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Aliases for ITPR3 Gene

Aliases for ITPR3 Gene

  • Inositol 1,4,5-Trisphosphate Receptor Type 3 2 3
  • Inositol 1,4,5-Trisphosphate Receptor, Type 3 2 3 5
  • Inositol 1,4,5-Triphosphate Receptor, Type 3 2 3
  • Type 3 InsP3 Receptor 3 4
  • InsP3R3 3 4
  • Type 3 Inositol 1,4,5-Trisphosphate Receptor 4
  • IP3 Receptor Isoform 3 4
  • IP3 Receptor 3
  • IP3R 3 4
  • IP3R3 3
  • IP3R 3

External Ids for ITPR3 Gene

Previous GeneCards Identifiers for ITPR3 Gene

  • GC06P033591
  • GC06P033636
  • GC06P033697
  • GC06P033330

Summaries for ITPR3 Gene

Entrez Gene Summary for ITPR3 Gene

  • 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]

GeneCards Summary for ITPR3 Gene

ITPR3 (Inositol 1,4,5-Trisphosphate Receptor Type 3) is a Protein Coding gene. Diseases associated with ITPR3 include diabetes mellitus, insulin-dependent and peritoneum cancer. Among its related pathways are Insulin secretion and Alzheimer's disease. GO annotations related to this gene include binding and phosphatidylinositol binding. An important paralog of this gene is RYR1.

UniProtKB/Swiss-Prot for ITPR3 Gene

  • Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.

Tocris Summary for ITPR3 Gene

  • Inositol 1,4,5-trisphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum, and mediate the mobilization of intracellular Ca2+ stores.

Gene Wiki entry for ITPR3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITPR3 Gene

Genomics for ITPR3 Gene

Regulatory Elements for ITPR3 Gene

Enhancers for ITPR3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ITPR3 on UCSC Golden Path with GeneCards custom track

Promoters for ITPR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITPR3 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITPR3 Gene

Chromosome:
6
Start:
33,620,365 bp from pter
End:
33,696,574 bp from pter
Size:
76,210 bases
Orientation:
Plus strand

Genomic View for ITPR3 Gene

Genes around ITPR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITPR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITPR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITPR3 Gene

Proteins for ITPR3 Gene

  • Protein details for ITPR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14573-ITPR3_HUMAN
    Recommended name:
    Inositol 1,4,5-trisphosphate receptor type 3
    Protein Accession:
    Q14573
    Secondary Accessions:
    • Q14649
    • Q5TAQ2

    Protein attributes for ITPR3 Gene

    Size:
    2671 amino acids
    Molecular mass:
    304106 Da
    Quaternary structure:
    • Homotetramer. Interacts with TRPC1, TRPC3 and TRPC4. Interacts with TRPV4 (PubMed:18826956). Interacts with SIGMAR1 (By similarity). Interacts with PML and AKT1 (By similarity). Interacts with LRMP (via coiled-coil domain) (By similarity). Interacts with CABP1 (PubMed:12032348). Interacts with TMBIM4/LFG4 (PubMed:19553469). Interacts with CEMIP (PubMed:23936024). Interacts with TESPA1 (By similarity). Interacts with TMEM203 (PubMed:25996873).

neXtProt entry for ITPR3 Gene

Proteomics data for ITPR3 Gene at MOPED

Post-translational modifications for ITPR3 Gene

  • Phosphorylated on tyrosine residues. Phosphorylated by AKT1 on serine and/or threonine residues (By similarity).
  • Ubiquitination at Lys 1589
  • Glycosylation at Asn 2405
  • Modification sites at PhosphoSitePlus

Other Protein References for ITPR3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ITPR3 Gene

Domains & Families for ITPR3 Gene

Suggested Antigen Peptide Sequences for ITPR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14573

UniProtKB/Swiss-Prot:

ITPR3_HUMAN :
  • 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.
  • Belongs to the InsP3 receptor family.
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.
  • Contains 5 MIR domains.
Family:
  • Belongs to the InsP3 receptor family.
genes like me logo Genes that share domains with ITPR3: view

Function for ITPR3 Gene

Molecular function for ITPR3 Gene

GENATLAS Biochemistry:
inositol 1,4,5-triphosphate receptor,type 3,coexpressed with RYR3 in neurons and smooth muscle cells forming heterotetrameric channel with ITPR1 and ITPR2,involved in Ca++ mobilization from the endoplastic reticulum,poorly sensitive to IP3 and CA++,mediating monophasic Ca++ transients
UniProtKB/Swiss-Prot Function:
Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium.

Gene Ontology (GO) - Molecular Function for ITPR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070679 inositol 1,4,5 trisphosphate binding IDA 8288584
genes like me logo Genes that share ontologies with ITPR3: view
genes like me logo Genes that share phenotypes with ITPR3: view

Animal Models for ITPR3 Gene

MGI Knock Outs for ITPR3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ITPR3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ITPR3 Gene

Localization for ITPR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITPR3 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITPR3 Gene COMPARTMENTS Subcellular localization image for ITPR3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
nucleus 4
cytosol 3
mitochondrion 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for ITPR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005640 nuclear outer membrane ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0030425 dendrite IEA --
GO:0031095 platelet dense tubular network membrane TAS --
GO:0043025 neuronal cell body ISS --
genes like me logo Genes that share ontologies with ITPR3: view

Pathways & Interactions for ITPR3 Gene

SuperPathways for ITPR3 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 DAG and IP3 signaling
3 Development Angiotensin activation of ERK
4 Circadian entrainment
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with ITPR3: view

Gene Ontology (GO) - Biological Process for ITPR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport IEA --
GO:0007186 G-protein coupled receptor signaling pathway ISS --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with ITPR3: view

No data available for SIGNOR curated interactions for ITPR3 Gene

Drugs & Compounds for ITPR3 Gene

(10) Drugs for ITPR3 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist, cofactor 761,246
Caffeine Approved Nutra Antagonist, Target 349
Ca<sup>2+</sup> Pharma Activator 0
DECAVANADATE Pharma Antagonist 0
IP<sub>3</sub> Pharma Activator 0

(4) Additional Compounds for ITPR3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0

(1) Tocris Compounds for ITPR3 Gene

Compound Action Cas Number
2-APB IP3 receptor antagonist. Also TRP channel modulator 524-95-8
genes like me logo Genes that share compounds with ITPR3: view

Transcripts for ITPR3 Gene

mRNA/cDNA for ITPR3 Gene

Unigene Clusters for ITPR3 Gene

Inositol 1,4,5-trisphosphate receptor, type 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITPR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b ·
SP1: - -
SP2: - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 42c ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49a · 49b · 49c ^ 50 ^ 51 ^ 52 ^ 53a · 53b · 53c ^ 54a · 54b ^ 55a · 55b · 55c ^ 56 ^ 57a · 57b ^ 58 ^ 59a ·
SP1: - - -
SP2:
SP3:
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for ITPR3 Gene

GeneLoc Exon Structure for
ITPR3
ECgene alternative splicing isoforms for
ITPR3

Expression for ITPR3 Gene

mRNA expression in normal human tissues for ITPR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITPR3 Gene

This gene is overexpressed in Nasal epithelium (47.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ITPR3 Gene



SOURCE GeneReport for Unigene cluster for ITPR3 Gene Hs.65758

mRNA Expression by UniProt/SwissProt for ITPR3 Gene

Q14573-ITPR3_HUMAN
Tissue specificity: Expressed in intestinal crypt and villus epithelial cells.
genes like me logo Genes that share expression patterns with ITPR3: view

Protein tissue co-expression partners for ITPR3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ITPR3 Gene

