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

Identity

Alias_namesregulatory subunit 94
SCA15
SCA16
SCA29
Alias_symbol (synonym)Insp3r1
IP3R1
ACV
PPP1R94
Other aliasCLA4
INSP3R1
IP3R
HGNC (Hugo) ITPR1
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 2016)
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  3708  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]  chr3:4493348-4847840 [Contig_View]  ITPR1 [Vega]
ICGC DataPortalENSG00000150995
TCGA cBioPortalITPR1
AceView (NCBI)ITPR1
Genatlas (Paris)ITPR1
WikiGenes3708
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)
EnsemblITPR1 - 3p26.1 [CytoView hg19]  ITPR1 - 3p26.1 [CytoView hg38]
Mapping of homologs : NCBIITPR1 [Mapview hg19]  ITPR1 [Mapview hg38]
OMIM147265   206700   
Gene and transcription
Genbank (Entrez)AB208868 AI470158 AK293752 AK294594 AK296235
RefSeq transcript (Entrez)NM_001099952 NM_001168272 NM_002222
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITPR1
Cluster EST : UnigeneHs.715765 [ NCBI ]
CGAP (NCI)Hs.715765
Alternative Splicing GalleryENSG00000150995
Gene ExpressionITPR1 [ NCBI-GEO ]   ITPR1 [ EBI - ARRAY_EXPRESS ]   ITPR1 [ SEEK ]   ITPR1 [ MEM ]
Gene Expression Viewer (FireBrowse)ITPR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3708
GTEX Portal (Tissue expression)ITPR1
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
Splice isoforms : SwissVarQ14643
PhosPhoSitePlusQ14643
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)ARM-type_fold    Ins145_P3_rcpt    InsP3_rcpt-bd    Ion_trans_dom    MIR_motif    RIH_assoc-dom    RIH_dom    Ryanodine_recept-rel   
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
DMDM Disease mutations3708
Blocks (Seattle)ITPR1
SuperfamilyQ14643
Human Protein AtlasENSG00000150995
Peptide AtlasQ14643
HPRD00925
IPIIPI00333753   IPI00218658   IPI00218659   IPI00218660   IPI00218662   IPI00925443   IPI00218664   IPI00922622   IPI01018731   IPI00218661   
Protein Interaction databases
DIP (DOE-UCLA)Q14643
IntAct (EBI)Q14643
FunCoupENSG00000150995
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  calcium ion binding  protein binding  nuclear inner membrane  nucleolus  endoplasmic reticulum  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  platelet dense granule membrane  platelet dense tubular network  platelet dense tubular network membrane  endoplasmic reticulum calcium ion homeostasis  phosphatidylinositol binding  epithelial fluid transport  protein complex  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  regulation of molecular function  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  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  calcium ion binding  protein binding  nuclear inner membrane  nucleolus  endoplasmic reticulum  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  platelet dense granule membrane  platelet dense tubular network  platelet dense tubular network membrane  endoplasmic reticulum calcium ion homeostasis  phosphatidylinositol binding  epithelial fluid transport  protein complex  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  regulation of molecular function  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  regulation of cardiac conduction  
Pathways : KEGG   
NDEx NetworkITPR1
Atlas of Cancer Signalling NetworkITPR1
Wikipedia pathwaysITPR1
Orthology - Evolution
OrthoDB3708
GeneTree (enSembl)ENSG00000150995
Phylogenetic Trees/Animal Genes : TreeFamITPR1
HOVERGENQ14643
HOGENOMQ14643
Homologs : HomoloGeneITPR1
Homology/Alignments : Family Browser (UCSC)ITPR1
Gene fusions - Rearrangements
Fusion : MitelmanEPB41/ITPR1 [1p35.3/3p26.1]  [t(1;3)(p35;p26)]  
Fusion : MitelmanITPR1/SETMAR [3p26.1/3p26.1]  [t(3;3)(p26;p26)]  
Fusion : MitelmanITPR1/SUMF1 [3p26.1/3p26.1]  [t(3;3)(p26;p26)]  
Fusion : MitelmanSF1/ITPR1 [11q13.1/3p26.1]  [t(3;11)(p26;q13)]  
Fusion: TCGAEPB41 1p35.3 ITPR1 3p26.1 SKCM
Fusion: TCGAITPR1 3p26.1 SETMAR 3p26.1 KIRC
Fusion: TCGAITPR1 3p26.1 SUMF1 3p26.1 LUSC
Fusion: TCGASF1 11q13.1 ITPR1 3p26.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITPR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPR1
dbVarITPR1
ClinVarITPR1
1000_GenomesITPR1 
Exome Variant ServerITPR1
ExAC (Exome Aggregation Consortium)ITPR1 (select the gene name)
Genetic variants : HAPMAP3708
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]  
Mutations and Diseases : HGMDITPR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ITPR1
DgiDB (Drug Gene Interaction Database)ITPR1
DoCM (Curated mutations)ITPR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITPR1 (select a term)
intoGenITPR1
Cancer3DITPR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147265    206700   
Orphanet416    18608    13786   
MedgenITPR1
Genetic Testing Registry ITPR1
NextProtQ14643 [Medical]
TSGene3708
GENETestsITPR1
Target ValidationITPR1
Huge Navigator ITPR1 [HugePedia]
snp3D : Map Gene to Disease3708
BioCentury BCIQITPR1
ClinGenITPR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3708
Chemical/Pharm GKB GenePA29978
Clinical trialITPR1
Miscellaneous
canSAR (ICR)ITPR1 (select the gene name)
Probes
Litterature
PubMed170 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITPR1
EVEXITPR1
GoPubMedITPR1
iHOPITPR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:39:00 CEST 2017

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