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ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 [ Homo sapiens (human) ]

Gene ID: 3710, updated on 19-Apr-2014
Official Symbol
ITPR3provided by HGNC
Official Full Name
inositol 1,4,5-trisphosphate receptor, type 3provided by HGNC
Primary source
HGNC:6182
See related
Ensembl:ENSG00000096433; HPRD:00926; MIM:147267; Vega:OTTHUMG00000014532
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IP3R; IP3R3
Summary
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]
Location :
6p21
Sequence :
Chromosome: 6; NC_000006.12 (33621379..33696574)
See ITPR3 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BCL2-antagonist/killer 1 Neighboring gene long intergenic non-protein coding RNA 336 Neighboring gene gametogenetin binding protein 1 (pseudogene) Neighboring gene uncharacterized LOC101929188 Neighboring gene microRNA 3934 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2 Neighboring gene inositol hexakisphosphate kinase 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Diabetes mellitus type 1
MedGen: C0011854 OMIM: 222100 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity.
NHGRI GWA Catalog
Common genetic variants associate with serum phosphorus concentration.
NHGRI GWA Catalog
Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
NHGRI GWA Catalog
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Gag, Pr55 gag HIV-1 Gag co-localizes with IP3R-3 in plasma-membrane-proximal punctuate structures and plasma membrane PubMed
gag SPRY-mediated inhibition of HIV-1 Gag release is repressed by IP3R PubMed
gag Inositol (1,4,5)-triphosphate receptor (IP3R) is required for efficient release of HIV-1 Gag in the presence or absence of TSG101 binding PubMed
Tat, p14 tat HIV-1 Tat induces release of calcium from inositol 1,4,5-triphosphate receptor-regulated stores in neurons and astrocytes, an effect that plays an important role in Tat-induced TNF-alpha production PubMed

Go to the HIV-1, Human Protein Interaction Database

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    Phosphatidylinositol signaling system, organism-specific biosystem
    Phosphatidylinositol signaling system
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    Phosphatidylinositol signaling system
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  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
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  • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
    Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
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  • Taste transduction, organism-specific biosystem (from KEGG)
    Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
  • Taste transduction, conserved biosystem (from KEGG)
    Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
  • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
    Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Thyroid hormone synthesis, conserved biosystem (from KEGG)
    Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
  • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
    Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
    Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
  • beta-catenin independent WNT signaling, organism-specific biosystem (from REACTOME)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inositol 1,3,4,5 tetrakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
inositol 1,4,5 trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
inositol hexakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular ligand-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
G-protein coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
activation of phospholipase C activity TAS
Traceable Author Statement
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
fibroblast growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
neurotrophin TRK receptor signaling pathway TAS
Traceable Author Statement
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
protein heterooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
sensory perception of bitter taste IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sweet taste IEA
Inferred from Electronic Annotation
more info
 
sensory perception of umami taste IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical part of cell ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
brush border ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
inositol 1,4,5-trisphosphate receptor type 3
Names
inositol 1,4,5-trisphosphate receptor type 3
insP3R3
IP3 receptor
type 3 InsP3 receptor
inositol 1,4,5-triphosphate receptor, type 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027729.1 RefSeqGene

    Range
    5001..80196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002224.3NP_002215.2  inositol 1,4,5-trisphosphate receptor type 3

    See proteins identical to NP_002215.2

    Status: REVIEWED

    Source sequence(s)
    AB209739, BC146646, CA430212, D26351, U01062
    Consensus CDS
    CCDS4783.1
    UniProtKB/TrEMBL
    A6H8K3
    UniProtKB/Swiss-Prot
    Q14573
    UniProtKB/TrEMBL
    Q59ES2
    Related
    ENSP00000475177, ENST00000605930
    Conserved Domains (6) summary
    smart00472
    Location:232288
    Blast Score: 101
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam01027
    Location:21952302
    Blast Score: 91
    Bax1-I; Inhibitor of apoptosis-promoting Bax1
    pfam01365
    Location:471676
    Blast Score: 657
    RYDR_ITPR; RIH domain
    pfam02815
    Location:234432
    Blast Score: 596
    MIR; MIR domain
    pfam08454
    Location:18691979
    Blast Score: 361
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:3225
    Blast Score: 908
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12

    Range
    33621379..33696574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715091.1XP_006715154.1  

    Conserved Domains (6) summary
    smart00472
    Location:232288
    Blast Score: 101
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam01027
    Location:22242331
    Blast Score: 91
    Bax1-I; Inhibitor of apoptosis-promoting Bax1
    pfam01365
    Location:471676
    Blast Score: 658
    RYDR_ITPR; RIH domain
    pfam02815
    Location:234432
    Blast Score: 596
    MIR; MIR domain
    pfam08454
    Location:18982008
    Blast Score: 363
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:3225
    Blast Score: 908
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  2. XM_006715092.1XP_006715155.1  

    Conserved Domains (4) summary
    smart00472
    Location:232288
    Blast Score: 101
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam01365
    Location:471676
    Blast Score: 667
    RYDR_ITPR; RIH domain
    pfam02815
    Location:234432
    Blast Score: 593
    MIR; MIR domain
    pfam08709
    Location:3225
    Blast Score: 908
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  3. XM_006715093.1XP_006715156.1  

    Conserved Domains (4) summary
    smart00472
    Location:232288
    Blast Score: 101
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam01365
    Location:471676
    Blast Score: 664
    RYDR_ITPR; RIH domain
    pfam02815
    Location:234432
    Blast Score: 593
    MIR; MIR domain
    pfam08709
    Location:3225
    Blast Score: 906
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

Alternate HuRef

Genomic

  1. AC_000138.1 Alternate HuRef

    Range
    33330927..33406007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    33591516..33666641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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