Orthologs for ITPR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITPR3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITPR3 35
  • 92.77 (n)
  • 96.85 (a)
ITPR3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITPR3 35
  • 92.61 (n)
  • 97.42 (a)
ITPR3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itpr3 35
  • 89.41 (n)
  • 95.36 (a)
Itpr3 16
Itpr3 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITPR3 35
  • 98.45 (n)
  • 98.34 (a)
ITPR3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itpr3 35
  • 89.7 (n)
  • 95.28 (a)
oppossum
(Monodelphis domestica)
Mammalia ITPR3 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITPR3 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITPR3 35
  • 83.53 (n)
  • 90.08 (a)
ITPR3 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ITPR3 36
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.23369 35
itpr3 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.660 35
fruit fly
(Drosophila melanogaster)
Insecta Itp-r83A 37
  • 51 (a)
Itp-r83A 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea itr-1 37
  • 36 (a)
itr-1 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for ITPR3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ITPR3 Gene

ENSEMBL:
Gene Tree for ITPR3 (if available)
TreeFam:
Gene Tree for ITPR3 (if available)

Paralogs for ITPR3 Gene

Paralogs for ITPR3 Gene

(2) SIMAP similar genes for ITPR3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ITPR3: view

Variants for ITPR3 Gene

Sequence variations from dbSNP and Humsavar for ITPR3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs11963294 - 33,668,628(+) CATCC(A/G)GACCG reference, missense
rs2229633 - 33,670,361(+) TTGGA(A/C/T)CGCCA reference, missense
rs2296333 - 33,674,235(-) GCTCC(A/C)CGATG reference, missense
rs9461899 - 33,683,263(+) CGATG(C/G)TCAGC reference, missense
rs12528378 - 33,685,709(+) GCGCC(A/G)GGGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ITPR3 Gene

Variant ID Type Subtype PubMed ID
nsv885770 CNV Loss 21882294
dgv85n68 CNV Loss 17160897
nsv5250 CNV Loss 18451855
nsv470811 CNV Loss 18288195
nsv885771 CNV Loss 21882294
nsv522906 CNV Loss 19592680
nsv885772 CNV Loss 21882294
esv8764 CNV Gain 19470904

Variation tolerance for ITPR3 Gene

Residual Variation Intolerance Score: 0.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITPR3 Gene

HapMap Linkage Disequilibrium report
ITPR3
Human Gene Mutation Database (HGMD)
ITPR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITPR3 Gene

Disorders for ITPR3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ITPR3 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent
  • diabetes, type 1
peritoneum cancer
  • cancer of peritoneum
coronary artery aneurysm
  • coronary aneurysm
- elite association - COSMIC cancer census association via MalaCards
Search ITPR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ITPR3

Genetic Association Database (GAD)
ITPR3
Human Genome Epidemiology (HuGE) Navigator
ITPR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITPR3
genes like me logo Genes that share disorders with ITPR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ITPR3 Gene

Publications for ITPR3 Gene

  1. Primary structure, ligand binding, and localization of the human type 3 inositol 1,4,5-trisphosphate receptor expressed in intestinal epithelium. (PMID: 8288584) Maranto A.R. (J. Biol. Chem. 1994) 2 3 4 23 67
  2. Cloning and characterization of human type 2 and type 3 inositol 1,4,5-trisphosphate receptors. (PMID: 8081734) Yamamoto-Hino M. … Mikoshiba K. (Recept. Channels 1994) 2 3 23
  3. Caveolin-1 scaffold domain interacts with TRPC1 and IP3R3 to regulate Ca2+ store release-induced Ca2+ entry in endothelial cells. (PMID: 19052258) Sundivakkam P.C. … Tiruppathi C. (Am. J. Physiol., Cell Physiol. 2009) 3 23
  4. A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. (PMID: 18219441) Oishi T. … Matsuda K. (J. Hum. Genet. 2008) 3 23
  5. Role of sigma-1 receptor C-terminal segment in inositol 1,4,5-trisphosphate receptor activation: constitutive enhancement of calcium signaling in MCF-7 tumor cells. (PMID: 18539593) Wu Z. … Bowen W.D. (J. Biol. Chem. 2008) 3 23

Products for ITPR3 Gene

Sources for ITPR3 Gene

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