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FLASH GENE
Symbol PIK3R4 contributors: npt/mct - updated : 30-08-2017
HGNC name phosphoinositide-3-kinase, regulatory subunit 4
HGNC id 8982
Location 3q22.1      Physical location : 130.397.778 - 130.465.696
Synonym name
  • vacuolar protein sorting 15 (yeast)
  • phosphoinositide-3-kinase, regulatory subunit 4, p150
  • PI3-kinase regulatory subunit 4
  • PI3-kinase p150 subunit
    • Synonym symbol(s) VPS15, p150, MGC102700
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 67.92 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    FLJ12057 3q21.3 hypothetical protein FLJ12057 GP9 3q21 glycoprotein IX (platelet) LOC339122 KIAA1160 3q21.3 KIAA1160 protein ZNF9 3p13.3-q24 zinc finger protein 9 (a cellular retroviral nucleic acid binding protein) COPG 3q21.3 coatomer protein complex, subunit gamma DC12 3q21.3 DC12 protein H1FX 3q21.3 H1 histone family, member X LOC90288 3q21.3 hypothetical protein LOC90288 MBD4 3q21-q22 methyl-CpG binding domain protein 4 WDR10 3q21 WD repeat domain 10 RHO 3q21.3-q24 rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) H1FOO 3q21.3 H1 histone family, member O, oocyte-specific PLXND1 3q21.3 plexin D1 KIAA0779 3q21.3 plexin D1 TRH 3q13.3-q21 thyrotropin-releasing hormone LOC391576 3 hypothetical gene supported by AK122996 LOC285407 3q21.3 similar to mannosyltransferase LOC339944 3q21.3 similar to hypothetical protein FLJ10661 LOC389148 3 LOC389148 FLJ35880 3q22.1 hypothetical protein FLJ35880 LOC131873 3q22.1 hypothetical protein LOC131873 PIK3R4 3q22.1 phosphoinositide-3-kinase, regulatory subunit 4, p150 GSTO3P1 3q22.1 glutathione S-transferase omega 3 pseudogene 1 ATP2C1 3q21 ATPase, Ca++ transporting, type 2C, member 1 HT001 3q22.1 HT001 protein NEK11 3q21.3 NIMA (never in mitosis gene a)- related kinase 11 LOC152195 3q22.1 hypothetical protein LOC152195 LOC389149 3 LOC389149 FLJ31265 3q22.1 hypothetical protein FLJ31265 MRPL3 3q21.2-q23 mitochondrial ribosomal protein L3 CPNE4 3q22.1 copine IV LOC344568 3q22.1 similar to proteasome (prosome, macropain) 26S subunit, ATPase 2; Proteasome (prosome, macropain) 26S subunit, ATPase LOC391577 3 similar to ribosomal protein L7
    RNA
    TRANSCRIPTS type messenger
    text one putative transcript lacking twelve 5' exons
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 5078 - 1358 - 2003 12660731
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text pancreas
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast Vps15
    Homologene
    FAMILY
  • protein kinase superfamily
  • Ser/Thr protein kinase family
    • CATEGORY enzyme , receptor membrane , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,nuclear envelope,pore
    text localization to the Golgi
    basic FUNCTION
  • involved protein trafficking
  • protein serine/threonine kinase activity
  • phosphatidylinositol 3-kinase class III sub-complex containing PIK3R4, PIK3C3, BECN1, UVRAG and SH3GLB1 regulates cytokinesis and degradative endocytic traffic
  • activity of the PIK3C3/PIK3R4 complex is critical in disease conditions such as autophagic vacuolar myopathy (AVM), and possibly a variety of other lysosomal storage diseases
  • regulates primary cilium length in human fibroblasts
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text diversion of proteins from the secretory pathway to vacuoles
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • complex with PIK3C3
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PIK3C3
  • PIK3R4 interaction with the golgin GoLGA2
  • at the Golgi, PIK3R4 and GOLGA2 form a protein complex devoid of PIK3C3 to ensure the IFT20-dependent sorting and transport of membrane proteins from the cis-Golgi to the primary cilium
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in a family with a ciliopathy phenotype
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Vps15 in skeletal muscles, develop a severe myopathy