About   Help   FAQ
Itpr1 Gene Detail
Summary
  • Symbol
    Itpr1
  • Name
    inositol 1,4,5-trisphosphate receptor 1
  • Synonyms
    InsP3R type I, Ip3r, IP3R1, Itpr-1, opt, P400, Pcp1, Pcp-1, wblo
  • Feature Type
    protein coding gene
  • IDs
    MGI:96623
    NCBI Gene: 16438
  • Gene Overview
    MyGene.info: ITPR1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:108213096-108551109 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 49.74 cM
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4120 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96623
protein coding gene Chr6:108213083-108551116 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031100
protein coding gene Chr6:110469518-110816694 (+)
A/J MGP_AJ_G0031069
protein coding gene Chr6:106285193-106619918 (+)
AKR/J MGP_AKRJ_G0031000
protein coding gene Chr6:109158600-109498930 (+)
BALB/cJ MGP_BALBcJ_G0031080
protein coding gene Chr6:106220636-106549444 (+)
C3H/HeJ MGP_C3HHeJ_G0030628
protein coding gene Chr6:74856288-75187124 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031539
protein coding gene Chr6:113383684-113728215 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028703
protein coding gene Chr6:103580531-103917506 (+)
CAST/EiJ MGP_CASTEiJ_G0030187
protein coding gene Chr6:109529960-109869562 (+)
CBA/J MGP_CBAJ_G0030766
protein coding gene Chr6:117768899-118111393 (+)
DBA/2J MGP_DBA2J_G0030919
protein coding gene Chr6:105433188-105760560 (+)
FVB/NJ MGP_FVBNJ_G0030873
protein coding gene Chr6:104458876-104789399 (+)
LP/J MGP_LPJ_G0030999
protein coding gene Chr6:110545683-110882756 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030907
protein coding gene Chr6:121996282-122341859 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031566
protein coding gene Chr6:109104429-109438639 (+)
PWK/PhJ MGP_PWKPhJ_G0029903
protein coding gene Chr6:104345594-104677860 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029731
protein coding gene Chr6:107892349-108235070 (+)
WSB/EiJ MGP_WSBEiJ_G0030271
protein coding gene Chr6:109641336-109982493 (+)



Homology
more
  • Human Ortholog
    ITPR1, inositol 1,4,5-trisphosphate receptor type 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ITPR1, inositol 1,4,5-trisphosphate receptor type 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
  • Links
    NCBI Gene ID: 3708
    neXtProt AC: NX_Q14643
    UniProt: Q14643

  • Chr Location
    3p26.1; chr3:4493348-4847840 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 1673
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ITPR1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human ITPR1 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    42 phenotypes from 6 alleles in 9 genetic backgrounds
    1 phenotype from multigenic genotypes
    47 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030102 Ensembl Gene Model | MGI Sequence Detail 338014 C57BL/6J ±  kb
    transcript ENSMUST00000032192 Ensembl | MGI Sequence Detail 9870 Not Applicable  
    polypeptide ENSMUSP00000032192 Ensembl | MGI Sequence Detail 2749 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 134
      Genomic 5
      cDNA 128
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-11506, MGD-MRK-11508, MGD-MRK-13043, MGD-MRK-13182, MGD-MRK-13185, MGD-MRK-16179, MGD-MRK-7700, MGI:4437431, MGI:93795, MGI:97507
    References
    more
    • Summaries
      All 199
      Developmental Gene Expression 25
      Diseases 1
      Gene Ontology 32
      Phenotypes 47
    • Earliest
      J:9499 Nordquist DT, et al., cDNA cloning and characterization of three genes uniquely expressed in cerebellum by Purkinje neurons. J Neurosci. 1988 Dec;8(12):4780-9
    • Latest
      J:245887 Butler MR, et al., Endoplasmic reticulum (ER) Ca2+-channel activity contributes to ER stress and cone death in cyclic nucleotide-gated channel deficiency. J Biol Chem. 2017 Jul 07;292(27):11189-11205

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory