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 and 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
| 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 | Additional Resources | 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:A0AB32TXG4 | InterPro | 2822 | ||||||||||
| UniProtKB:A0AB32TXI0 | InterPro | 2722 | ||||||||||
| UniProtKB:A0AB32TXI4 | InterPro | 2762 | ||||||||||
| UniProtKB:A0AB32TY48 | InterPro | 2809 | ||||||||||
| UniProtKB:A0AB32TZL3 | InterPro | 2810 | ||||||||||
| UniProtKB:A0AB32TZV0 | InterPro | 2798 | ||||||||||
| UniProtKB:A0AB32U088 | InterPro | 2807 | ||||||||||
| UniProtKB:A0AB32U0N8 | InterPro | 2797 | ||||||||||
| UniProtKB:A0AB32U0V1 | InterPro | 2812 | ||||||||||
| UniProtKB:A0AB32U0W5 | InterPro | 2759 | ||||||||||
| UniProtKB:A0AB32U276 | InterPro | 2810 | ||||||||||
| UniProtKB:A0AB32U288 | InterPro | 2719 | ||||||||||
| UniProtKB:A0AB32U2J4 | InterPro | 2790 | ||||||||||
| UniProtKB:A0AB32U2V7 | InterPro | 2782 | ||||||||||
| UniProtKB:A0AB32U3N4 | InterPro | 2787 | ||||||||||
| UniProtKB:A0AB32U3T7 | InterPro | 2800 | ||||||||||
| UniProtKB:A0AB32U3W1 | InterPro | 2767 | ||||||||||
| UniProtKB:A0AB32U4T8 | InterPro | 2783 |
- 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