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    ITPR1 inositol 1,4,5-trisphosphate receptor type 1 [ Homo sapiens (human) ]

    Gene ID: 3708, updated on 7-Sep-2023

    Summary

    Official Symbol
    ITPR1provided by HGNC
    Official Full Name
    inositol 1,4,5-trisphosphate receptor type 1provided by HGNC
    Primary source
    HGNC:HGNC:6180
    See related
    Ensembl:ENSG00000150995 MIM:147265; AllianceGenome:HGNC:6180
    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
    ACV; CLA4; IP3R; IP3R1; SCA15; SCA16; SCA29; INSP3R1; PPP1R94
    Summary
    This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 15.8), brain (RPKM 10.9) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ITPR1 in Genome Data Viewer
    Location:
    3p26.1
    Exon count:
    62
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (4493348..4847506)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (4487354..4841309)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (4535032..4889190)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene sulfatase modifying factor 1 Neighboring gene uncharacterized LOC124909340 Neighboring gene Sharpr-MPRA regulatory region 12228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:4555812-4556324 Neighboring gene Sharpr-MPRA regulatory region 14798 Neighboring gene ITPR1 divergent transcript Neighboring gene uncharacterized LOC124906344 Neighboring gene uncharacterized LOC105376933 Neighboring gene uncharacterized LOC124906210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:4760598-4761098 Neighboring gene Sharpr-MPRA regulatory region 7157 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:4824730-4825689 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 Neighboring gene uncharacterized LOC124906209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:4866229-4866729 Neighboring gene eosinophil granule ontogeny transcript Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG hESC enhancer GRCh37_chr3:4947837-4948542 Neighboring gene BHLHE40 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:4958477-4959105 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:5021511-5022105 Neighboring gene basic helix-loop-helix family member e40

    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

    EBI GWAS Catalog

    Description
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef interacts with inositol 1,4,5-triphosphate receptor (IP3R) to trigger the activation of plasma membrane calcium influx channels PubMed
    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) function is required for efficient release of HIV-1 Gag 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

    • DKFZp313E1334, DKFZp313N1434

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables calcium-release channel activity 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
    PubMed 
    enables inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels IEA
    Inferred from Electronic Annotation
    more info
     
    enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    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 1,4,5-trisphosphate-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in calcium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endoplasmic reticulum calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial fluid transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ion channel modulating, G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ligand-gated ion channel signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of calcium-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of postsynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in release of sequestered calcium ion into cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in voluntary musculoskeletal movement IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of calcineurin complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in platelet dense granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in platelet dense tubular network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in platelet dense tubular network membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in secretory granule membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    inositol 1,4,5-trisphosphate receptor type 1
    Names
    IP3 receptor
    IP3R 1
    inositol 1,4,5-triphosphate receptor, type 1
    protein phosphatase 1, regulatory subunit 94
    type 1 InsP3 receptor
    type 1 inositol 1,4,5-trisphosphate 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_016144.2 RefSeqGene

      Range
      5002..359160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099952.4NP_001093422.2  inositol 1,4,5-trisphosphate receptor type 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC018816, AC024168, AC069248, AC090944
      Consensus CDS
      CCDS46740.2
      UniProtKB/Swiss-Prot
      Q14643
      UniProtKB/TrEMBL
      A0A3B3IU04, B4DER3, Q59H91
      Related
      ENSP00000349597.4, ENST00000357086.10
      Conserved Domains (6) summary
      smart00472
      Location:231287
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:23022561
      Ion_trans; Ion transport protein
      pfam01365
      Location:476665
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232433
      MIR; MIR domain
      pfam08454
      Location:19252030
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4225
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. NM_001168272.2NP_001161744.1  inositol 1,4,5-trisphosphate receptor type 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, uses an alternate in-frame splice site and includes three additional exons in the central coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.
      Source sequence(s)
      AC018816, AC024168, AC069248, AC090944, U23850
      Consensus CDS
      CCDS54551.1
      UniProtKB/Swiss-Prot
      Q14643
      UniProtKB/TrEMBL
      A0A3B3ITU8
      Related
      ENSP00000401671.2, ENST00000443694.5
      Conserved Domains (6) summary
      smart00472
      Location:231287
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:23352594
      Ion_trans; Ion transport protein
      pfam01365
      Location:461650
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232418
      MIR; MIR domain
      pfam08454
      Location:19582063
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4225
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    3. NM_001378452.1NP_001365381.1  inositol 1,4,5-trisphosphate receptor type 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC018816, AC024168, AC069248, AC090944
      Consensus CDS
      CCDS93191.1
      UniProtKB/Swiss-Prot
      E7EPX7, E9PDE9, Q14643, Q14660, Q99897
      UniProtKB/TrEMBL
      A0A3B3IU04
      Related
      ENSP00000497605.1, ENST00000649015.2
      Conserved Domains (5) summary
      pfam00520
      Location:23592609
      Ion_trans; Ion transport protein
      pfam01365
      Location:474670
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232433
      MIR; MIR domain
      pfam08454
      Location:19712078
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4229
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    4. NM_002222.7NP_002213.5  inositol 1,4,5-trisphosphate receptor type 1 isoform 2

      See identical proteins and their annotated locations for NP_002213.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC018816, AC024168, AC069248, AC090944
      Consensus CDS
      CCDS54550.1
      UniProtKB/Swiss-Prot
      Q14643
      UniProtKB/TrEMBL
      A0A3B3ITU8, B4DER3, B4DGH1, Q59H91
      Related
      ENSP00000397885.2, ENST00000456211.8
      Conserved Domains (6) summary
      smart00472
      Location:231287
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:22872546
      Ion_trans; Ion transport protein
      pfam01365
      Location:461650
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232418
      MIR; MIR domain
      pfam08454
      Location:19102015
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:4225
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      4493348..4847506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      4487354..4841309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)