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

Gene ID: 3710, updated on 21-Dec-2019

Summary

Official Symbol
ITPR3provided by HGNC
Official Full Name
inositol 1,4,5-trisphosphate receptor type 3provided by HGNC
Primary source
HGNC:HGNC:6182
See related
Ensembl:ENSG00000096433 MIM:147267
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]
Expression
Broad expression in thyroid (RPKM 29.7), skin (RPKM 28.2) and 22 other tissues See more
Orthologs

Genomic context

See ITPR3 in Genome Data Viewer
Location:
6p21.31
Exon count:
59
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33621322..33696562)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33587951..33664351)

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 uncharacterized LOC105375023 Neighboring gene microRNA 3934 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2 Neighboring gene inositol hexakisphosphate kinase 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Diabetes mellitus type 1
MedGen: C0011854 OMIM: 222100 GeneReviews: Not available
Compare labs

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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag IP3R differentially associates with HIV-1 wild-type Gag and P7L-Gag, indicating that Gag and IP3R are in proximity at the plasma membrane 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
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
Tat 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 Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
inositol 1,3,4,5 tetrakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
inositol 1,4,5 trisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol 1,4,5 trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
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
 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
inositol phosphate-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
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
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of insulin secretion TAS
Traceable Author Statement
more info
 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
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 
membrane HDA 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
inositol 1,4,5-trisphosphate receptor type 3
Names
IP3 receptor
inositol 1,4,5-triphosphate receptor, type 3
insP3R3
type 3 InsP3 receptor

NCBI Reference Sequences (RefSeq)

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_002224.4NP_002215.2  inositol 1,4,5-trisphosphate receptor type 3

    See identical proteins and their annotated locations for NP_002215.2

    Status: REVIEWED

    Source sequence(s)
    AL139044
    Consensus CDS
    CCDS4783.1
    UniProtKB/Swiss-Prot
    Q14573
    UniProtKB/TrEMBL
    A6H8K3, Q59ES2
    Related
    ENSP00000475177.1, ENST00000605930.3
    Conserved Domains (7) summary
    smart00472
    Location:232288
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:22742528
    Ion_trans; Ion transport protein
    pfam01365
    Location:475665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:234432
    MIR; MIR domain
    pfam08454
    Location:18691974
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:3226
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    pfam12730
    Location:22012332
    ABC2_membrane_4; ABC-2 family transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    33621322..33696562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010832.1XP_016866321.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X2

  2. XM_011514577.3XP_011512879.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    Conserved Domains (7) summary
    smart00472
    Location:171227
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:22132467
    Ion_trans; Ion transport protein
    pfam01365
    Location:414604
    RYDR_ITPR; RIH domain
    pfam02815
    Location:173371
    MIR; MIR domain
    pfam08454
    Location:18081913
    RIH_assoc; RyR and IP3R Homology associated
    pfam12730
    Location:21402271
    ABC2_membrane_4; ABC-2 family transporter protein
    cl19745
    Location:1165
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
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