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FLASH GENE
Symbol PLCD1 contributors: mct - updated : 01-02-2010
HGNC name phospholipase C, delta 1
HGNC id 9060
Corresponding disease
LKN hereditary leukonychia, or porcelain nails
Location 3p22.2      Physical location : 38.048.988 - 38.071.154
Synonym name phosphoinositide phospholipase C
Synonym symbol(s) PLC-III, PLC-delta-1
EC.number 3.1.4.11
DNA
TYPE functioning gene
STRUCTURE 22.17 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
KIAA0342 3p24.2-p23 golgi reassembly stacking protein 1, 65kDa LOC389106 3 LOC389106 LOC389107 3 similar to Hsp70/Hsp90 organizing protein homolog CG2720-PA LOC389108 3 LOC389108 LOC391527 3 similar to chromosome 2 open reading frame 7 EPM2AIP1 3p22.1 EPM2A (laforin) interacting protein 1 MLH1 3p21.3 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) LRRFIP2 3p24.3-p23 leucine rich repeat (in FLII) interacting protein 2 FLJ31715 3p22.1 hypothetical protein FLJ31715 GOLGA4 3p22-p21.3 golgi autoantigen, golgin subfamily a, 4 APRG1 3p22.1 AP20 region protein ITGA9 3p21.3 integrin, alpha 9 CTDSPL 3p21.3 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like VILL 3p21.3 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like PLCD1 3p21.3 phospholipase C, delta 1 DLEC1 ACAA1 3p23-p22 acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) MYD88 3p22-p21.3 myeloid differentiation primary response gene (88) OSR1 3p22-p21.3 oxidative-stress responsive 1 SLC22A13 3p22-p21.3 solute carrier family 22 (organic cation transporter), member 13 SLC22A14 3p22-p21.3 solute carrier family 22 (organic cation transporter), member 14 XYLB 3p22-p21.3 xylulokinase homolog (H. influenzae) ACVR2B 3p22 activin A receptor, type IIB ENDOGL1 3p21.3 endonuclease G-like 1 LOC391528 3 similar to ribosomal protein L18a; 60S ribosomal protein L18a SCN5A 3p21 sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) SCN10A 3p21-p22 sodium channel, voltage-gated, type X, alpha SCN11A 3p24-p21 sodium channel, voltage-gated, type XI, alpha KIAA1449 3p21.33 WD repeat endosomal protein GORASP1 3p22-p21.33 golgi reassembly stacking protein 1, 65kDa STI2 3p21.33 TPR domain containing STI2 AXUD1 3p22 AXIN1 up-regulated 1 CMYA1 3p21.33 cardiomyopathy associated 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 2976 - 777 - 2009 19344632
15 - 2683 - 756 - 2009 19344632
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen   highly
 thymus   highly
Nervousbrain   highly
Reproductivemale systemtestis  highly
Respiratoryrespiratory tracttrachea   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a CaM-like region in its N-terminus, capable of binding directly to RAlA
  • a pleckstrin homology (PH)
  • two helical EF-hand domain
  • a catalytic domains
  • a C2 domain
  • a PI-PLC x-box domain
  • a PI-PLC y-box domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • accumulates in the nucleus when its nuclear export signal sequence is disrupted
  • an increase in the levels of intracellular Ca2+ shifts the equilibrium to the nuclear import of PLCD1
  • basic FUNCTION
  • catalyzing the hydrolysis of phosphatidylinositol 4,5 biphosphate to generate diacylglycerol and inositol 1,4,5 triphosphate
  • mediating a wide variety of cellular stimuli
  • shuttles between the nucleus and the cytoplasm, and nuclear import1 is mediated by its Ca2+-dependent interaction with importin beta1
  • plays an important suppressive role in the development and progression of ESCC (esophageal squamous cell carcinoma)
  • mediates regulatory signaling of energy metabolism, calcium homeostasis and intracellular movements
  • acts as a functional tumor suppressor involved in gastric carcinogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binds three calcium ions per subunit, two of the calcium ions are bound to the C2 domain
  • protein
  • activity of PLCD1 is controlled by the amount of bound PLCB2 that changes with displacement of the enzyme by heterotrimeric or small G proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LKN
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in esophageal squamous cell carcinoma (ESCC)
    tumoral     --other  
    ectopic expression in silenced gastric tumor cells dramatically inhibited their clonogenicity and migration
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS