Gene
itpr3
- ID
- ZDB-GENE-070605-1
- Name
- inositol 1,4,5-trisphosphate receptor, type 3
- Symbol
- itpr3 Nomenclature History
- Previous Names
-
- si:dkey-163f12.8
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have anion binding activity; calcium ion binding activity; and inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity. Involved in embryonic skeletal system development. Predicted to localize to several cellular components, including endoplasmic reticulum membrane; sarcoplasmic reticulum; and secretory granule membrane. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus. Is expressed in brain; head; and pericardial region. Orthologous to human ITPR3 (inositol 1,4,5-trisphosphate receptor type 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Henke et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| type 1 diabetes mellitus | Alliance | {Diabetes, type 1, susceptibility to} | 222100 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 620111 |
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:A0A8M6Z0J4
|
2639 | ||||||||||
|
UniProtKB:A0A8M6Z266
|
2635 | ||||||||||
|
UniProtKB:A0A0R4IH08
|
2634 |
Interactions and Pathways
No data available
Plasmids
No data available