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 have 1-phosphatidylinositol-3-kinase regulator activity. Predicted to be involved in insulin receptor signaling pathway; phosphatidylinositol phosphorylation; and regulation of phosphatidylinositol 3-kinase activity. Predicted to localize to phosphatidylinositol 3-kinase complex. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; astroblastoma; endometrial cancer (multiple); lung small cell carcinoma; and primary immunodeficiency disease (multiple). Is expressed in eye. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 7	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:A0A8M2BCY4 InterPro	405
UniProtKB:B0S6V6 InterPro	449
UniProtKB:A0A8M2BCX6 InterPro	426
UniProtKB:B0S6V7 InterPro	727

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pik3r1-201 (1) Ensembl	Ensembl	5,130 nt	Select Tool ZFIN BLAST
mRNA	pik3r1-203 (1) Ensembl	Ensembl	1,435 nt	Select Tool ZFIN BLAST
mRNA	pik3r1-204 (1) Ensembl	Ensembl	6,247 nt	Select Tool ZFIN BLAST
ncRNA	pik3r1-002 (1) Ensembl	Ensembl	777 nt	Select Tool ZFIN BLAST

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