Gene

itpr1b

ID
ZDB-GENE-070604-2
Name
inositol 1,4,5-trisphosphate receptor, type 1b
Symbol
itpr1b Nomenclature History
Previous Names
  • ITPR1b2 (1)
  • ITPRx (1)
  • zmp:0000000743
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Predicted to have inositol 1,4,5 trisphosphate binding activity and inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to localize to endoplasmic reticulum and integral component of membrane. Human ortholog(s) of this gene implicated in Gillespie syndrome; spinocerebellar ataxia type 15; and spinocerebellar ataxia type 29. Is expressed in Purkinje cell; cerebellum; granule cell; hindbrain; and optic tectum. Orthologous to human ITPR1 (inositol 1,4,5-trisphosphate receptor type 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Izarzugaza et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With itpr1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Gillespie syndrome Alliance Gillespie syndrome 206700
spinocerebellar ataxia type 15 Alliance Spinocerebellar ataxia 15 606658
spinocerebellar ataxia type 29 Alliance Spinocerebellar ataxia 29, congenital nonprogressive 117360
Associated With itpr1b Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000699 RIH domain
Domain IPR005821 Ion transport domain
Domain IPR013662 RyR/IP3R Homology associated domain
Domain IPR014821 Inositol 1,4,5-trisphosphate/ryanodine receptor
Domain IPR016093 MIR motif
Family IPR000493 Inositol 1,4,5-trisphosphate receptor
Homologous_superfamily IPR016024 Armadillo-type fold
Homologous_superfamily IPR035910 RyR/IP3 receptor binding core, RIH domain superfamily
Homologous_superfamily IPR036300 Mir domain superfamily
Domain Details Per Protein
Protein Length Armadillo-type fold Inositol 1,4,5-trisphosphate receptor Inositol 1,4,5-trisphosphate/ryanodine receptor Ion transport domain Mir domain superfamily MIR motif RIH domain RyR/IP3 receptor binding core, RIH domain superfamily RyR/IP3R Homology associated domain
UniProtKB:A0A2R8QHK3 2581
UniProtKB:E7FB06 2782
UniProtKB:A0A2R8QRV0 2576
UniProtKB:A0A2R8Q2R4 2533
UniProtKB:A0A2R8Q9S2 2740
UniProtKB:A0A2R8Q567 2715
UniProtKB:A0A0R4IX04 2731
UniProtKB:A0A2R8Q711 2580
UniProtKB:A0A2R8RLP3 2638
UniProtKB:A0A2R8PYY5 2717
UniProtKB:A0A2R8QH81 595
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations