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

Gene ID: 3708, updated on 17-Nov-2020

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
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

Genomic context

See ITPR1 in Genome Data Viewer
Location:
3p26.1
Exon count:
63
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (4493348..4847506)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (4535032..4889524)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene sulfatase modifying factor 1 Neighboring gene mitochondrial ribosomal protein S10 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 14798 Neighboring gene ITPR1 divergent transcript Neighboring gene uncharacterized LOC105376933 Neighboring gene eosinophil granule ontogeny transcript Neighboring gene BHLHE40 antisense RNA 1 Neighboring gene uncharacterized LOC105376934 Neighboring gene CRISPRi-validated cis-regulatory element chr3.91 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

Associated conditions

Description Tests
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
GeneReviews: Not available
Gillespie syndrome
MedGen: C0431401 OMIM: 206700 GeneReviews: Not available
Compare labs
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Spinocerebellar ataxia type 16 Compare labs
Spinocerebellar ataxia type 29
MedGen: C1861732 OMIM: 117360 GeneReviews: Hereditary Ataxia Overview
Compare labs

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

Homology

Clone Names

  • DKFZp313E1334, DKFZp313N1434

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
calcium-release channel activity 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-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 ISS
Inferred from Sequence or Structural Similarity
more info
 
inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
epithelial fluid transport IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
platelet activation TAS
Traceable Author Statement
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagy TAS
Traceable Author Statement
more info
PubMed 
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 
release of sequestered calcium ion into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
voluntary musculoskeletal movement IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
calcineurin complex IEA
Inferred from Electronic Annotation
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 NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
platelet dense granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet dense tubular network IDA
Inferred from Direct Assay
more info
PubMed 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
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 
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)

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_016144.1 RefSeqGene

    Range
    5001..359493
    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
    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
    Related
    ENSP00000306253.8, ENST00000302640.12
    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
    Related
    ENSP00000497605.1, ENST00000649015.1
  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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011533681.1XP_011531983.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X1

    See identical proteins and their annotated locations for XP_011531983.1

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23512610
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19742079
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  2. XM_011533685.2XP_011531987.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X4

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23402599
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19632068
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  3. XM_011533686.2XP_011531988.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X5

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23392598
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19622067
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  4. XM_006713131.3XP_006713194.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X7

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23282587
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19512056
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  5. XM_005265109.3XP_005265166.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X8

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23272586
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19502055
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  6. XM_005265110.3XP_005265167.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X10

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23112570
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19342039
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  7. XM_011533684.2XP_011531986.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X3

    Related
    ENSP00000346595.8, ENST00000354582.11
    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23422601
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19652070
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  8. XM_011533687.2XP_011531989.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X6

    Related
    ENSP00000498056.1, ENST00000650294.1
    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23362595
    Ion_trans; Ion transport protein
    pfam01365
    Location:461650
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232418
    MIR; MIR domain
    pfam08454
    Location:19592064
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  9. XM_011533688.2XP_011531990.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X9

    Related
    ENSP00000497026.1, ENST00000648309.1
    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23272586
    Ion_trans; Ion transport protein
    pfam01365
    Location:461650
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232418
    MIR; MIR domain
    pfam08454
    Location:19502055
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  10. XM_011533690.2XP_011531992.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X11

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23102569
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19742079
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  11. XM_017006357.2XP_016861846.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X12

  12. XM_011533691.1XP_011531993.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X13

    Conserved Domains (4) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  13. XM_011533692.2XP_011531994.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X14

    Conserved Domains (4) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
  14. XM_017006358.1XP_016861847.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X15

  15. XM_011533682.3XP_011531984.1  inositol 1,4,5-trisphosphate receptor type 1 isoform X1

    See identical proteins and their annotated locations for XP_011531984.1

    Conserved Domains (6) summary
    smart00472
    Location:231287
    MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
    pfam00520
    Location:23512610
    Ion_trans; Ion transport protein
    pfam01365
    Location:476665
    RYDR_ITPR; RIH domain
    pfam02815
    Location:232433
    MIR; MIR domain
    pfam08454
    Location:19742079
    RIH_assoc; RyR and IP3R Homology associated
    pfam08709
    Location:4225
    Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
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