Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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

Identity

Other namesACV
CLA4
INSP3R1
IP3R
IP3R1
PPP1R94
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 hg19 (Hinxton)ENSG00000150995 [Gene_View]  chr3:4535032-4889524 [Contig_View]  ITPR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000150995 [Gene_View]  chr3:4535032-4889524 [Contig_View]  ITPR1 [Vega]
ICGC DataPortalENSG00000150995
cBioPortalITPR1
AceView (NCBI)ITPR1
Genatlas (Paris)ITPR1
WikiGenes3708
SOURCE (Princeton)ITPR1
Genomic and cartography
GoldenPath hg19 (UCSC)ITPR1  -     chr3:4535032-4889524 +  3p26.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ITPR1  -     3p26.1   [Description]    (hg38-Dec_2013)
EnsemblITPR1 - 3p26.1 [CytoView hg19]  ITPR1 - 3p26.1 [CytoView hg38]
Mapping of homologs : NCBIITPR1 [Mapview hg19]  ITPR1 [Mapview hg38]
OMIM147265   
Gene and transcription
Genbank (Entrez)AB208868 AI470158 AK293752 AK294594 AK296235
RefSeq transcript (Entrez)NM_001099952 NM_001168272 NM_002222
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_016144 NT_022517 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    Ins145_P3_rcpt    InsP3_rcpt-bd    Ion_trans_dom    MIR_motif    RIH_assoc-dom    RIH_dom    Ryanodine_recept-rel   
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
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
IntegromeDBITPR1
STRING (EMBL)ITPR1
Ontologies - Pathways
QuickGOQ14643
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  membrane  integral component of membrane  sarcoplasmic reticulum  calcium channel inhibitor activity  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  vascular endothelial growth factor receptor signaling pathway  neurotrophin TRK receptor signaling pathway  inositol phosphate-mediated signaling  inositol phosphate-mediated signaling  inositol phosphate-mediated signaling  regulation of insulin secretion  negative regulation of calcium-mediated signaling  voluntary musculoskeletal movement  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  calcium ion transmembrane transport  
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  membrane  integral component of membrane  sarcoplasmic reticulum  calcium channel inhibitor activity  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  vascular endothelial growth factor receptor signaling pathway  neurotrophin TRK receptor signaling pathway  inositol phosphate-mediated signaling  inositol phosphate-mediated signaling  inositol phosphate-mediated signaling  regulation of insulin secretion  negative regulation of calcium-mediated signaling  voluntary musculoskeletal movement  release of sequestered calcium ion into cytosol  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  calcium ion transmembrane transport  
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
DoCM (Curated mutations)ITPR1
Wikipedia pathwaysITPR1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerITPR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITPR1
dbVarITPR1
ClinVarITPR1
1000_GenomesITPR1 
Exome Variant ServerITPR1
SNP (GeneSNP Utah)ITPR1
SNP : HGBaseITPR1
Genetic variants : HAPMAPITPR1
Genomic Variants (DGV)ITPR1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000150995 
Somatic Mutations in Cancer : COSMICITPR1 
CONAN: Copy Number AnalysisITPR1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:4535032-4889524
Mutations and Diseases : HGMDITPR1
OMIM147265   
MedgenITPR1
NextProtQ14643 [Medical]
GENETestsITPR1
Disease Genetic AssociationITPR1
Huge Navigator ITPR1 [HugePedia]  ITPR1 [HugeCancerGEM]
snp3D : Map Gene to Disease3708
DGIdb (Drug Gene Interaction db)ITPR1
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
PubMed148 Pubmed reference(s) in Entrez
CoreMineITPR1
GoPubMedITPR1
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 15:43:49 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.