BAIT

LPIN1

PAP1
lipin 1
Homo sapiens
PREY

PAH1

SMP2, phosphatidate phosphatase PAH1, L000001934, YMR165C
Mg2+-dependent phosphatidate (PA) phosphatase; dephosphorylates PA to yield diacylglycerol; responsible for de novo lipid synthesis and formation of lipid droplets; phosphorylation by Pho80p-Pho85p decreases catalytic activity and alters Pah1p localization and abundance; phosphorylation by protein kinase A decreases catalytic efficiency; dephosphorylation by Nem1p-Spo7p anchors Pah1p to the membrane increasing substrate catalysis; homologous to mammalian lipins 1 and 2
Saccharomyces cerevisiae (S288c)

Dosage Rescue

A genetic interaction is inferred when over expression or increased dosage of one gene rescues the lethality or growth defect of a strain that is mutated or deleted for another gene.

Publication

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.

Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Mueller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P

Autosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate the prevalence of LPIN1 mutations in patients exhibiting severe episodes of rhabdomyolysis in infancy. After exclusion of primary fatty acid oxidation disorders, LPIN1 coding sequence was determined in genomic DNA and cDNA. Among the ... [more]

Hum. Mutat. Jul. 01, 2010; 31(7);E1564-73 [Pubmed: 20583302]

Throughput

  • Low Throughput

Ontology Terms

  • phenotype: growth in exponential phase (APO:0000310)
  • phenotype: temperature sensitive growth (APO:0000092)

Curated By

  • BioGRID