Property Summary

NCBI Gene PubMed Count 149
Grant Count 390
R01 Count 267
Funding $55,694,479.48
PubMed Score 534.13
PubTator Score 210.14

Knowledge Summary

Patent (6,623)

Expression

  Differential Expression (26)

Disease log2 FC p
Waldenstrons macroglobulinemia -2.037 0.003
malignant mesothelioma -2.200 0.000
astrocytic glioma -3.000 0.004
ependymoma -2.600 0.026
oligodendroglioma -2.600 0.000
psoriasis -1.600 0.000
glioblastoma -3.400 0.000
group 4 medulloblastoma -4.900 0.000
cystic fibrosis 1.710 0.000
atypical teratoid / rhabdoid tumor -4.200 0.000
medulloblastoma, large-cell -5.200 0.000
primitive neuroectodermal tumor -3.900 0.000
intraductal papillary-mucinous carcinoma... -2.000 0.003
intraductal papillary-mucinous neoplasm ... -1.300 0.016
lung cancer -2.100 0.000
colon cancer -1.200 0.024
pediatric high grade glioma -2.700 0.000
pilocytic astrocytoma -2.400 0.000
subependymal giant cell astrocytoma -2.223 0.042
lung adenocarcinoma -1.200 0.000
Breast cancer -1.900 0.000
lung carcinoma -1.600 0.000
spina bifida -1.629 0.044
Pick disease -1.300 0.033
ulcerative colitis 1.800 0.000
ovarian cancer -2.200 0.000

Synonym

Accession Q14643 E7EPX7 E9PDE9 Q14660 Q99897
Symbols ACV
CLA4
IP3R
IP3R1
SCA15
SCA16
SCA29
INSP3R1
PPP1R94

Gene

Gene RIF (90)

PMID Text
27039371 SNPs in ITPR1 and CNTN4 are involved in the regulation of serum uric acid concentrations in Mexican Americans
26616647 concluded that the HERPUD1-mediated cytoprotective effect against oxidative stress depends on the ITPR and Ca(2+) transfer from the endoplasmic reticulum to mitochondria
26255430 IT plays an essential role in the development of drug dependence.
26009177 the ability to generate tetramers with defined wild type and mutant subunits will be useful in probing fundamental questions relating to IP3Rs (R1, R2, R3) structure and function.
25981959 we identified two in our cohort with a diagnosis of ataxic cerebral palsy who were found to have a de novo mutation in ITPR1
25966694 Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR).
25794864 ITPR1 missense mutations cause infantile-onset cerebellar ataxia.
25740420 hyperphosphorylation contributes to prostate cancer cell resistance to androgen deprivation
25498830 ITPR1 has a role in the pathogenesis of autoimmune cerebellitis in cerebellar ataxia.
25468730 Ca(2+) release mediated by IP3R1 is an essential mechanism during the early steps of myoblast differentiation.
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AA Sequence

MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQK      1 - 70
QFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPA     71 - 140
LLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVN    141 - 210
SVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKA    211 - 280
LWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEK    281 - 350
MVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGT    351 - 420
SPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNS    421 - 490
GQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQAPFTDCGDGPMLRLEELGDQRHAPFRHICRLCYRVL    491 - 560
RHSQQDYRKNQEYIAKQFGFMQKQIGYDVLAEDTITALLHNNRKLLEKHITAAEIDTFVSLVRKNREPRF    561 - 630
LDYLSDLCVSMNKSIPVTQELICKAVLNPTNADILIETKLVLSRFEFEGVSSTGENALEAGEDEEEVWLF    631 - 700
WRDSNKEIRSKSVRELAQDAKEGQKEDRDVLSYYRYQLNLFARMCLDRQYLAINEISGQLDVDLILRCMS    701 - 770
DENLPYDLRASFCRLMLHMHVDRDPQEQVTPVKYARLWSEIPSEIAIDDYDSSGASKDEIKERFAQTMEF    771 - 840
VEEYLRDVVCQRFPFSDKEKNKLTFEVVNLARNLIYFGFYNFSDLLRLTKILLAILDCVHVTTIFPISKM    841 - 910
AKGEENKGNNDVEKLKSSNVMRSIHGVGELMTQVVLRGGGFLPMTPMAAAPEGNVKQAEPEKEDIMVMDT    911 - 980
KLKIIEILQFILNVRLDYRISCLLCIFKREFDESNSQTSETSSGNSSQEGPSNVPGALDFEHIEEQAEGI    981 - 1050
FGGSEENTPLDLDDHGGRTFLRVLLHLTMHDYPPLVSGALQLLFRHFSQRQEVLQAFKQVQLLVTSQDVD   1051 - 1120
NYKQIKQDLDQLRSIVEKSELWVYKGQGPDETMDGASGENEHKKTEEGNNKPQKHESTSSYNYRVVKEIL   1121 - 1190
IRLSKLCVQESASVRKSRKQQQRLLRNMGAHAVVLELLQIPYEKAEDTKMQEIMRLAHEFLQNFCAGNQQ   1191 - 1260
NQALLHKHINLFLNPGILEAVTMQHIFMNNFQLCSEINERVVQHFVHCIETHGRNVQYIKFLQTIVKAEG   1261 - 1330
KFIKKCQDMVMAELVNSGEDVLVFYNDRASFQTLIQMMRSERDRMDENSPLMYHIHLVELLAVCTEGKNV   1331 - 1400
YTEIKCNSLLPLDDIVRVVTHEDCIPEVKIAYINFLNHCYVDTEVEMKEIYTSNHMWKLFENFLVDICRA   1401 - 1470
CNNTSDRKHADSILEKYVTEIVMSIVTTFFSSPFSDQSTTLQTRQPVFVQLLQGVFRVYHCNWLMPSQKA   1471 - 1540
SVESCIRVLSDVAKSRAIAIPVDLDSQVNNLFLKSHSIVQKTAMNWRLSARNAARRDSVLAASRDYRNII   1541 - 1610
ERLQDIVSALEDRLRPLVQAELSVLVDVLHRPELLFPENTDARRKCESGGFICKLIKHTKQLLEENEEKL   1611 - 1680
CIKVLQTLREMMTKDRGYGEKLISIDELDNAELPPAPDSENATEELEPSPPLRQLEDHKRGEALRQVLVN   1681 - 1750
RYYGNVRPSGRRESLTSFGNGPLSAGGPGKPGGGGGGSGSSSMSRGEMSLAEVQCHLDKEGASNLVIDLI   1751 - 1820
MNASSDRVFHESILLAIALLEGGNTTIQHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDL   1821 - 1890
GNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADK   1891 - 1960
AKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLG   1961 - 2030
LYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNA   2031 - 2100
SKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQ   2101 - 2170
LARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTE   2171 - 2240
RDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRG   2241 - 2310
GTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSF   2311 - 2380
VGNCGTFTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSII   2381 - 2450
LTAVLALILVYLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPRE   2451 - 2520
ELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVL   2521 - 2590
NLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKD   2591 - 2660
STEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNLSGQLSELKDQ   2661 - 2730
MTEQRKQKQRIGLLGHPPHMNVNPQQPA                                             2731 - 2758
//

Text Mined References (155)

PMID Year Title
27039371 2016 GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans.
26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
26616647 2016 HERPUD1 protects against oxidative stress-induced apoptosis through downregulation of the inositol 1,4,5-trisphosphate receptor.
26255430 2015 [Role of intracellular Ca2+ dynamics in the development of drug dependence--Participation of Inositol 1,4,5-trisphosphate receptors].
26009177 2015 Using concatenated subunits to investigate the functional consequences of heterotetrameric inositol 1,4,5-trisphosphate receptors.
25981959 2015 De novo point mutations in patients diagnosed with ataxic cerebral palsy.
25966694 2015 Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.
25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
25740420 2015 Endoplasmic reticulum Ca(2+) content decrease by PKA-dependent hyperphosphorylation of type 1 IP3 receptor contributes to prostate cancer cell resistance to androgen deprivation.
25498830 2014 Antibodies to the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) in cerebellar ataxia.
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