MGP Database

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MGP003973

UniProt Annotations

Entry Information
Gene Namelipin 2
Protein EntryLPIN2_HUMAN
UniProt IDQ92539
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityA 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250};
DiseaseMajeed syndrome (MAJEEDS) [MIM:609628]: An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). {ECO:0000269|PubMed:15994876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainContains 1 Asp-Xaa-Asp-Xaa-Thr (DXDXT) motif, a catalytic motif known to be essential for phosphatidate phosphatase activity. {ECO:0000250}.
DomainContains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, a motif known to be a transcriptional binding motif. {ECO:0000250}.
Enzyme RegulationInhibited by N-ethylmaleimide. {ECO:0000250}.
FunctionPlays 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 to modulate lipid metabolism (By similarity). {ECO:0000250}.
Sequence CautionSequence=BAA13380.2; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the lipin family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}. Note=Translocates to endoplasmic reticulum membrane with increasing levels of oleate. {ECO:0000250}.
Tissue SpecificityExpressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon. {ECO:0000269|PubMed:15994876, ECO:0000269|PubMed:17158099}.
Web ResourceName=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=7";
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