Aliases for LPIN1 Gene
External Ids for LPIN1 Gene
Previous GeneCards Identifiers for LPIN1 Gene
This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. [provided by RefSeq, Mar 2017]
GeneCards Summary for LPIN1 Gene
LPIN1 (Lipin 1) is a Protein Coding gene. Diseases associated with LPIN1 include Myoglobinuria, Acute Recurrent, Autosomal Recessive and Genetic Recurrent Myoglobinuria. Among its related pathways are Cell Cycle, Mitotic and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and RNA polymerase II transcription factor binding. An important paralog of this gene is LPIN2.
UniProtKB/Swiss-Prot Summary for LPIN1 Gene
Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the metabolism of fatty acids at different levels (PubMed:20231281). Acts also as nuclear transcriptional coactivator for PPARGC1A/PPARA regulatory pathway to modulate lipid metabolism gene expression. Is involved in adipocyte differentiation. Isoform 1 is recruited at the mitochondrion outer membrane and is involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity).