PLCG1

                                                                     (Phospholipase C, gamma 1)

  • Alias                                 (According to NCBI)

 

  • 1-phosphatidyl-D-myo-inositol-4,5-bisphosphate
  • PLC-II
  • PLC-gamma-1
  • PLC1
  • PLC148 
  • PLCgamma1
  • inositoltrisphosphohydrolase
  • 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1
  • monophosphatidylinositol phosphodiesterase 
  • phosphatidylinositol phospholipase C 
  • phosphoinositidase C 
  • phosphoinositide phospholipase C
  • phospholipase C, gamma 1
  • phospholipase C, gamma 1 (formerly subtype 148)
  • phospholipase C-148 
  • triphosphoinositide phosphodiesterase
  • 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma 1 (EC 3.1.4.11) (Phosphoinositide phospholipase C) (PLC-gamma-1) (Phospholipase C-gamma-1) (PLC-II) (PLC-148)
  • The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase.

  • Location: 20q12-q13.1
  • Orientation: Plus strand
  • Size: 38,196 bases
  • 32 Exons
  • DNA Sequence: NT_011362

  • CGH (20q12-13):  Losses (%) - 1.7   Gain (%)  19.0  

  • Mutations and SNPs (According to HGMD and SNP)
  • HGMD:
  • m-RNA                       (According to NCBI and CGAP)

 

  • Size:1290 amino acids; 148531 Da
  • Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = D-myo-inositol 1,4,5-trisphosphate + diacylglycerol
  • Protein domains:

                                                            

  • Pathways and interactions (According to BioCarta, DIP)
  • Clinical                            (According to OMIM, PubMed)