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
Is predicted to enable 1-phosphatidylinositol-3-kinase regulator activity. Involved in insulin receptor signaling pathway; phosphatidylinositol phosphate biosynthetic process; and regulation of phosphatidylinositol 3-kinase activity. Acts upstream of or within signal transduction. Predicted to be part of phosphatidylinositol 3-kinase complex. Is expressed in eye and male organism. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; astroblastoma; endometrial cancer (multiple); immunodeficiency 36; and type 2 diabetes mellitus. Orthologous to human PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pik3r1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
agammaglobulinemia Alliance ?Agammaglobulinemia 7, autosomal recessive 615214
immunodeficiency 36 Alliance Immunodeficiency 36 616005
SHORT syndrome Alliance SHORT syndrome 269880
Associated With pik3r1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000198 Rho GTPase-activating protein domain
Domain IPR000980 SH2 domain
Domain IPR001452 SH3 domain
Domain IPR032498 PI3K regulatory subunit p85-related , inter-SH2 domain
Domain IPR035020 PI3K p85 subunit, C-terminal SH2 domain
Domain IPR035022 PI3K p85 subunit, N-terminal SH2 domain
Domain IPR035591 Phosphatidylinositol 3-kinase regulatory subunit alpha, SH3 domain
Domain IPR044124 PIK3R1, inter-SH2 domain
Homologous_superfamily IPR008936 Rho GTPase activation protein
Homologous_superfamily IPR036028 SH3-like domain superfamily
Homologous_superfamily IPR036860 SH2 domain superfamily
Domain Details Per Protein
Protein 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:B0S6V7 727
UniProtKB:A4QN75 484
UniProtKB:B0S6V6 449
UniProtKB:Q68EJ7 467
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations