LPIN1

Gene Information
 
Gene Symbol
LPIN1
 
Aliases
PAP1
 
Entrez Gene ID
 
Gene Name
Lipin 1
 
Chromosomal Location
2p25.1
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
 Downstream Sequence Functional Significance References
rs11693809 GAGCTGATTTGCATTGGCTCACAAAG
C/T
TGACCACAGACCCTGCATGGGAGAC Intron variant 21448847

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0009062 Biological process Fatty acid catabolic process IBA 21873635
GO:0019432 Biological process Triglyceride biosynthetic process IBA 21873635
GO:0032869 Biological process Cellular response to insulin stimulus IBA 21873635
GO:0045944 Biological process Positive regulation of transcription by RNA polymerase II IBA 21873635
GO:0120162 Biological process Positive regulation of cold-induced thermogenesis ISS 23028044
Protein Information
 
Protein Name
Phosphatidate phosphatase LPIN1
 
Function
Plays important roles in controlling the metabolism of fatty acids at different 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
 
Refseq Proteins
 
UniProt
Pathways
 
KEGG
 
Reactome
 

Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
mTOR signaling pathway

  

Synthesis of PC
Synthesis of PE
Depolymerisation of the Nuclear Lamina
Triglyceride biosynthesis
Interactions
 
STRING MINT IntAct
ENSP00000389814 Q15848
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Musculoskeletal Diseases
Myoglobinuria
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Peroxisome proliferator-activated receptor gamma, lipoprotein lipase, hormone-sensitive lipase, adiponectin and glucose transporter 4 in subcutaneous and visceral adipose tissue 
Obesity and Insulin resistance 
 
  
Related 
85 PCOS patients and 44 controls 
 Lipin 1beta appears to be involved in the pathogenesis of IR in PCOS. 
IR 
Cardiometabolic complications 
rs11693809 (intron 1 SNP) and rs2716610 (intron 17 SNP) 
  
Related 
222 PCOS patients and 149 controls 
 Genotype and allele frequencies were similar between PCOS patients and controls for both SNPs. Our results show that, in PCOS patients, intron 1 SNP is protective against IR and glucose intolerance suggesting that lipin 1 variation could be one of the genetic factors in cardiometabolic complications of PCOS. 
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