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Pik3r1 Gene Detail
Summary
  • Symbol
    Pik3r1
  • Name
    phosphoinositide-3-kinase regulatory subunit 1
  • Synonyms
    p50alpha, p55alpha, p85alpha, PI3K
  • Feature Type
    protein coding gene
  • IDs
    MGI:97583
    NCBI Gene: 18708
  • Alliance
    gene page
  • Transcription Start Sites
    24 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:101817269-101904725 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 53.92 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2177 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97583
 protein coding gene Chr13:101817071-101904725 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020897
 protein coding gene Chr13:103666650-103761103 (-)
A/J MGP_AJ_G0020848
 protein coding gene Chr13:99629642-99720124 (-)
AKR/J MGP_AKRJ_G0020823
 protein coding gene Chr13:102684018-102781379 (-)
BALB/cJ MGP_BALBcJ_G0020848
 protein coding gene Chr13:100373162-100462174 (-)
C3H/HeJ MGP_C3HHeJ_G0020637
 protein coding gene Chr13:102420857-102509677 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021282
 protein coding gene Chr13:106759088-106850617 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018852
 protein coding gene Chr13:95394050-95480770 (-)
CAST/EiJ MGP_CASTEiJ_G0020156
 protein coding gene Chr13:101877004-101968043 (-)
CBA/J MGP_CBAJ_G0020599
 protein coding gene Chr13:110994163-111091456 (-)
DBA/2J MGP_DBA2J_G0020723
 protein coding gene Chr13:99430976-99522624 (-)
FVB/NJ MGP_FVBNJ_G0020705
 protein coding gene Chr13:98148205-98236646 (-)
LP/J MGP_LPJ_G0020797
 protein coding gene Chr13:103719274-103812599 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020733
 protein coding gene Chr13:111227998-111319754 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021321
 protein coding gene Chr13:102159944-102254725 (-)
PWK/PhJ MGP_PWKPhJ_G0019909
 protein coding gene Chr13:98151694-98239900 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019731
 protein coding gene Chr13:98372867-98462056 (-)
WSB/EiJ MGP_WSBEiJ_G0020214
 protein coding gene Chr13:102612565-102701822 (-)



Homology
more
  • Human Ortholog
    PIK3R1, phosphoinositide-3-kinase regulatory subunit 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIK3R1, phosphoinositide-3-kinase regulatory subunit 1
  • Synonyms
    AGM7, GRB1, IMD36, p85, p85alpha, p85-ALPHA
  • Links
    NCBI Gene ID: 5295
    neXtProt AC: NX_P27986
    UniProt: P27986

  • Chr Location
    5q13.1; chr5:68215740-68301821 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pik3r1 mouse models; 10 with human PIK3R1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    64 phenotypes from 9 alleles in 12 genetic backgrounds
    19 phenotypes from multigenic genotypes
    129 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    165
  • GO References
    42
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1061
  • Tissues
    216
  • cDNA Data
    114
  • Literature Summary
    40
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18708 NCBI Gene Model | MGI Sequence Detail 87457 C57BL/6J ±  kb
    transcript NM_001077495 RefSeq | MGI Sequence Detail 6928 ZRU/MplStud  
    polypeptide P26450 UniProt | EBI | MGI Sequence Detail 724 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 127
      Genomic 9
      cDNA 116
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-13305, MGI:2145159
    References
    more
    • Summaries
      All 382
      Developmental Gene Expression 40
      Diseases 4
      Gene Ontology 42
      Phenotypes 129
    • Earliest
      J:17845 Escobedo JA, et al., cDNA cloning of a novel 85 kd protein that has SH2 domains and regulates binding of PI3-kinase to the PDGF beta-receptor. Cell. 1991 Apr 5;65(1):75-82
    • Latest
      J:350428 Zhu K, et al., p85alpha deficiency alleviates ischemia-reperfusion injury by promoting cardiomyocyte survival. Biochim Biophys Acta Mol Basis Dis. 2024 Jun 21;1870(7):167318
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory