ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable inositol 1,4,5 trisphosphate binding activity and inositol 1,4,5-trisphosphate-gated calcium channel activity. Acts upstream of or within atrioventricular canal development; cranial skeletal system development; and determination of heart left/right asymmetry. Predicted to be located in endoplasmic reticulum membrane and transport vesicle membrane. Is expressed in Purkinje cell; cerebellum; granule cell; hindbrain; and optic tectum. Used to study congenital heart disease. Human ortholog(s) of this gene implicated in Gillespie syndrome; spinocerebellar ataxia type 15; and spinocerebellar ataxia type 29. Orthologous to human ITPR1 (inositol 1,4,5-trisphosphate receptor type 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 5 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 15 | Alliance | Spinocerebellar ataxia 15 | 606658 |
| spinocerebellar ataxia 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
No data available
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
itpr1b-201
(1)
|
Ensembl | 9,633 nt | ||
| mRNA |
itpr1b-202
(1)
|
Ensembl | 8,196 nt | ||
| mRNA |
itpr1b-203
(1)
|
Ensembl | 7,746 nt | ||
| mRNA |
itpr1b-204
(1)
|
Ensembl | 1,788 nt | ||
| mRNA |
itpr1b-205
(1)
|
Ensembl | 7,602 nt | ||
| mRNA |
itpr1b-206
(1)
|
Ensembl | 8,154 nt | ||
| mRNA |
itpr1b-207
(1)
|
Ensembl | 8,223 nt | ||
| mRNA |
itpr1b-208
(1)
|
Ensembl | 7,917 nt | ||
| mRNA |
itpr1b-209
(1)
|
Ensembl | 8,148 nt | ||
| mRNA |
itpr1b-210
(1)
|
Ensembl | 7,731 nt | ||
| mRNA |
itpr1b-211
(1)
|
Ensembl | 7,743 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance