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, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their full-length structures have not been determined. [provided by RefSeq, May 2012]
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 Metabolism and mTOR signaling pathway (KEGG). 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 for LPIN1 Gene
Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity).