ZFIN is now using GRCz12tu for Genomic Data
Gene
itpr1a
- ID
- ZDB-GENE-070604-3
- Name
- inositol 1,4,5-trisphosphate receptor, type 1a
- Symbol
- itpr1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 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. Predicted to be involved in release of sequestered calcium ion into cytosol. Predicted to act upstream of or within calcium ion transmembrane transport. Predicted to be located in endoplasmic reticulum membrane and transport vesicle membrane. Human ortholog(s) of this gene implicated in Gillespie syndrome; spinocerebellar ataxia 15; and spinocerebellar ataxia 29. Orthologous to human ITPR1 (inositol 1,4,5-trisphosphate receptor type 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
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 |
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 | IPR035910 | RyR/IP3 receptor binding core, RIH domain superfamily |
| Homologous_superfamily | IPR036300 | Mir domain superfamily |
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
itpr1a-201
(1)
|
Ensembl | 8,193 nt | ||
| mRNA |
itpr1a-202
(1)
|
Ensembl | 8,747 nt | ||
| mRNA |
itpr1a-203
(1)
|
Ensembl | 8,124 nt | ||
| mRNA |
itpr1a-204
(1)
|
Ensembl | 1,785 nt | ||
| mRNA |
itpr1a-205
(1)
|
Ensembl | 8,238 nt | ||
| mRNA |
itpr1a-206
(1)
|
Ensembl | 8,181 nt | ||
| mRNA |
itpr1a-207
(1)
|
Ensembl | 2,127 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers