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
//
