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ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)

Identity

Alias (NCBI)ACV
CLA4
INSP3R1
IP3R
IP3R1
PPP1R94
SCA15
SCA16
SCA29
HGNC (Hugo) ITPR1
HGNC Alias symbInsp3r1
IP3R1
ACV
PPP1R94
HGNC Alias nameprotein phosphatase 1, regulatory subunit 94
HGNC Previous nameSCA15
 SCA16
 SCA29
HGNC Previous namespinocerebellar ataxia 15
 spinocerebellar ataxia 16
 spinocerebellar ataxia 29
 inositol 1,4,5-trisphosphate receptor, type 1
LocusID (NCBI) 3708
Atlas_Id 45527
Location 3p26.1  [Link to chromosome band 3p26]
Location_base_pair Starts at 4493348 and ends at 4847840 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EPB41 (1p35.3) / ITPR1 (3p26.1)ITPR1 (3p26.1) / DOCK5 (8p21.2)ITPR1 (3p26.1) / ITPR1 (3p26.1)
ITPR1 (3p26.1) / SETMAR (3p26.1)ITPR1 (3p26.1) / SOCS7 (17q12)ITPR1 (3p26.1) / SUMF1 (3p26.1)
MAPK9 (5q35.3) / ITPR1 (3p26.1)SF1 (11q13.1) / ITPR1 (3p26.1)EPB41 1p35.3 / ITPR1 3p26.1
ITPR1 3p26.1 / SETMAR 3p26.1ITPR1 3p26.1 / SUMF1 3p26.1SF1 11q13.1 / ITPR1 3p26.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ITPR1   6180
Cards
Entrez_Gene (NCBI)ITPR1    inositol 1,4,5-trisphosphate receptor type 1
AliasesACV; CLA4; INSP3R1; IP3R; 
IP3R1; PPP1R94; SCA15; SCA16; SCA29
GeneCards (Weizmann)ITPR1
Ensembl hg19 (Hinxton)ENSG00000150995 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000150995 [Gene_View]  ENSG00000150995 [Sequence]  chr3:4493348-4847840 [Contig_View]  ITPR1 [Vega]
ICGC DataPortalENSG00000150995
TCGA cBioPortalITPR1
AceView (NCBI)ITPR1
Genatlas (Paris)ITPR1
SOURCE (Princeton)ITPR1
Genetics Home Reference (NIH)ITPR1
Genomic and cartography
GoldenPath hg38 (UCSC)ITPR1  -     chr3:4493348-4847840 +  3p26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITPR1  -     3p26.1   [Description]    (hg19-Feb_2009)
GoldenPathITPR1 - 3p26.1 [CytoView hg19]  ITPR1 - 3p26.1 [CytoView hg38]
ImmunoBaseENSG00000150995
Genome Data Viewer NCBIITPR1 [Mapview hg19]  
OMIM117360   147265   206700   606658   
Gene and transcription
Genbank (Entrez)AB208868 AI470158 AK293752 AK294594 AK296235
RefSeq transcript (Entrez)NM_001099952 NM_001168272 NM_001378452 NM_002222
Consensus coding sequences : CCDS (NCBI)ITPR1
Gene ExpressionITPR1 [ NCBI-GEO ]   ITPR1 [ EBI - ARRAY_EXPRESS ]   ITPR1 [ SEEK ]   ITPR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPR1 [ Firebrowse - Broad ]
GenevisibleExpression of ITPR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3708
GTEX Portal (Tissue expression)ITPR1
Human Protein AtlasENSG00000150995-ITPR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14643   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14643  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14643
PhosPhoSitePlusQ14643
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)ARM-type_fold    Ins145_P3_rcpt    InsP3_rcpt    Ion_trans_dom    MIR_dom_sf    MIR_motif    RIH_assoc-dom    RIH_dom    RyR/IP3R_RIH_dom_sf   
Domain families : Pfam (Sanger)Ins145_P3_rec (PF08709)    Ion_trans (PF00520)    MIR (PF02815)    RIH_assoc (PF08454)    RYDR_ITPR (PF01365)   
Domain families : Pfam (NCBI)pfam08709    pfam00520    pfam02815    pfam08454    pfam01365   
Domain families : Smart (EMBL)MIR (SM00472)  
Conserved Domain (NCBI)ITPR1
SuperfamilyQ14643
AlphaFold pdb e-kbQ14643   
Human Protein Atlas [tissue]ENSG00000150995-ITPR1 [tissue]
HPRD00925
Protein Interaction databases
DIP (DOE-UCLA)Q14643
IntAct (EBI)Q14643
BioGRIDITPR1
STRING (EMBL)ITPR1
ZODIACITPR1
Ontologies - Pathways
QuickGOQ14643
Ontology : AmiGOresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  calcium ion binding  protein binding  nuclear inner membrane  nucleolus  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  calcineurin complex  calcium ion transport  signal transduction  post-embryonic development  regulation of autophagy  postsynaptic density  calcium ion transmembrane transporter activity  calcium-release channel activity  membrane  integral component of membrane  sarcoplasmic reticulum  calcium channel inhibitor activity  platelet activation  transport vesicle membrane  cytoplasmic vesicle membrane  secretory granule membrane  platelet dense granule membrane  platelet dense tubular network  platelet dense tubular network membrane  endoplasmic reticulum calcium ion homeostasis  phosphatidylinositol binding  phosphatidylinositol binding  epithelial fluid transport  inositol phosphate-mediated signaling  perinuclear region of cytoplasm  regulation of insulin secretion  negative regulation of calcium-mediated signaling  voluntary musculoskeletal movement  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  inositol 1,4,5 trisphosphate binding  Schaffer collateral - CA1 synapse  inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels  regulation of postsynaptic cytosolic calcium ion concentration  regulation of cardiac conduction  
Ontology : EGO-EBIresponse to hypoxia  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  calcium ion binding  protein binding  nuclear inner membrane  nucleolus  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  plasma membrane  calcineurin complex  calcium ion transport  signal transduction  post-embryonic development  regulation of autophagy  postsynaptic density  calcium ion transmembrane transporter activity  calcium-release channel activity  membrane  integral component of membrane  sarcoplasmic reticulum  calcium channel inhibitor activity  platelet activation  transport vesicle membrane  cytoplasmic vesicle membrane  secretory granule membrane  platelet dense granule membrane  platelet dense tubular network  platelet dense tubular network membrane  endoplasmic reticulum calcium ion homeostasis  phosphatidylinositol binding  phosphatidylinositol binding  epithelial fluid transport  inositol phosphate-mediated signaling  perinuclear region of cytoplasm  regulation of insulin secretion  negative regulation of calcium-mediated signaling  voluntary musculoskeletal movement  release of sequestered calcium ion into cytosol  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  inositol 1,4,5 trisphosphate binding  Schaffer collateral - CA1 synapse  inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels  regulation of postsynaptic cytosolic calcium ion concentration  regulation of cardiac conduction  
Pathways : KEGGCalcium signaling pathway    Phosphatidylinositol signaling system    Oocyte meiosis    Vascular smooth muscle contraction    Gap junction    Circadian entrainment    Long-term potentiation    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    Dopaminergic synapse    Long-term depression    GnRH signaling pathway    Estrogen signaling pathway    Thyroid hormone synthesis    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Alzheimer's disease    Huntington's disease    Proteoglycans in cancer   
NDEx NetworkITPR1
Atlas of Cancer Signalling NetworkITPR1
Wikipedia pathwaysITPR1
Orthology - Evolution
OrthoDB3708
GeneTree (enSembl)ENSG00000150995
Phylogenetic Trees/Animal Genes : TreeFamITPR1
Homologs : HomoloGeneITPR1
Homology/Alignments : Family Browser (UCSC)ITPR1
Gene fusions - Rearrangements
Fusion : MitelmanEPB41/ITPR1 [1p35.3/3p26.1]  
Fusion : MitelmanITPR1/SETMAR [3p26.1/3p26.1]  
Fusion : MitelmanITPR1/SUMF1 [3p26.1/3p26.1]  
Fusion : MitelmanSF1/ITPR1 [11q13.1/3p26.1]  
Fusion : QuiverITPR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPR1
dbVarITPR1
ClinVarITPR1
MonarchITPR1
1000_GenomesITPR1 
Exome Variant ServerITPR1
GNOMAD BrowserENSG00000150995
Varsome BrowserITPR1
ACMGITPR1 variants
VarityQ14643
Genomic Variants (DGV)ITPR1 [DGVbeta]
DECIPHERITPR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITPR1 
Mutations
ICGC Data PortalITPR1 
TCGA Data PortalITPR1 
Broad Tumor PortalITPR1
OASIS PortalITPR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITPR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DITPR1
Mutations and Diseases : HGMDITPR1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaITPR1
DgiDB (Drug Gene Interaction Database)ITPR1
DoCM (Curated mutations)ITPR1
CIViC (Clinical Interpretations of Variants in Cancer)ITPR1
Cancer3DITPR1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM117360    147265    206700    606658   
Orphanet416    18608    13786   
DisGeNETITPR1
MedgenITPR1
Genetic Testing Registry ITPR1
NextProtQ14643 [Medical]
GENETestsITPR1
Target ValidationITPR1
Huge Navigator ITPR1 [HugePedia]
ClinGenITPR1
Clinical trials, drugs, therapy
MyCancerGenomeITPR1
Protein Interactions : CTDITPR1
Pharm GKB GenePA29978
Pharm GKB PathwaysPA2024   
PharosQ14643
Clinical trialITPR1
Miscellaneous
canSAR (ICR)ITPR1
HarmonizomeITPR1
DataMed IndexITPR1
Probes
Litterature
PubMed218 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXITPR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:14:25 CEST 2021

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