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 enable several functions, including calcium ion binding activity; inositol 1,4,5 trisphosphate binding activity; and inositol 1,4,5-trisphosphate-gated calcium channel activity. Acts upstream of or within embryonic skeletal system development. Predicted to be located in endoplasmic reticulum and transport vesicle membrane. Predicted to be active in endoplasmic reticulum; plasma membrane; and secretory granule membrane. Is expressed in brain; head; and pericardial region. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and type 1 diabetes mellitus. 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