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
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to colocalize with nuclear chromatin. 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
- 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 type 15 | Alliance | Spinocerebellar ataxia 15 | 606658 |
spinocerebellar ataxia type 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
Protein | Length | 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:A0A8M9PGB9
|
2722 | |||||||||
UniProtKB:A0A8M9QAB8
|
2707 | |||||||||
UniProtKB:A0A8M9PTD6
|
2721 | |||||||||
UniProtKB:A0A8M9QAC2
|
2678 | |||||||||
UniProtKB:A0A8M9Q732
|
2165 | |||||||||
UniProtKB:A0A8M9PGC5
|
2694 | |||||||||
UniProtKB:A0A8M3B3K9
|
2696 | |||||||||
UniProtKB:A0A8M3ATJ5
|
2710 | |||||||||
UniProtKB:A0A8M9PZD0
|
2711 | |||||||||
UniProtKB:A0A8M2BDG0
|
2711 | |||||||||
UniProtKB:F8W4B1
|
2682 | |||||||||
UniProtKB:A0A8M6YZS1
|
2695 | |||||||||
UniProtKB:A0A8M9Q5F0
|
2706 | |||||||||
UniProtKB:A0A8M6Z7H7
|
2667 | |||||||||
UniProtKB:A0A8M9PZD6
|
2176 | |||||||||
UniProtKB:A0A8M9PTE4
|
2693 | |||||||||
UniProtKB:A0A8M3B0M5
|
2683 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
itpr1a-201
(1)
|
Ensembl | 8193 nt | |
mRNA |
itpr1a-202
(1)
|
Havana | 8747 nt | |
mRNA |
itpr1a-203
(1)
|
Ensembl | 8124 nt | |
mRNA |
itpr1a-204
(1)
|
Ensembl | 1785 nt | |
mRNA |
itpr1a-205
(1)
|
Ensembl | 8238 nt | |
mRNA |
itpr1a-206
(1)
|
Ensembl | 8181 nt | |
mRNA |
itpr1a-207
(1)
|
Ensembl | 2127 nt |
Interactions and Pathways
No data available
Plasmids
No data available