GenomeNet

Database: RefSeq
Entry: NP_002213
LinkDB: NP_002213
Original site: NP_002213 
LOCUS       NP_002213               2695 aa            linear   PRI 30-APR-2025
DEFINITION  inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform 2
            [Homo sapiens].
ACCESSION   NP_002213
VERSION     NP_002213.5
DBSOURCE    REFSEQ: accession NM_002222.7
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   Lei,Z., Niu,J., Cai,H., Kong,Z., Ding,X., Dong,Y., Zhang,D., Li,X.,
            Shao,J., Lin,A., Zhou,R., Yang,S. and Yan,Q.
  TITLE     NF2 regulates IP3R-mediated Ca2+ signal and apoptosis in
            meningiomas
  JOURNAL   FASEB J 38 (13), e23737 (2024)
   PUBMED   38953724
  REMARK    GeneRIF: NF2 regulates IP3R-mediated Ca[2+] signal and apoptosis in
            meningiomas.
REFERENCE   2  (residues 1 to 2695)
  AUTHORS   Atakpa-Adaji,P., Ivanova,A., Kujawa,K. and Taylor,C.W.
  TITLE     KRAP regulates mitochondrial Ca2+ uptake by licensing IP3 receptor
            activity and stabilizing ER-mitochondrial junctions
  JOURNAL   J Cell Sci 137 (12) (2024)
   PUBMED   38786982
  REMARK    GeneRIF: KRAP regulates mitochondrial Ca2+ uptake by licensing IP3
            receptor activity and stabilizing ER-mitochondrial junctions.
REFERENCE   3  (residues 1 to 2695)
  AUTHORS   Sanli,F., Tatar,A., Gundogdu,B. and Karatas,O.F.
  TITLE     IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes to taxol
            resistance in head and neck cancer
  JOURNAL   Eur J Pharmacol 973, 176592 (2024)
   PUBMED   38642666
  REMARK    GeneRIF: IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes
            to taxol resistance in head and neck cancer.
REFERENCE   4  (residues 1 to 2695)
  AUTHORS   Maleki,B., Modarres,P., Salehi,P. and Vallian,S.
  TITLE     Identification of ITPR1 gene as a novel target for hsa-miR-34b-5p
            in non-obstructive azoospermia: a Ca2+/apoptosis pathway cross-talk
  JOURNAL   Sci Rep 13 (1), 21873 (2023)
   PUBMED   38072953
  REMARK    GeneRIF: Identification of ITPR1 gene as a novel target for
            hsa-miR-34b-5p in non-obstructive azoospermia: a Ca[2+]/apoptosis
            pathway cross-talk.
            Erratum:[Sci Rep. 2024 Feb 14;14(1):3722. doi:
            10.1038/s41598-024-53786-7. PMID: 38355618]
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2695)
  AUTHORS   Kirkwood,K.L., Homick,K., Dragon,M.B. and Bradford,P.G.
  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,S.K., Lin,C., Pierson,S., Thomas,A.P. and Maranto,A.R.
  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,F.C. Jr., Li,S.H., Danoff,S., Ullrich,A. and Ross,C.A.
  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 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301536
REFERENCE   9  (residues 1 to 2695)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (residues 1 to 2695)
  AUTHORS   Mahaut-Smith,M.P., Sage,S.O. and Rink,T.J.
  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 and AC018816.6.
            
            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-gated calcium
                     channel ITPR1 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; inositol 1,4,5 trisphosphate
                     receptor; inositol 1,4,5-trisphosphate-gated calcium
                     channel ITPR1"
                     /calculated_mol_wt=306644
     Region          5..229
                     /region_name="Ins145_P3_rec"
                     /note="Inositol 1,4,5-trisphosphate/ryanodine receptor;
                     pfam08709"
                     /db_xref="CDD:462572"
     Region          224..430
                     /region_name="beta-trefoil_MIR_ITPR1"
                     /note="MIR domain, beta-trefoil fold, found in inositol
                     1,4,5-trisphosphate receptor type 1 (ITPR1) and similar
                     proteins; cd23287"
                     /db_xref="CDD:467758"
     Site            order(245..246,300,359,361,372,378,410..411)
                     /site_type="other"
                     /note="homotetramer interface [polypeptide binding]"
                     /db_xref="CDD:467758"
     Site            order(265,267..269,275)
                     /site_type="other"
                     /note="ligand binding site [chemical binding]"
                     /db_xref="CDD:467758"
     Region          461..655
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:460175"
     Region          1179..1298
                     /region_name="RYDR_ITPR"
                     /note="RIH domain; pfam01365"
                     /db_xref="CDD:460175"
     Region          1908..2015
                     /region_name="RIH_assoc"
                     /note="RyR and IP3R Homology associated; pfam08454"
                     /db_xref="CDD:462482"
     Region          2296..2546
                     /region_name="Ion_trans"
                     /note="Ion transport protein; pfam00520"
                     /db_xref="CDD:459842"
     CDS             1..2695
                     /gene="ITPR1"
                     /gene_synonym="ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94;
                     SCA15; SCA16; SCA29"
                     /coded_by="NM_002222.7:351..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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