Gene table of ITPR1 : inositol 1,4,5-trisphosphate receptor type 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with ITPR1OMIM linkNumber of associated genesgenes
PS164400SPINOCEREBELLAR ATAXIAClinVar, OMIM, HUMSAVAR link to OMIM 31ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2

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Annotation of the gene ITPR1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Platelet activationhsa046115.66
cGMP-PKG signaling pathwayhsa040225.32
Calcium signaling pathwayhsa040205.22
Long-term potentiationhsa047206.64
Retrograde endocannabinoid signalinghsa047236.03
Cholinergic synapsehsa047255.88
Glutamatergic synapsehsa047245.84
Serotonergic synapsehsa047265.84
Dopaminergic synapsehsa047285.69
Oxytocin signaling pathwayhsa049215.4
Vascular smooth muscle contractionhsa042705.74
Gap junctionhsa045406.24
Proteoglycans in cancerhsa052055.02
Oocyte meiosishsa041145.91
GnRH signaling pathwayhsa049126.18
Phosphatidylinositol signaling systemhsa040706.38
Inflammatory mediator regulation of TRP channelshsa047506.07
Estrogen signaling pathwayhsa049156.11
Thyroid hormone synthesishsa049186.56
Circadian entrainmenthsa047136.11
Long-term depressionhsa047306.74
Salivary secretionhsa049706.23
Gastric acid secretionhsa049716.48
Pancreatic secretionhsa049726.07
Huntington's diseasehsa050165.17
Alzheimer's diseasehsa050105.34
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Phospholipase C-mediated cascade; FGFR2R-HSA-56542217.37
cGMP effectsR-HSA-4184578.81
PLCG1 events in ERBB2 signalingR-HSA-12519327.85
DAG and IP3 signalingR-HSA-14895097.98
Phospholipase C-mediated cascade; FGFR3R-HSA-56542277.52
Role of phospholipids in phagocytosisR-HSA-20294855.47
Phospholipase C-mediated cascade; FGFR4R-HSA-56542287.46
Immune SystemR-HSA-1682562.37
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.62
EGFR interacts with phospholipase C-gammaR-HSA-2127187.89
MetabolismR-HSA-14307282.34
Downstream signal transductionR-HSA-1867634.65
Adaptive Immune SystemR-HSA-12802183.19
Downstream signaling of activated FGFR1R-HSA-56546874.71
Signalling by NGFR-HSA-1665204.23
Phospholipase C-mediated cascade: FGFR1R-HSA-56542197.43
Signaling by VEGFR-HSA-1941384.66
Platelet activation, signaling and aggregationR-HSA-760025.15
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.26
Platelet calcium homeostasisR-HSA-4183608.73
Effects of PIP2 hydrolysisR-HSA-1145088.34
Ca2+ pathwayR-HSA-40863987.1
Platelet homeostasisR-HSA-4183466.68
Elevation of cytosolic Ca2+ levelsR-HSA-1398539.81
Signaling by GPCRR-HSA-3727902.68
Downstream signaling of activated FGFR3R-HSA-56547084.71
Signaling by FGFR4R-HSA-56547434.69
Signaling by FGFR3R-HSA-56547414.69
C-type lectin receptors (CLRs)R-HSA-56214816.06
VEGFA-VEGFR2 PathwayR-HSA-44200974.7
Fcgamma receptor (FCGR) dependent phagocytosisR-HSA-20294805.07
Signaling by FGFRR-HSA-1902364.67
Nitric oxide stimulates guanylate cyclaseR-HSA-3921548.34
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.03
GPCR downstream signalingR-HSA-3883963.07
beta-catenin independent WNT signalingR-HSA-38584945.83
Innate Immune SystemR-HSA-1682493.17
Integration of energy metabolismR-HSA-1636856.24
FCERI mediated Ca+2 mobilizationR-HSA-28718095.45
Signaling by ERBB2R-HSA-12279864.66
CLEC7A (Dectin-1) induces NFAT activationR-HSA-56077639.52
CLEC7A (Dectin-1) signalingR-HSA-56077646.38
DAP12 signalingR-HSA-24244914.64
Downstream signaling of activated FGFR2R-HSA-56546964.71
Signaling by EGFRR-HSA-1779294.59
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.51
PLC-gamma1 signallingR-HSA-1670217.89
Antigen activates B Cell Receptor (BCR) leading to generation of second messengersR-HSA-9836955.6
Signaling by WntR-HSA-1957214.79
Regulation of insulin secretionR-HSA-4223566.66
PLC beta mediated eventsR-HSA-1120437.52
G-protein mediated eventsR-HSA-1120407.49
Signaling by FGFR2R-HSA-56547384.68
Signaling by FGFR1R-HSA-56547364.69
Opioid SignallingR-HSA-1118856.64
G alpha (q) signalling eventsR-HSA-4164765.42
DAP12 interactionsR-HSA-21721274.56
Downstream signaling of activated FGFR4R-HSA-56547164.71
Signaling by PDGFR-HSA-1867974.53
VEGFR2 mediated cell proliferationR-HSA-52189215.07
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Glucagon-like Peptide-1 (GLP1) regulates insulin secretionR-HSA-3816767.59
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
calcium channel activityGO:00052625.03
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activityGO:00052208.64
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
cation channel activityGO:00052614.04
molecular function regulatorGO:00987722.51
calcium ion transmembrane transporter activityGO:00150854.89
calcium-release channel activityGO:00152786.97
calcium channel inhibitor activityGO:00198557.54
phospholipid bindingGO:00055433.91
ligand-gated ion channel activityGO:00152764.8
divalent inorganic cation transmembrane transporter activityGO:00725094.62
transmembrane transporter activityGO:00228572.82
channel inhibitor activityGO:00162486.13
channel regulator activityGO:00162474.88
passive transmembrane transporter activityGO:00228033.6
metal ion transmembrane transporter activityGO:00468733.71
intracellular ligand-gated ion channel activityGO:00052176.41
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
lipid bindingGO:00082893.26
ion channel inhibitor activityGO:00082006.15
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific transporter activityGO:00228922.72
phosphatidylinositol bindingGO:00350914.47
ion transmembrane transporter activityGO:00150753.04
transmembrane signaling receptor activityGO:00048882.57
channel activityGO:00152673.6
gated channel activityGO:00228363.96
protein bindingGO:00055150.46
ligand-gated channel activityGO:00228344.8
calcium channel regulator activityGO:00052466.15
ligand-gated calcium channel activityGO:00996046.97
substrate-specific channel activityGO:00228383.67
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32