Human Gene ITPR3 (ENST00000374316.9) from GENCODE V44
  Description: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. (from UniProt Q14573)
RefSeq Summary (NM_002224): This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010].
Gencode Transcript: ENST00000374316.9
Gencode Gene: ENSG00000096433.11
Transcript (Including UTRs)
   Position: hg38 chr6:33,620,365-33,696,574 Size: 76,210 Total Exon Count: 59 Strand: +
Coding Region
   Position: hg38 chr6:33,621,603-33,695,780 Size: 74,178 Coding Exon Count: 58 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:33,620,365-33,696,574)mRNA (may differ from genome)Protein (2671 aa)
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LynxMalacardsMGIneXtProtPubMedReactome
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ITPR3_HUMAN
DESCRIPTION: RecName: Full=Inositol 1,4,5-trisphosphate receptor type 3; AltName: Full=IP3 receptor isoform 3; Short=IP3R 3; Short=InsP3R3; AltName: Full=Type 3 inositol 1,4,5-trisphosphate receptor; Short=Type 3 InsP3 receptor;
FUNCTION: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.
SUBUNIT: Homotetramer. Interacts with SIGMAR1, PML, AKT1, TRPC1, TRPC3 and TRPC4 (By similarity). Interacts with CABP1. Interacts with TMBIM4/LFG4.
INTERACTION: Q13507:TRPC3; NbExp=5; IntAct=EBI-351055, EBI-520807;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in intestinal crypt and villus epithelial cells.
DOMAIN: The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand- binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region.
PTM: Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity).
SIMILARITY: Belongs to the InsP3 receptor family.
SIMILARITY: Contains 5 MIR domains.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: ITPR3
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent* (18), peritoneum cancer (11), coronary artery aneurysm (5), wolfram syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.28 RPKM in Thyroid
Total median expression: 679.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -531.601060-0.502 Picture PostScript Text
3' UTR -272.80794-0.344 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000699 - Ca-rel_channel
IPR014821 - Ins145_P3_rcpt
IPR000493 - InsP3_rcpt-bd
IPR005821 - Ion_trans_dom
IPR016093 - MIR_motif
IPR013662 - RIH_assoc-dom
IPR015925 - Ryanodine_recept-rel

Pfam Domains:
PF08709 - Inositol 1,4,5-trisphosphate/ryanodine receptor
PF00520 - Ion transport protein
PF02815 - MIR domain
PF08454 - RyR and IP3R Homology associated
PF01365 - RIH domain

ModBase Predicted Comparative 3D Structure on Q14573
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000822 inositol hexakisphosphate binding
GO:0005216 ion channel activity
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0005262 calcium channel activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0015278 calcium-release channel activity
GO:0035091 phosphatidylinositol binding
GO:0043533 inositol 1,3,4,5 tetrakisphosphate binding
GO:0070679 inositol 1,4,5 trisphosphate binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007613 memory
GO:0030168 platelet activation
GO:0048016 inositol phosphate-mediated signaling
GO:0050796 regulation of insulin secretion
GO:0050913 sensory perception of bitter taste
GO:0050916 sensory perception of sweet taste
GO:0050917 sensory perception of umami taste
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051260 protein homooligomerization
GO:0051291 protein heterooligomerization
GO:0051592 response to calcium ion
GO:0055085 transmembrane transport
GO:0060291 long-term synaptic potentiation
GO:0060402 calcium ion transport into cytosol
GO:0070588 calcium ion transmembrane transport
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0005634 nucleus
GO:0005640 nuclear outer membrane
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005903 brush border
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031095 platelet dense tubular network membrane
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0043235 receptor complex
GO:0045177 apical part of cell


-  Descriptions from all associated GenBank mRNAs
  D26351 - Homo sapiens mRNA for type 3 inositol 1,4,5-trisphosphate receptor, complete cds.
U01062 - Human type 3 inositol 1,4,5-trisphosphate receptor (ITPR3) mRNA, complete cds.
BC172406 - Synthetic construct Homo sapiens clone IMAGE:100069100, MGC:199111 inositol 1,4,5-triphosphate receptor, type 3 (ITPR3) mRNA, encodes complete protein.
AB209739 - Homo sapiens mRNA for Inositol 1,4,5-trisphosphate receptor type 3 variant protein.
BC041398 - Homo sapiens cDNA clone IMAGE:5277696.
JD196312 - Sequence 177336 from Patent EP1572962.
JD292882 - Sequence 273906 from Patent EP1572962.
BC146646 - Homo sapiens inositol 1,4,5-triphosphate receptor, type 3, mRNA (cDNA clone IMAGE:40147135), partial cds.
AL832807 - Homo sapiens mRNA; cDNA DKFZp667O0323 (from clone DKFZp667O0323).
AK093524 - Homo sapiens cDNA FLJ36205 fis, clone TESTI2028659, highly similar to Human type 3 inositol 1,4,5-trisphosphate receptor (ITPR3) mRNA.
AX748184 - Sequence 1709 from Patent EP1308459.
JD389471 - Sequence 370495 from Patent EP1572962.
JD371960 - Sequence 352984 from Patent EP1572962.
JD159146 - Sequence 140170 from Patent EP1572962.
JD424389 - Sequence 405413 from Patent EP1572962.
JD428773 - Sequence 409797 from Patent EP1572962.
JD475465 - Sequence 456489 from Patent EP1572962.
JD553653 - Sequence 534677 from Patent EP1572962.
JD192659 - Sequence 173683 from Patent EP1572962.
JD543912 - Sequence 524936 from Patent EP1572962.
JD535614 - Sequence 516638 from Patent EP1572962.
JD149713 - Sequence 130737 from Patent EP1572962.
JD221479 - Sequence 202503 from Patent EP1572962.
JD056913 - Sequence 37937 from Patent EP1572962.
JD271620 - Sequence 252644 from Patent EP1572962.
JD118138 - Sequence 99162 from Patent EP1572962.
JD399763 - Sequence 380787 from Patent EP1572962.
JD184991 - Sequence 166015 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway
hsa04070 - Phosphatidylinositol signaling system
hsa04114 - Oocyte meiosis
hsa04270 - Vascular smooth muscle contraction
hsa04540 - Gap junction
hsa04720 - Long-term potentiation
hsa04730 - Long-term depression
hsa04742 - Taste transduction
hsa04912 - GnRH signaling pathway
hsa05010 - Alzheimer's disease

Reactome (by CSHL, EBI, and GO)

Protein Q14573 (Reactome details) participates in the following event(s):

R-HSA-169680 IP3 binds to the IP3 receptor, opening the endoplasmic reticulum Ca2+ channel
R-HSA-139941 Binding of IP3 to IP3 receptor
R-HSA-5226904 AHCYL1:NAD+ binds ITPR1:I(1,3,5)P3 tetramer, inhibiting it
R-HSA-169683 IP3R:I(1,4,5)P3 tetramer transports Ca2+ from ER lumen to cytosol
R-HSA-1168376 STIM1 oligomerizes
R-HSA-4420052 Decreasing cGMP concentration promotes intracellular Ca2+ release in response to WNT
R-HSA-139854 IP3R tetramer:I(1,4,5)P3:4xCa2+ transports Ca2+ from platelet dense tubular system to cytosol
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-112043 PLC beta mediated events
R-HSA-422356 Regulation of insulin secretion
R-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
R-HSA-1489509 DAG and IP3 signaling
R-HSA-2029485 Role of phospholipids in phagocytosis
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-4086398 Ca2+ pathway
R-HSA-5218921 VEGFR2 mediated cell proliferation
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-5578775 Ion homeostasis
R-HSA-112040 G-protein mediated events
R-HSA-163685 Energy Metabolism
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-416476 G alpha (q) signalling events
R-HSA-5576891 Cardiac conduction
R-HSA-111885 Opioid Signalling
R-HSA-1430728 Metabolism
R-HSA-1280218 Adaptive Immune System
R-HSA-162582 Signal Transduction
R-HSA-168249 Innate Immune System
R-HSA-195721 Signaling by WNT
R-HSA-194138 Signaling by VEGF
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-109582 Hemostasis
R-HSA-388396 GPCR downstream signalling
R-HSA-397014 Muscle contraction
R-HSA-418594 G alpha (i) signalling events
R-HSA-168256 Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-418360 Platelet calcium homeostasis
R-HSA-372790 Signaling by GPCR
R-HSA-418346 Platelet homeostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000374316.1, ENST00000374316.2, ENST00000374316.3, ENST00000374316.4, ENST00000374316.5, ENST00000374316.6, ENST00000374316.7, ENST00000374316.8, ITPR3_HUMAN, Q14573, Q14649, Q5TAQ2, U01062, uc063nyh.1
UCSC ID: ENST00000374316.9
RefSeq Accession: NM_002224
Protein: Q14573 (aka ITPR3_HUMAN or IP3T_HUMAN)
CCDS: CCDS4783.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.