Human Gene ITPR3 (ENST00000605930.3)
  Description: Homo sapiens inositol 1,4,5-trisphosphate receptor type 3 (ITPR3), mRNA. (from RefSeq NM_002224)
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: ENST00000605930.3
Gencode Gene: ENSG00000096433.11
Transcript (Including UTRs)
   Position: hg38 chr6:33,621,322-33,696,562 Size: 75,241 Total Exon Count: 58 Strand: +
Coding Region
   Position: hg38 chr6:33,621,603-33,695,780 Size: 74,178 Coding Exon Count: 58 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:33,621,322-33,696,562)mRNA (may differ from genome)Protein (2671 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  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.

-  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 -146.90281-0.523 Picture PostScript Text
3' UTR -271.80782-0.348 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
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  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.
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: ENST00000605930.1, ENST00000605930.2, ITPR3_HUMAN, NM_002224, Q14573, Q14649, Q5TAQ2, uc063nyi.1, uc063nyi.2
UCSC ID: ENST00000605930.3
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.