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Protein Coding Gene : Pik3r1 phosphoinositide-3-kinase regulatory subunit 1

Primary Identifier  MGI:97583 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  18708
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables several functions, including insulin receptor substrate binding activity; kinase regulator activity; and phosphatidylinositol 3-kinase regulatory subunit binding activity. Involved in several processes, including cell surface receptor protein tyrosine kinase signaling pathway; negative regulation of stress fiber assembly; and positive regulation of cellular component organization. Acts upstream of or within several processes, including apoptotic signaling pathway; negative regulation of osteoclast differentiation; and positive regulation of tumor necrosis factor production. Located in several cellular components, including cell-cell junction; cis-Golgi network; and perinuclear endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and integumental system. Used to study SHORT syndrome and X-linked agammaglobulinemia. 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).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-13305,
  • p85alpha,
  • AA414921,
  • Pik3r1,
  • MGI:2145159,
  • p50alpha,
  • phosphoinositide-3-kinase regulatory subunit 1,
  • PI3K,
  • p55alpha,
  • expressed sequence AA414921

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Genome

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

113 Pathways

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Expression

Gene --> Expression annotations

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Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

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