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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
Location & Maps
more
  • Sequence Map
    Chr6:108213096-108551109 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      338014 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 49.74 cM
  • Mapping Data
    20 experiments
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
  • Synonyms
    ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
  • Links
    NCBI Gene ID: 3708
    neXtProt AC: NX_Q14643

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

  • HomoloGene
    Vertebrate Homology Class 1673
    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
Human Diseases
more
  • Diseases
    1 with human ITPR1 associations

Human Disease Mouse Models
       Gillespie Syndrome; GLSP   OMIM: 206700
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
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  • Phenotype Summary
    32 phenotypes from 4 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    43 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    75
  • Gene trapped
    66
  • Spontaneous
    4
  • Targeted
    4
  • Transgenic
    1
  • Genomic Mutations
    1 involving Itpr1
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000056439 VEGA Gene Model | MGI Sequence Detail 338014 C57BL/6J ±  kb
transcript OTTMUST00000139424 VEGA | MGI Sequence Detail 9870 Not Applicable  
polypeptide OTTMUSP00000073157 VEGA | MGI Sequence Detail 2749 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    4120 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    10 Sequences
  • Protein Ontology
    PR:000009158 inositol 1,4,5-trisphosphate receptor type 1
  • PDB
  • InterPro Domains
    IPR000493 Inositol 1,4,5-trisphosphate-binding protein receptor
    IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
    IPR005821 Ion transport domain
    IPR016093 MIR motif
    IPR000699 RIH (RyR and IP3R Homology) domain
    IPR015925 Ryanodine receptor-related
    IPR013662 RyR/IP3R Homology associated domain
Molecular
Reagents
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  • All nucleic 133
    Genomic 5
    cDNA 127
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
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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 156
    Developmental Gene Expression 21
    Diseases 1
    Gene Ontology 23
    Phenotypes 43
  • Earliest
    J:13536 Lane PW, Opisthotonus (opt); crooked (Cd). Mouse News Lett. 1972;47:36-7
  • Latest
    J:231957 McEntagart M, et al., A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J Hum Genet. 2016 May 5;98(5):981-92

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory