Gene Page: ITPR1

Summary ?
GeneID3708
SymbolITPR1
SynonymsACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29
Descriptioninositol 1,4,5-trisphosphate receptor type 1
ReferenceMIM:147265|HGNC:HGNC:6180|Ensembl:ENSG00000150995|HPRD:00925|Vega:OTTHUMG00000154996
Gene typeprotein-coding
Map location3p26.1
Pascal p-value0.081
Sherlock p-value0.669
TADA p-value0.032
Fetal beta-1.681
DMG1 (# studies)
SupportG2Cdb.human_mGluR5
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
ITPR1chr34715041CTNM_001099952
NM_001168272
NM_002222		p.809S>L
p.794S>L
p.794S>L		missense
missense
missense		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg2637967234534954ITPR14.96E-10-0.0138.58E-7DMG:Jaffe_2016


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AHCYL1DCAL | IRBIT | PRO0233 | XPVKONAS-adenosylhomocysteine hydrolase-like 1-HPRD,BioGRID12525476 
BANK1BANK | FLJ20706 | FLJ34204B-cell scaffold protein with ankyrin repeats 1-HPRD,BioGRID11782428 
BCL2Bcl-2B-cell CLL/lymphoma 2Affinity Capture-WesternBioGRID15613488 
CA8CA-VIII | CALS | CARP | MGC120502 | MGC99509carbonic anhydrase VIII-HPRD,BioGRID12611586 
CABP1CALBRAIN | HCALB_BRcalcium binding protein 1Affinity Capture-Western
in vitro
in vivo
Reconstituted Complex		BioGRID12032348 |14685260 
EPB41L14.1N | DKFZp686H17242 | KIAA0338 | MGC11072erythrocyte membrane protein band 4.1-like 1-HPRD,BioGRID12444087 |12676536 
FKBP1AFKBP-12 | FKBP1 | FKBP12 | FKBP12C | PKC12 | PKCI2 | PPIASEFK506 binding protein 1A, 12kDa-HPRD,BioGRID9346894 
GRM1GPRC1A | GRM1A | MGLUR1 | MGLUR1A | mGlu1glutamate receptor, metabotropic 1-HPRD,BioGRID9808459 
HOMER1HOMER | HOMER1A | HOMER1B | HOMER1C | SYN47 | Ves-1homer homolog 1 (Drosophila)-HPRD,BioGRID9808459 
HOMER2ACPD | CPD | HOMER-2 | HOMER2A | HOMER2B | Vesl-2homer homolog 2 (Drosophila)-HPRD,BioGRID9808459 
HOMER3HOMER-3homer homolog 3 (Drosophila)in vitro
in vivo		BioGRID9808459 
ITPR3FLJ36205 | IP3R | IP3R3inositol 1,4,5-triphosphate receptor, type 3in vivoBioGRID7559486 
MRVI1IRAG | JAW1Lmurine retrovirus integration site 1 homolog-HPRD,BioGRID10724174 
PRKG1CGKI | DKFZp686K042 | FLJ36117 | MGC71944 | PGK | PKG | PRKG1B | PRKGR1B | cGKI-BETA | cGKI-alphaprotein kinase, cGMP-dependent, type IAffinity Capture-Western
Biochemical Activity		BioGRID10724174 
RHOAARH12 | ARHA | RHO12 | RHOH12ras homolog gene family, member AAffinity Capture-Western
Reconstituted Complex		BioGRID12766172 
SDC2HSPG | HSPG1 | SYND2syndecan 2Affinity Capture-WesternBioGRID12676536 
STARD13DLC2 | FLJ37385 | GT650StAR-related lipid transfer (START) domain containing 13STARD13 (RhoGAP) interacts with ITPR1.BIND14697242 
STARD13DLC2 | FLJ37385 | GT650StAR-related lipid transfer (START) domain containing 13Two-hybridBioGRID14697242 
TRPC1HTRP-1 | MGC133334 | MGC133335 | TRP1transient receptor potential cation channel, subfamily C, member 1Affinity Capture-WesternBioGRID14505576 
TRPC2-transient receptor potential cation channel, subfamily C, member 2 (pseudogene)Affinity Capture-WesternBioGRID14505576 
TRPC3TRP3transient receptor potential cation channel, subfamily C, member 3Affinity Capture-WesternBioGRID14505576 
TRPC4HTRP4 | MGC119570 | MGC119571 | MGC119572 | MGC119573 | TRP4transient receptor potential cation channel, subfamily C, member 4Affinity Capture-Western
Two-hybrid		BioGRID11163362 |14505576 
TRPC5TRP5transient receptor potential cation channel, subfamily C, member 5Affinity Capture-WesternBioGRID14505576 
TRPC6FLJ11098 | FLJ14863 | FSGS2 | TRP6transient receptor potential cation channel, subfamily C, member 6Affinity Capture-WesternBioGRID14505576 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CALCIUM SIGNALING PATHWAY 178134All SZGR 2.0 genes in this pathway
KEGG PHOSPHATIDYLINOSITOL SIGNALING SYSTEM 7656All SZGR 2.0 genes in this pathway
KEGG OOCYTE MEIOSIS 11479All SZGR 2.0 genes in this pathway
KEGG VASCULAR SMOOTH MUSCLE CONTRACTION 11581All SZGR 2.0 genes in this pathway
KEGG GAP JUNCTION 9068All SZGR 2.0 genes in this pathway
KEGG LONG TERM POTENTIATION 7057All SZGR 2.0 genes in this pathway
KEGG LONG TERM DEPRESSION 7053All SZGR 2.0 genes in this pathway
KEGG GNRH SIGNALING PATHWAY 10177All SZGR 2.0 genes in this pathway
KEGG ALZHEIMERS DISEASE 169110All SZGR 2.0 genes in this pathway
KEGG HUNTINGTONS DISEASE 185109All SZGR 2.0 genes in this pathway
ST WNT CA2 CYCLIC GMP PATHWAY 2014All SZGR 2.0 genes in this pathway
ST G ALPHA I PATHWAY 3529All SZGR 2.0 genes in this pathway
SIG CHEMOTAXIS 4537All SZGR 2.0 genes in this pathway
ST ADRENERGIC 3629All SZGR 2.0 genes in this pathway
ST GAQ PATHWAY 2822All SZGR 2.0 genes in this pathway
