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
//
