GenomeNet

Database: RefSeq
Entry: NP_001093422
LinkDB: NP_001093422
Original site: NP_001093422 
LOCUS       NP_001093422            2710 aa            linear   PRI 23-FEB-2019
DEFINITION  inositol 1,4,5-trisphosphate receptor type 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001093422
VERSION     NP_001093422.2
DBSOURCE    REFSEQ: accession NM_001099952.2
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 2710)
  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 2710)
  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 2710)
  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 2710)
  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 2710)
  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 2710)
  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 2710)
  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 2710)
  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 2710)
  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 2710)
  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,
            L38019.2, AK293752.1, AW501800.1, BM695661.1, AK309981.1,
            AB208868.1, BQ006717.1 and BG202086.1.
            On Nov 26, 2009 this sequence version replaced NP_001093422.1.
            
            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 (1) encodes 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 :: L38019.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..2710
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p26.1"
     Protein         1..2710
                     /product="inositol 1,4,5-trisphosphate receptor type 1
                     isoform 1"
                     /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=308410
     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..433
                     /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..>321
                     /region_name="MIR"
                     /note="Domain in ryanodine and inositol trisphosphate
                     receptors and protein O-mannosyltransferases; smart00472"
                     /db_xref="CDD:197746"
     Region          476..665
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:279676"
     Site            482
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine. {ECO:0000255}; propagated from
                     UniProtKB/Swiss-Prot (Q14643.3)"
     Region          508..511
                     /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          567..569
                     /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          1200..1331
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:279676"
     Site            1589
                     /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            1716
                     /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          1925..2030
                     /region_name="RIH_assoc"
                     /note="RyR and IP3R Homology associated; pfam08454"
                     /db_xref="CDD:285630"
     Site            2235..2255
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2267..2287
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          2302..2561
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:278921"
     Site            2314..2334
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2358..2378
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2401..2421
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Region          2424..2489
                     /region_name="Interaction with ERP44. {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2464
                     /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            2530..2550
                     /site_type="transmembrane region"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q14643.3)"
     Site            2616
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine. {ECO:0000255}; propagated from
                     UniProtKB/Swiss-Prot (Q14643.3)"
     CDS             1..2710
                     /gene="ITPR1"
                     /gene_synonym="ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94;
                     SCA15; SCA16; SCA29"
                     /coded_by="NM_001099952.2:351..8483"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS46740.2"
                     /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 dfeeeclefq psvdpdqdas rsrlrnaqek mvyslvsvpe
      361 gndissifel dpttlrggds lvprnsyvrl rhlctntwvh stnipidkee ekpvmlkigt
      421 spvkedkeaf aivpvspaev rdldfandas kvlgsiagkl ekgtitqner rsvtklledl
      481 vyfvtggtns gqdvlevvfs kpnrerqklm reqnilkqif kllqapftdc gdgpmlrlee
      541 lgdqrhapfr hicrlcyrvl rhsqqdyrkn qeyiakqfgf mqkqigydvl aedtitallh
      601 nnrkllekhi taaeidtfvs lvrknreprf ldylsdlcvs mnksipvtqe lickavlnpt
      661 nadilietkl vlsrfefegv sstgenalea gedeeevwlf wrdsnkeirs ksvrelaqda
      721 kegqkedrdv lsyyryqlnl farmcldrqy laineisgql dvdlilrcms denlpydlra
      781 sfcrlmlhmh vdrdpqeqvt pvkyarlwse ipseiaiddy dssgaskdei kerfaqtmef
      841 veeylrdvvc qrfpfsdkek nkltfevvnl arnliyfgfy nfsdllrltk illaildcvh
      901 vttifpiskm akgeenkgsn vmrsihgvge lmtqvvlrgg gflpmtpmaa apegnvkqae
      961 pekedimvmd tklkiieilq filnvrldyr iscllcifkr efdesnsqts etssgnssqe
     1021 gpsnvpgald fehieeqaeg ifggseentp ldlddhggrt flrvllhltm hdypplvsga
     1081 lqllfrhfsq rqevlqafkq vqllvtsqdv dnykqikqdl dqlrsiveks elwvykgqgp
     1141 detmdgasge nehkkteegn nkpqkhests synyrvvkei lirlsklcvq esasvrksrk
     1201 qqqrllrnmg ahavvlellq ipyekaedtk mqeimrlahe flqnfcagnq qnqallhkhi
     1261 nlflnpgile avtmqhifmn nfqlcseine rvvqhfvhci ethgrnvqyi kflqtivkae
     1321 gkfikkcqdm vmaelvnsge dvlvfyndra sfqtliqmmr serdrmdens plmyhihlve
     1381 llavctegkn vyteikcnsl lplddivrvv thedcipevk iayinflnhc yvdtevemke
     1441 iytsnhmwkl fenflvdicr acnntsdrkh adsilekyvt eivmsivttf fsspfsdqst
     1501 tlqtrqpvfv qllqgvfrvy hcnwlmpsqk asvescirvl sdvaksraia ipvdldsqvn
     1561 nlflkshsiv qktamnwrls arnaarrdsv laasrdyrni ierlqdivsa ledrlrplvq
     1621 aelsvlvdvl hrpellfpen tdarrkcesg gficklikht kqlleeneek lcikvlqtlr
     1681 emmtkdrgyg ekgealrqvl vnryygnvrp sgrresltsf gngplsaggp gkpggggggs
     1741 gsssmsrgem slaevqchld kegasnlvid limnassdrv fhesillaia lleggnttiq
     1801 hsffcrlted kksekffkvf ydrmkvaqqe ikatvtvnts dlgnkkkdde vdrdapsrkk
     1861 akepttqite evrdqlleas aatrkafttf rreadpddhy qpgegtqata dkakddlems
     1921 avitimqpil rflqllcenh nrdlqnflrc qnnktnynlv cetlqfldci cgsttgglgl
     1981 lglyineknv alinqtlesl teycqgpche nqnciathes ngidiitali lndinplgkk
     2041 rmdlvlelkn nasklllaim esrhdsenae rilynmrpke lvevikkaym qgevefedge
     2101 ngedgaaspr nvghniyila hqlarhnkel qsmlkpggqv dgdealefya khtaqieivr
     2161 ldrtmeqivf pvpsiceflt kesklriyyt terdeqgski ndfflrsedl fnemnwqkkl
     2221 raqpvlywca rnmsfwssis fnlavlmnll vaffypfkgv rggtlephws gllwtamlis
     2281 laivialpkp hgiraliast ilrlifsvgl qptlfllgaf nvcnkiiflm sfvgncgtft
     2341 rgyramvldv eflyhllylv icamglfvhe ffyslllfdl vyreetllnv iksvtrngrs
     2401 iiltavlali lvylfsivgy lffkddfile vdrlpnetav petgeslase flfsdvcrve
     2461 sgencsspap reelvpaeet eqdkehtcet llmcivtvls hglrsgggvg dvlrkpskee
     2521 plfaarviyd llfffmviii vlnlifgvii dtfadlrsek qkkeeilktt cficglerdk
     2581 fdnktvtfee hikeehnmwh ylcfivlvkv kdsteytgpe syvaemiker nldwfprmra
     2641 mslvssdseg eqnelrnlqe klestmklvt nlsgqlselk dqmteqrkqk qrigllghpp
     2701 hmnvnpqqpa
//
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