SIG PIP3 SIGNALING IN B LYMPHOCYTES 3631All SZGR 2.0 genes in this pathway
SIG BCR SIGNALING PATHWAY 4638All SZGR 2.0 genes in this pathway
ST MYOCYTE AD PATHWAY 2725All SZGR 2.0 genes in this pathway
ZHONG RESPONSE TO AZACITIDINE AND TSA UP 183119All SZGR 2.0 genes in this pathway
DAVICIONI TARGETS OF PAX FOXO1 FUSIONS DN 6849All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
HOOI ST7 TARGETS DN 12378All SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN DN 241146All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS UP 306188All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS UP 457269All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA UP 171112All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG UP 13085All SZGR 2.0 genes in this pathway
ELVIDGE HIF1A AND HIF2A TARGETS DN 10472All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537339All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES SKIN UP 177113All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232154All SZGR 2.0 genes in this pathway
CHEBOTAEV GR TARGETS UP 7762All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 UP 329196All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER DN 185115All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW DN 165107All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180110All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA DN 181107All SZGR 2.0 genes in this pathway
LUI THYROID CANCER CLUSTER 2 4231All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
TSUNODA CISPLATIN RESISTANCE DN 5138All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE DN 165104All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU DN 8369All SZGR 2.0 genes in this pathway
CHESLER BRAIN D6MIT150 QTL CIS 76All SZGR 2.0 genes in this pathway
BASSO B LYMPHOCYTE NETWORK 14396All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS B LYMPHOCYTE DN 3825All SZGR 2.0 genes in this pathway
JECHLINGER EPITHELIAL TO MESENCHYMAL TRANSITION DN 6647All SZGR 2.0 genes in this pathway
LEE LIVER CANCER E2F1 DN 6442All SZGR 2.0 genes in this pathway
ROSS AML WITH AML1 ETO FUSION 7655All SZGR 2.0 genes in this pathway
LENAOUR DENDRITIC CELL MATURATION DN 12890All SZGR 2.0 genes in this pathway
HADDAD B LYMPHOCYTE PROGENITOR 293193All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN 5032All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD DN 15093All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR UP 180125All SZGR 2.0 genes in this pathway
MA PITUITARY FETAL VS ADULT DN 1917All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP 244151All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN 13588All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 10HR UP 10169All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN 287208All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
JIANG AGING HYPOTHALAMUS UP 4731All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP 953554All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP 783442All SZGR 2.0 genes in this pathway
LEIN LOCALIZED TO DISTAL AND PROXIMAL DENDRITES 1712All SZGR 2.0 genes in this pathway
FUJII YBX1 TARGETS DN 202132All SZGR 2.0 genes in this pathway
SMID BREAST CANCER RELAPSE IN BRAIN DN 8558All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS 425261All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN 366257All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 DN 315201All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF UP 418282All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 UP 408276All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN 442275All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER DN 13483All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP 8363All SZGR 2.0 genes in this pathway
GUTIERREZ WALDENSTROEMS MACROGLOBULINEMIA 1 UP 95All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS UP 221135All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS UP 9159All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN UP 9058All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 M 216124All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP 548370All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN 321200All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462273All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS UP 279155All SZGR 2.0 genes in this pathway
DURAND STROMA NS UP 162103All SZGR 2.0 genes in this pathway
CHEMELLO SOLEUS VS EDL MYOFIBERS DN 1910All SZGR 2.0 genes in this pathway