
                     ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569};
                     propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            1749
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:23186163}; propagated from
                     UniProtKB/Swiss-Prot (Q14643.3)"
     Region          1958..2063
                     /region_name="RIH_assoc"
                     /note="RyR and IP3R Homology associated; pfam08454"
                     /db_xref="CDD:285630"
     Site            2268..2288
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2300..2320
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          2335..2594
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:278921"
     Site            2347..2367
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2391..2411
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2434..2454
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          2457..2522
                     /region_name="Interaction with ERP44. {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2497
                     /site_type="glycosylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-linked (GlcNAc...) asparagine.
                     {ECO:0000269|PubMed:19159218}; propagated from
                     UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2563..2583
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2649
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine. {ECO:0000255}; propagated from
                     UniProtKB/Swiss-Prot (Q14643.3)"
     CDS             1..2743
                     /gene="ITPR1"
                     /gene_synonym="ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94;
                     SCA15; SCA16; SCA29"
                     /coded_by="NM_001168272.1:351..8582"
                     /note="isoform 3 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS54551.1"
                     /db_xref="GeneID:3708"
                     /db_xref="HGNC:HGNC:6180"
                     /db_xref="MIM:147265"
ORIGIN      
        1 msdkmssflh igdicslyae gstngfistl glvddrcvvq petgdlnnpp kkfrdclfkl
       61 cpmnrysaqk qfwkaakpga nsttdavlln klhhaadlek kqnetenrkl lgtviqygnv
      121 iqllhlksnk yltvnkrlpa lleknamrvt ldeagnegsw fyiqpfyklr sigdsvvigd
      181 kvvlnpvnag qplhasshql vdnpgcnevn svncntswki vlfmkwsdnk ddilkggdvv
      241 rlfhaeqekf ltcdehrkkq hvflrttgrq satsatsska lwevevvqhd pcrggagywn
      301 slfrfkhlat ghylaaevdp dqdasrsrlr naqekmvysl vsvpegndis sifeldpttl
      361 rggdslvprn syvrlrhlct ntwvhstnip idkeeekpvm lkigtspvke dkeafaivpv
      421 spaevrdldf andaskvlgs iagklekgti tqnerrsvtk lledlvyfvt ggtnsgqdvl
      481 evvfskpnre rqklmreqni lkqifkllqa pftdcgdgpm lrleelgdqr hapfrhicrl
      541 cyrvlrhsqq dyrknqeyia kqfgfmqkqi gydvlaedti tallhnnrkl lekhitaaei
      601 dtfvslvrkn reprfldyls dlcvsmnksi pvtqelicka vlnptnadil ietklvlsrf
      661 efegvsstge naleagedee evwlfwrdsn keirsksvre laqdakegqk edrdvlsyyr
      721 yqlnlfarmc ldrqylaine isgqldvdli lrcmsdenlp ydlrasfcrl mlhmhvdrdp
      781 qeqvtpvkya rlwseipsei aiddydssga skdeikerfa qtmefveeyl rdvvcqrfpf
      841 sdkeknkltf evvnlarnli yfgfynfsdl lrltkillai ldcvhvttif piskmakgee
      901 nkgnndvekl kssnvmrsih gvgelmtqvv lrgggflpmt pmaaapegnv kqaepekedi
      961 mvmdtklkii eilqfilnvr ldyriscllc ifkrefdesn sqtsetssgn ssqegpsnvp
     1021 galdfehiee qaegifggse entpldlddh ggrtflrvll hltmhdyppl vsgalqllfr
     1081 hfsqrqevlq afkqvqllvt sqdvdnykqi kqdldqlrsi vekselwvyk gqgpdetmdg
     1141 asgenehkkt eegnnkpqkh estssynyrv vkeilirlsk lcvqesasvr ksrkqqqrll
     1201 rnmgahavvl ellqipyeka edtkmqeimr laheflqnfc agnqqnqall hkhinlflnp
     1261 gileavtmqh ifmnnfqlcs einervvqhf vhciethgrn vqyikflqti vkaegkfikk
     1321 cqdmvmaelv nsgedvlvfy ndrasfqtli qmmrserdrm densplmyhi hlvellavct
     1381 egknvyteik cnsllplddi vrvvthedci pevkiayinf lnhcyvdtev emkeiytsnh
     1441 mwklfenflv dicracnnts drkhadsile kyvteivmsi vttffsspfs dqsttlqtrq
     1501 pvfvqllqgv frvyhcnwlm psqkasvesc irvlsdvaks raiaipvdld sqvnnlflks
     1561 hsivqktamn wrlsarnaar rdsvlaasrd yrniierlqd ivsaledrlr plvqaelsvl
     1621 vdvlhrpell fpentdarrk cesggfickl ikhtkqllee neeklcikvl qtlremmtkd
     1681 rgygeklisi deldnaelpp apdsenatee lepspplrql edhkrgealr qvlvnryygn
     1741 vrpsgrresl tsfgngplsa ggpgkpgggg ggsgsssmsr gemslaevqc hldkegasnl
     1801 vidlimnass drvfhesill aialleggnt tiqhsffcrl tedkksekff kvfydrmkva
     1861 qqeikatvtv ntsdlgnkkk ddevdrdaps rkkakepttq iteevrdqll easaatrkaf
     1921 ttfrreadpd dhyqpgegtq atadkakddl emsavitimq pilrflqllc enhnrdlqnf
     1981 lrcqnnktny nlvcetlqfl dcicgsttgg lgllglyine knvalinqtl eslteycqgp
     2041 chenqnciat hesngidiit alilndinpl gkkrmdlvle lknnasklll aimesrhdse
     2101 naerilynmr pkelvevikk aymqgevefe dgengedgaa sprnvghniy ilahqlarhn
     2161 kelqsmlkpg gqvdgdeale fyakhtaqie ivrldrtmeq ivfpvpsice fltkesklri
     2221 yytterdeqg skindfflrs edlfnemnwq kklraqpvly wcarnmsfws sisfnlavlm
     2281 nllvaffypf kgvrggtlep hwsgllwtam lislaivial pkphgirali astilrlifs
     2341 vglqptlfll gafnvcnkii flmsfvgncg tftrgyramv ldveflyhll ylvicamglf
     2401 vheffyslll fdlvyreetl lnviksvtrn grsiiltavl alilvylfsi vgylffkddf
     2461 ilevdrlpne tavpetgesl aseflfsdvc rvesgencss papreelvpa eeteqdkeht
     2521 cetllmcivt vlshglrsgg gvgdvlrkps keeplfaarv iydllfffmv iiivlnlifg
     2581 viidtfadlr sekqkkeeil kttcficgle rdkfdnktvt feehikeehn mwhylcfivl
     2641 vkvkdsteyt gpesyvaemi kernldwfpr mramslvssd segeqnelrn lqeklestmk
     2701 lvtnlsgqls elkdqmteqr kqkqrigllg hpphmnvnpq qpa
//
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