Phospholipase C-Like 1

Alternative Names

  • PLCL1
  • Phospholipase C Deleted in Lung Carcinoma
  • PLCL
  • Phospholipase C-Related Catalytically Inactive Protein 1
  • PRIP1
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OMIM Number

600597

Gene Map Locus
2q33.1

Description

The PLCL1 gene encodes a protein that is similar to members of the phospholipase C family.  The PLCL1 protein is involved in intracellular signal transduction, phosphatidylinositol phospholipase C activity, gamma-aminobutyric acid signalling pathway and peptidyl-serine phosphorylation.

The deletion of the PLCL1 gene in a lung carcinoma cell line has alerted scientists to the possible role of the gene as a tumour suppressor.  Deficient expression of the gene may contribute to the genesis and progression of lung carcinoma in humans.  PLCL1 has also been implicated in several GWAS studies, linking it to variation in hip bone size, dermatomyositis and cardiovascular disease.

Molecular Genetics

The PLCL1 gene is located on the long arm of chromosome 2.  It is made up of 10 exons and spans a length of about 767 kb.  Three splice variants of PLCL1 exist. The longest variant encodes a protein product containing 1097 amino acids.  The other two splice variants encode proteins containing 1016 and 997 amino acids, respectively.  These protein isoforms vary mainly at their N-terminal ends.  PLCL1 expression has been found to be most predominant in the brain with weaker expression in the kidneys and lungs. 

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) recruited Saudi Arabian candidates to uncover genetic loci that may be associated with Coronary Artery Disease (CAD) and Myocardial Infarction (MI). Genotyping on 2668 cases and 3000 controls of Saudi origin was carried out.  Statistical analysis was performed and a p value less than 5x10-8 was considered significant while a p value less 1x10-5 was considered to be suggestive of an association.  The study revealed a suggestive association between the SNP rs7421388_G in gene PLCL1 and CAD [p=4.31E-06, OR=0.77(0.69-0.85)].  As the role of PLCL1 in CAD has not yet been elucidated, it was uncertain how this SNP exerted its effect.  

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