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

Gene ID: 3710, updated on 25-Jan-2024

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; AllianceGenome:HGNC:6182
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; CMT1J; 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
NEW
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Genomic context

See ITPR3 in Genome Data Viewer
Location:
6p21.31
Exon count:
62
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33621322..33696562)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33442464..33517747)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33589099..33664339)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33546627-33547272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33552868-33553862 Neighboring gene BCL2 antagonist/killer 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:33557672-33558871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33559025-33559664 Neighboring gene long intergenic non-protein coding RNA 336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33560945-33561584 Neighboring gene gametogenetin binding protein 1 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33566996-33567496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33567497-33567997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33571503-33572004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33572005-33572504 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:33574668-33575174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33575775-33576317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33577246-33577832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33577833-33578418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17049 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33589316-33589501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33590023-33590572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33590573-33591121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33597027-33597903 Neighboring gene uncharacterized LOC124901305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33602349-33602895 Neighboring gene ITPR3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33618418-33618918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33618919-33619419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33624122-33624658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33625731-33626265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33626906-33627416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33636045-33636676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33636677-33637307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33641013-33641534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33658493-33659470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33659471-33660446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33660447-33661424 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:33662237-33663436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33665333-33666308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33672165-33672664 Neighboring gene microRNA 3934 Neighboring gene uncharacterized LOC124901304 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33678073-33678970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24368 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 2

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
Charcot-Marie-Tooth disease, demyelinating, type 1J
MedGen: C5774249 OMIM: 620111 GeneReviews: Not available
not available
Diabetes mellitus type 1
MedGen: C0011854 OMIM: 222100 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity.
EBI GWAS Catalog
Common genetic variants associate with serum phosphorus concentration.
EBI GWAS 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.
EBI GWAS Catalog
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Identification of independent risk loci for Graves' disease within the MHC in the Japanese population.
EBI GWAS 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

Clone Names

  • FLJ36205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium-release channel activity TAS
Traceable Author Statement
more info
 
enables inositol 1,3,4,5 tetrakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables inositol 1,4,5 trisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables inositol 1,4,5 trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables inositol hexakisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in memory IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sensory perception of bitter taste IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sweet taste IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of taste TAS
Traceable Author Statement
more info
 
involved_in sensory perception of umami taste IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical part of cell ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in brush border ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic side of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in myelin sheath ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nuclear outer membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
part_of receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in sarcoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

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)

NEW Try the new Transcript table

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_027729.2 RefSeqGene

    Range
    5002..80242
    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, Q14649, Q5TAQ2
    UniProtKB/TrEMBL
    Q59ES2
    Related
    ENSP00000475177.1, ENST00000605930.3
    Conserved Domains (5) summary
    pfam00520
    Location:22652528
    Ion_trans; Ion transport protein
    pfam01365
    Location:473670
    RYDR_ITPR; RIH domain
    pfam02815
    Location:234432
    MIR; MIR domain
    pfam08454
    Location:18651974
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:3230
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047418731.1XP_047274687.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X2

    UniProtKB/Swiss-Prot
    Q14573, Q14649, Q5TAQ2
    UniProtKB/TrEMBL
    Q59ES2
  2. XM_017010832.2XP_016866321.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X3

  3. XM_047418732.1XP_047274688.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2
  4. XM_047418734.1XP_047274690.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2
  5. XM_047418733.1XP_047274689.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2
  6. XM_011514577.4XP_011512879.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    33442464..33517747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355351.1XP_054211326.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X4

    UniProtKB/TrEMBL
    Q59ES2
  2. XM_054355355.1XP_054211330.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X5

  3. XM_054355352.1XP_054211327.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2
  4. XM_054355353.1XP_054211328.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2
  5. XM_054355354.1XP_054211329.1  inositol 1,4,5-trisphosphate receptor type 3 isoform X1

    UniProtKB/TrEMBL
    Q59ES2