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

Gene ID: 3708, updated on 11-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
3p26.1
Exon count:
62
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (4493348..4847506)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid silent region 14016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14018 Neighboring gene Sharpr-MPRA regulatory region 12228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19352 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 ReSE screen-validated silencer GRCh37_chr3:4790473-4790665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19354 Neighboring gene Sharpr-MPRA regulatory region 7157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19355 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 ReSE screen-validated silencer GRCh37_chr3:4859780-4860166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:4866229-4866729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19359 Neighboring gene eosinophil granule ontogeny transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14019 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 ReSE screen-validated silencer GRCh37_chr3:4987703-4987867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:5021511-5022105 Neighboring gene basic helix-loop-helix family member e40

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values. das Chagas PF, et al. J Mol Neurosci, 2022 Mar. PMID 34822110
  2. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Keehan L, et al. Am J Med Genet A, 2021 Aug. PMID 33949769, Free PMC Article
  3. Inositol Trisphosphate Receptors and Nuclear Calcium in Atrial Fibrillation. Qi XY, et al. Circ Res, 2021 Mar 5. PMID 33375812, Free PMC Article
  4. IP(3) Receptors Preferentially Associate with ER-Lysosome Contact Sites and Selectively Deliver Ca(2+) to Lysosomes. Atakpa P, et al. Cell Rep, 2018 Dec 11. PMID 30540949, Free PMC Article
  5. Aberrant IP(3) receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29. Ando H, et al. Proc Natl Acad Sci U S A, 2018 Nov 27. PMID 30429331, Free PMC Article

See all (242) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
    Title: Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
  2. Identification of ITPR1 gene as a novel target for hsa-miR-34b-5p in non-obstructive azoospermia: a Ca[2+]/apoptosis pathway cross-talk.
    Title: Identification of ITPR1 gene as a novel target for hsa-miR-34b-5p in non-obstructive azoospermia: a Ca(2+)/apoptosis pathway cross-talk.
  3. The Complex Effects of PKM2 and PKM2:IP3R Disruption on Intracellular Ca[2+] Handling and Cellular Functions.
    Title: The Complex Effects of PKM2 and PKM2:IP(3)R Disruption on Intracellular Ca(2+) Handling and Cellular Functions.
  4. Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
    Title: Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
  5. Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population.
    Title: Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population.
  6. KRAP is required for diffuse and punctate IP3-mediated Ca(2+) liberation and determines the number of functional IP3R channels within clusters.
    Title: KRAP is required for diffuse and punctate IP(3)-mediated Ca(2+) liberation and determines the number of functional IP(3)R channels within clusters.
  7. Decreased GZMB, NRP1, ITPR1, and SERPINB9 Transcripts Lead to Reduced Regulatory T Cells Suppressive Capacity in Generalized Vitiligo Patients.
    Title: Decreased GZMB, NRP1, ITPR1, and SERPINB9 Transcripts Lead to Reduced Regulatory T Cells Suppressive Capacity in Generalized Vitiligo Patients.
  8. A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice.
    Title: A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice.
  9. Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values.
    Title: Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values.
  10. Upregulation of IP3 receptor mediates APP-induced defects in synaptic downscaling and sleep homeostasis.
    Title: Upregulation of IP(3) receptor mediates APP-induced defects in synaptic downscaling and sleep homeostasis.
Submit: New GeneRIF Correction See all GeneRIFs (127)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-10-12)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2023-10-12)

ClinGen Genome Curation PagePubMed

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
  
enables calcium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables inositol 1,4,5 trisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables inositol 1,4,5-trisphosphate-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables inositol 1,4,5-trisphosphate-gated calcium channel activity TAS
Traceable Author Statement
more info
 PubMed 
enables intracellularly gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
  
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
  
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
  
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
  
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
  
is_active_in secretory granule membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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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_001099952.4 → NP_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/TrEMBL
    A0A3B3IU04
    Related
    ENSP00000349597.4, ENST00000357086.10
    Conserved Domains (6) summary
    smart00472
    Location:231 → 287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:2302 → 2561
    Ion_trans; Ion transport protein
    pfam01365
    Location:476 → 665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232 → 433
    MIR; MIR domain
    pfam08454
    Location:1925 → 2030
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4 → 225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

  2. NM_001168272.2 → NP_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/TrEMBL
    A0A3B3ITU8
    Related
    ENSP00000401671.2, ENST00000443694.5
    Conserved Domains (6) summary
    smart00472
    Location:231 → 287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:2335 → 2594
    Ion_trans; Ion transport protein
    pfam01365
    Location:461 → 650
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232 → 418
    MIR; MIR domain
    pfam08454
    Location:1958 → 2063
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4 → 225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

  3. NM_001378452.1 → NP_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:2359 → 2609
    Ion_trans; Ion transport protein
    pfam01365
    Location:474 → 670
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232 → 433
    MIR; MIR domain
    pfam08454
    Location:1971 → 2078
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4 → 229
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

  4. NM_002222.7 → NP_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/TrEMBL
    A0A3B3ITU8
    Related
    ENSP00000397885.2, ENST00000456211.8
    Conserved Domains (6) summary
    smart00472
    Location:231 → 287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:2287 → 2546
    Ion_trans; Ion transport protein
    pfam01365
    Location:461 → 650
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232 → 418
    MIR; MIR domain
    pfam08454
    Location:1910 → 2015
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4 → 225
    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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14643.3 GenPept UniProtKB/Swiss-Prot:Q14643

Gene LinkOut

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Chemical Information
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