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Itpr1
Gene Detail
Symbol

Name
ID
Itpr1
inositol 1,4,5-trisphosphate receptor 1
MGI:96623
Synonyms
InsP3R type I, Ip3r, IP3R1, Itpr-1, opt, P400, Pcp1, Pcp-1
Feature Type
protein coding gene
Genetic Map
Chromosome 6
49.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(19)
Sequence Map
Chr6:108213118-108551109 bp, + strand
From Ensembl annotation of GRCm38

  337992 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1673  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ITPR1
Gene Tree: Itpr1

Human
homologs
ITPR1, inositol 1,4,5-trisphosphate receptor, type 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 3708
neXtProt AC: NX_Q14643

Human Synonyms: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29

Human Chr (Location): 3p26.1; chr3:4493348-4847840 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(73) : Gene trapped(66) Spontaneous(3) Targeted(3) Transgenic(1)
Genomic Mutations involving Itpr1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Most homozygotes for a targeted null mutation die in utero, while survivors exhibit severe ataxia, seizures, and lethality by weaning age. Homozygotes for a spontaneous mutation exhibit a postnatal phenotype similar to that of knockout mutants.
 
Interactions
Itpr1 interacts with 327 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (82 annotations)
Process apoptotic process, calcium ion transmembrane transport, ...
Component calcineurin complex, cell, ...
Function calcium channel activity, calcium channel inhibitor activity, ...
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (117)    Tissues (65)    Images (32)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 113
Northern blot 4
cDNA source data(123)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase itpr1 ; ZFIN itpr1a    NEW 
Molecular
reagents
All nucleic(133) Genomic(5) cDNA(127) Primer pair(1)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000030102 (Evidence)
Entrez Gene 16438 (Evidence)
UniGene 227912
DFCI TC1576173, TC1620834
DoTS DT.532963, DT.91279412, DT.97402279
NIA Mouse Gene Index U007246
PDB 1N4K, 1XZZ
Consensus CDS Project CCDS51869.1
International Mouse Phenotyping Consortium Status Itpr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000030102 Ensembl Gene Model | MGI Sequence Detail 337992 C57BL/6J ±  kb
transcript ENSMUST00000032192 Ensembl | MGI Sequence Detail 9848 Not Applicable 
polypeptide ENSMUSP00000032192 Ensembl | MGI Sequence Detail 2749 Not Applicable 

For the selected sequences
All sequences(79) RefSeq(32) UniProt(6)
Polymorphisms
All PCR and RFLP(7) : PCR(2) RFLP(5) SNPs within 2kb(4149 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000493 Inositol 1,4,5-trisphosphate-binding protein receptor
InterPro IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
InterPro IPR000699 Intracellular calcium-release channel
InterPro IPR005821 Ion transport domain
InterPro IPR016093 MIR motif
InterPro IPR015925 Ryanodine receptor-related
InterPro IPR013662 RyR/IP3R Homology associated domain
Protein Ontology PR:000009158 inositol 1,4,5-trisphosphate receptor type 1
References
(Earliest) J:13536 Lane PW, Opisthotonus (opt); crooked (Cd). Mouse News Lett. 1972;47:36-7
(Latest) J:211264 Shilling D, et al., Suppression of InsP3 receptor-mediated Ca2+ signaling alleviates mutant presenilin-linked familial Alzheimer's disease pathogenesis. J Neurosci. 2014 May 14;34(20):6910-23
All references(154)
Other
accession IDs
MGD-MRK-11506, MGD-MRK-11508, MGD-MRK-13043, MGD-MRK-13182, MGD-MRK-13185, MGD-MRK-16179, MGD-MRK-7700, MGI:93795, MGI:97507

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory