GenomeNet

Database: RefSeq
Entry: NP_002213
LinkDB: NP_002213
Original site: NP_002213 
LOCUS       NP_002213               2695 aa            linear   PRI 23-FEB-2019
DEFINITION  inositol 1,4,5-trisphosphate receptor type 1 isoform 2 [Homo
            sapiens].
ACCESSION   NP_002213
VERSION     NP_002213.5
DBSOURCE    REFSEQ: accession NM_002222.5
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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 2695)
  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 DA060305.1, DB260851.1,
            D26070.1, AK293752.1, AK294594.1, AB208868.1, BQ006717.1 and
            BG202086.1.
            On Nov 26, 2009 this sequence version replaced NP_002213.4.
            
            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 (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in a shorter isoform (2), compared to 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##
            Transcript exon combination :: D26070.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2695
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     Protein         1..2695
                     /product="inositol 1,4,5-trisphosphate receptor type 1
                     isoform 2"
                     /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=306644
     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          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"
     Region          1185..1316
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:279676"
     Region          1910..2015
                     /region_name="RIH_assoc"
                     /note="RyR and IP3R Homology associated; pfam08454"
                     /db_xref="CDD:285630"
     Region          2287..2546
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:278921"
     CDS             1..2695
                     /gene="ITPR1"
                     /gene_synonym="ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94;
                     SCA15; SCA16; SCA29"
                     /coded_by="NM_002222.5:351..8438"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS54550.1"
                     /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 nkgsnvmrsi hgvgelmtqv vlrgggflpm tpmaaapegn vkqaepeked imvmdtklki
      961 ieilqfilnv rldyriscll cifkrefdes nsqtsetssg nssqegpsnv pgaldfehie
     1021 eqaegifggs eentpldldd hggrtflrvl lhltmhdypp lvsgalqllf rhfsqrqevl
     1081 qafkqvqllv tsqdvdnykq ikqdldqlrs ivekselwvy kgqgpdetmd gasgenehkk
     1141 teegnnkpqk hestssynyr vvkeilirls klcvqesasv rksrkqqqrl lrnmgahavv
     1201 lellqipyek aedtkmqeim rlaheflqnf cagnqqnqal lhkhinlfln pgileavtmq
     1261 hifmnnfqlc seinervvqh fvhciethgr nvqyikflqt ivkaegkfik kcqdmvmael
     1321 vnsgedvlvf yndrasfqtl iqmmrserdr mdensplmyh ihlvellavc tegknvytei
     1381 kcnsllpldd ivrvvthedc ipevkiayin flnhcyvdte vemkeiytsn hmwklfenfl
     1441 vdicracnnt sdrkhadsil ekyvteivms ivttffsspf sdqsttlqtr qpvfvqllqg
     1501 vfrvyhcnwl mpsqkasves cirvlsdvak sraiaipvdl dsqvnnlflk shsivqktam
     1561 nwrlsarnaa rrdsvlaasr dyrniierlq divsaledrl rplvqaelsv lvdvlhrpel
     1621 lfpentdarr kcesggfick likhtkqlle eneeklcikv lqtlremmtk drgygekgea
     1681 lrqvlvnryy gnvrpsgrre sltsfgngpl saggpgkpgg ggggsgsssm srgemslaev
     1741 qchldkegas nlvidlimna ssdrvfhesi llaiallegg nttiqhsffc rltedkksek
     1801 ffkvfydrmk vaqqeikatv tvntsdlgnk kkddevdrda psrkkakept tqiteevrdq
     1861 lleasaatrk afttfrread pddhyqpgeg tqatadkakd dlemsaviti mqpilrflql
     1921 lcenhnrdlq nflrcqnnkt nynlvcetlq fldcicgstt gglgllglyi neknvalinq
     1981 tleslteycq gpchenqnci athesngidi italilndin plgkkrmdlv lelknnaskl
     2041 llaimesrhd senaerilyn mrpkelvevi kkaymqgeve fedgengedg aasprnvghn
     2101 iyilahqlar hnkelqsmlk pggqvdgdea lefyakhtaq ieivrldrtm eqivfpvpsi
     2161 cefltkeskl riyytterde qgskindffl rsedlfnemn wqkklraqpv lywcarnmsf
     2221 wssisfnlav lmnllvaffy pfkgvrggtl ephwsgllwt amlislaivi alpkphgira
     2281 liastilrli fsvglqptlf llgafnvcnk iiflmsfvgn cgtftrgyra mvldveflyh
     2341 llylvicamg lfvheffysl llfdlvyree tllnviksvt rngrsiilta vlalilvylf
     2401 sivgylffkd dfilevdrlp netavpetge slaseflfsd vcrvesgenc sspapreelv
     2461 paeeteqdke htcetllmci vtvlshglrs gggvgdvlrk pskeeplfaa rviydllfff
     2521 mviiivlnli fgviidtfad lrsekqkkee ilkttcficg lerdkfdnkt vtfeehikee
     2581 hnmwhylcfi vlvkvkdste ytgpesyvae mikernldwf prmramslvs sdsegeqnel
     2641 rnlqeklest mklvtnlsgq lselkdqmte qrkqkqrigl lghpphmnvn pqqpa
//
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