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
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
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
No data available
Domain Details Per Protein
Protein Length
UniProtKB:A0A8M9QDR3 2767
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