Gene
itpr1b
- ID
- ZDB-GENE-070604-2
- Name
- inositol 1,4,5-trisphosphate receptor, type 1b
- Symbol
- itpr1b Nomenclature History
- Previous Names
- 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
-
- 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 Summary
Mutations
Human Disease
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 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
congenital heart disease | AB/TL + MO1-itpr1b | standard conditions | Izarzugaza et al., 2020 |
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 |
Family | IPR015925 | Ryanodine/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 | Ryanodine/Inositol 1,4,5-trisphosphate receptor | RyR/IP3 receptor binding core, RIH domain superfamily | RyR/IP3R Homology associated domain |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QDR3
|
2767 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
itpr1b-201
(1)
|
Havana | 9633 nt | |
mRNA |
itpr1b-202
(1)
|
Ensembl | 8196 nt | |
mRNA |
itpr1b-203
(1)
|
Ensembl | 7746 nt | |
mRNA |
itpr1b-204
(1)
|
Ensembl | 1788 nt | |
mRNA |
itpr1b-205
(1)
|
Ensembl | 7602 nt | |
mRNA |
itpr1b-206
(1)
|
Ensembl | 8154 nt | |
mRNA |
itpr1b-207
(1)
|
Ensembl | 8223 nt | |
mRNA |
itpr1b-208
(1)
|
Ensembl | 7917 nt | |
mRNA |
itpr1b-209
(1)
|
Ensembl | 8148 nt | |
mRNA |
itpr1b-210
(1)
|
Ensembl | 7731 nt | |
mRNA |
itpr1b-211
(1)
|
Ensembl | 7743 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance