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FLASH GENE
Symbol PLCL1 contributors: mct - updated : 12-01-2017
HGNC name phospholipase C like 1 (inactive)
HGNC id 9063
Location 2q33.1      Physical location : 198.669.425 - 199.014.606
Synonym name
  • phospholipase C, epsilon
  • phospholipase C-related but catalytically inactive protein
  • protein phosphatase 1, regulatory subunit 127
  • Synonym symbol(s) PLCL, PLCE, PLC-L, PLDL1, MGC126580, MGC138190, PRIP-1, PLCL, PPP1R127, PRIP
    DNA
    TYPE functioning gene
    STRUCTURE 345.18 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • GC-rich region in the promoter
  • MAZ binding sites
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing - - 1016 - 2006 1695242
  • longest transcript containing 8 exons
  • exons 1 & 2 on 5'UTR
  • start codon in exon 3
  • - splicing - - 997 - 2006 1695242
  • transcript containing 7 exons
  • lacking of exon 3
  • start codon in exon 4
  • exons 1 & 2 on 5'UTR
  • shortest product
  • 6 splicing 6608 - 1095 - 2006 1695242
  • shortest transcript containing 6 exons
  • lacking of exons 2 & 3
  • start codon in exon 1
  • longest product
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly
    Urinarykidney   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Ca2+ binding motif
  • Phospholipase C catalytic domain (PLCc)
  • HOMOLOGY
    interspecies homolog to rattus Plcl1 (94,78 pc)
    Homologene
    FAMILY
    CATEGORY protooncogene , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • phospholipase C,epsilon,phosphatidylinositol specific
  • through gonadotropin secretion, PRIP plays an important role in female reproduction
  • catalyzing the hydrolysis of phosphatidylinositol 4,5 biphosphate to generate diacylglycerol and inositol 1,4,5 triphosphate mediating a wide variety of cellular stimuli
  • implicated in the negative regulation of bone formation
  • involved in the regulation of the phospho-states of SNAP-25 by modulating the activity of PP1, thus regulating exocytosis
  • PLCL1 and GABARAP function in a complex to regulate KIF5B-mediated insulin secretion, providing new insights into insulin exocytic mechanisms
  • is a multifaceted P4-inducible scaffold protein that gates the activity of major signal transduction pathways in the endometrium.
  • PLCL1, PLCL2, are likely positively involved in the development of follicles via their regulation of LH-LHR signaling and estradiol secretion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • inhibits likely regulated exocytosis through the interaction of its C2 domain with STX1A and SNAP25, potentially competing with other SNARE-binding, C2 domain-containing accessory proteins such as SYT1 and by directly inhibiting trans-SNARE complex formation
  • PLCL1- deficiency impairs osteoclast differentiation, particularly at the early stages, and PLCL1 stimulates osteoclast differentiation through calcium-calcineurin-NFATC1 signaling via regulating intracellular Ca2
  • cell & other
    REGULATION
    induced by MAZ (MAZ is involved in its expression and regulation)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation deletion    
    deleted in small cell lung carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS