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

Identity

Other namesINSP3R1
IP3R
IP3R1
SCA15
SCA16
SCA29
HGNC (Hugo) ITPR1
LocusID (NCBI) 3708
Location 3p26.1
Location_base_pair Starts at 4535032 and ends at 4889524 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)ITPR1
Ensembl (Hinxton)ENSG00000150995 [Gene_View]  chr3:4535032-4889524 [Contig_View]  ITPR1 [Vega]
ICGC DataPortalENSG00000150995
cBioPortalITPR1
AceView (NCBI)ITPR1
Genatlas (Paris)ITPR1
WikiGenes3708
SOURCE (Princeton)NM_001099952 NM_001168272 NM_002222
Genomic and cartography
GoldenPath (UCSC)ITPR1  -  3p26.1   chr3:4535032-4889524 +  3p26.1   [Description]    (hg19-Feb_2009)
EnsemblITPR1 - 3p26.1 [CytoView]
Mapping of homologs : NCBIITPR1 [Mapview]
OMIM117360   147265   606658   
Gene and transcription
Genbank (Entrez)AB208868 AI470158 AK293752 AK294594 AK296235
RefSeq transcript (Entrez)NM_001099952 NM_001168272 NM_002222
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_016144 NT_022517 NW_001838876 NW_004929309
Consensus coding sequences : CCDS (NCBI)ITPR1
Cluster EST : UnigeneHs.715765 [ NCBI ]
CGAP (NCI)Hs.715765
Alternative Splicing : Fast-db (Paris)GSHG0020544
Alternative Splicing GalleryENSG00000150995
Gene ExpressionITPR1 [ NCBI-GEO ]     ITPR1 [ SEEK ]   ITPR1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14643 (Uniprot)
NextProtQ14643  [Medical]
With graphics : InterProQ14643
Splice isoforms : SwissVarQ14643 (Swissvar)
Domaine pattern : Prosite (Expaxy)MIR (PS50919)   
Domains : Interpro (EBI)ARM-type_fold [organisation]   Ca-rel_channel [organisation]   Ins145_P3_rcpt [organisation]   InsP3_rcpt-bd [organisation]   Ion_trans_dom [organisation]   MIR_motif [organisation]   RIH_assoc-dom [organisation]   Ryanodine_recept-rel [organisation]  
Related proteins : CluSTrQ14643
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)  
DMDM Disease mutations3708
Blocks (Seattle)Q14643
Human Protein AtlasENSG00000150995 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidQ14643
Interologous Interaction database Q14643
IntegromeDBITPR1
STRING (EMBL)ITPR1
Ontologies - Pathways
Ontology : AmiGOresponse to hypoxia  intracellular ligand-gated calcium channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  protein binding  nuclear inner membrane  nucleolus  endoplasmic reticulum  endoplasmic reticulum membrane  calcineurin complex  energy reserve metabolic process  calcium ion transport  signal transduction  signal transduction  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  blood coagulation  fibroblast growth factor receptor signaling pathway  post-embryonic development  postsynaptic density  calcium ion transmembrane transporter activity  integral to membrane  sarcoplasmic reticulum  platelet activation  platelet dense granule membrane  platelet dense tubular network  platelet dense tubular network membrane  endoplasmic reticulum calcium ion homeostasis  phosphatidylinositol binding  Fc-epsilon receptor signaling pathway  Fc-gamma receptor signaling pathway involved in phagocytosis  small molecule metabolic process  innate immune response  neurotrophin TRK receptor signaling pathway  inositol phosphate-mediated signaling  inositol phosphate-mediated signaling  regulation of insulin secretion  voluntary musculoskeletal movement  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  
Ontology : EGO-EBIresponse to hypoxia  intracellular ligand-gated calcium channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  protein binding  nuclear inner membrane  nucleolus  endoplasmic reticulum  endoplasmic reticulum membrane  calcineurin complex  energy reserve metabolic process  calcium ion transport  signal transduction  signal transduction  epidermal growth factor receptor signaling pathway  activation of phospholipase C activity  blood coagulation  fibroblast growth factor receptor signaling pathway  post-embryonic development  postsynaptic density  calcium ion transmembrane transporter activity  integral to membrane  sarcoplasmic reticulum  platelet activation  platelet dense granule membrane  platelet dense tubular network  platelet dense tubular network membrane  endoplasmic reticulum calcium ion homeostasis  phosphatidylinositol binding  Fc-epsilon receptor signaling pathway  Fc-gamma receptor signaling pathway involved in phagocytosis  small molecule metabolic process  innate immune response  neurotrophin TRK receptor signaling pathway  inositol phosphate-mediated signaling  inositol phosphate-mediated signaling  regulation of insulin secretion  voluntary musculoskeletal movement  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  
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   
Protein Interaction DatabaseITPR1
Wikipedia pathwaysITPR1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ITPR1
snp3D : Map Gene to Disease3708
SNP (GeneSNP Utah)ITPR1
SNP : HGBaseITPR1
Genetic variants : HAPMAPITPR1
Exome VariantITPR1
1000_GenomesITPR1 
ICGC programENSG00000150995 
Somatic Mutations in Cancer : COSMICITPR1 
CONAN: Copy Number AnalysisITPR1 
Mutations and Diseases : HGMDITPR1
Genomic VariantsITPR1  ITPR1 [DGVbeta]
dbVarITPR1
ClinVarITPR1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM117360    147265    606658   
MedgenITPR1
GENETestsITPR1
Disease Genetic AssociationITPR1
Huge Navigator ITPR1 [HugePedia]  ITPR1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneITPR1
Homology/Alignments : Family Browser (UCSC)ITPR1
Phylogenetic Trees/Animal Genes : TreeFamITPR1
Chemical/Protein Interactions : CTD3708
Chemical/Pharm GKB GenePA29978
Clinical trialITPR1
Cancer Resource (Charite)ENSG00000150995
Other databases
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
CoreMineITPR1
iHOPITPR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:01:21 CEST 2014

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