Gene
pik3r1
- ID
- ZDB-GENE-030131-1280
- Name
- phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
- Symbol
- pik3r1 Nomenclature History
- Previous Names
-
- wu:fb65b05
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable 1-phosphatidylinositol-3-kinase regulator activity. Predicted to be involved in insulin receptor signaling pathway. Predicted to act upstream of or within signal transduction. Predicted to be part of phosphatidylinositol 3-kinase complex, class IA. Is expressed in eye and male organism. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; astroblastoma; endometrial cancer (multiple); and immunodeficiency 36. Orthologous to human PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 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 |
|---|---|---|---|
| agammaglobulinemia 7 | Alliance | ?Agammaglobulinemia 7, autosomal recessive | 615214 |
| immunodeficiency 36 | Alliance | Immunodeficiency 36 | 616005 |
| SHORT syndrome | Alliance | SHORT syndrome | 269880 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Phosphatidylinositol 3-kinase regulatory subunit alpha, SH3 domain | PI3K p85 subunit, C-terminal SH2 domain | PI3K p85 subunit, N-terminal SH2 domain | PI3K regulatory subunit p85-related , inter-SH2 domain | PIK3R1, inter-SH2 domain | Rho GTPase-activating protein domain | Rho GTPase activation protein | SH2 domain | SH2 domain superfamily | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BCY4 | InterPro | 405 | |||||||||||
| UniProtKB:B0S6V6 | InterPro | 449 | |||||||||||
| UniProtKB:A0A8M2BCX6 | InterPro | 426 | |||||||||||
| UniProtKB:B0S6V7 | InterPro | 727 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pik3r1-201
(1)
|
Ensembl | 5,130 nt | ||
| mRNA |
pik3r1-203
(1)
|
Ensembl | 1,435 nt | ||
| mRNA |
pik3r1-204
(1)
|
Ensembl | 6,247 nt | ||
| ncRNA |
pik3r1-002
(1)
|
Ensembl | 777 nt |
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Interactions and Pathways
No data available
Plasmids
No data available