LPIN1

Lipin-1 is a protein that in humans is encoded by the LPIN1 gene.^[5][6][7][8]

LPIN1
Identifiers
Aliases	LPIN1, PAP1, lipin 1
External IDs	OMIM: 605518; MGI: 1891340; HomoloGene: 9266; GeneCards: LPIN1; OMA:LPIN1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p25.1 Start 11,677,595 bp[1] End 11,827,409 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12 A1.1|12 7.9 cM Start 16,585,670 bp[2] End 16,696,967 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm olfactory bulb buccal mucosa cell trigeminal ganglion sural nerve gastrocnemius muscle spinal ganglia right testis left testis quadriceps femoris muscle Top expressed in triceps brachii muscle muscle of thigh medial head of gastrocnemius muscle digastric muscle brown adipose tissue sternocleidomastoid muscle temporal muscle vastus lateralis muscle tibialis anterior muscle tunica adventitia of aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription coactivator activity hydrolase activity phosphatidate phosphatase activity molecular function Cellular component cytoplasm cytosol nuclear membrane nuclear envelope endoplasmic reticulum membrane membrane nucleoplasm mitochondrial outer membrane endoplasmic reticulum nucleus Biological process fatty acid catabolic process regulation of transcription, DNA-templated lipid metabolism regulation of transcription by RNA polymerase II phosphatidylethanolamine biosynthetic process transcription, DNA-templated fatty acid metabolic process mitotic nuclear membrane disassembly animal organ regeneration cellular response to insulin stimulus triglyceride biosynthetic process phosphatidylcholine biosynthetic process positive regulation of transcription by RNA polymerase II triglyceride mobilization dephosphorylation positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23175 14245 Ensembl ENSG00000134324 ENSMUSG00000020593 UniProt Q14693 Q91ZP3 RefSeq (mRNA) NM_001261427 NM_001261428 NM_001261429 NM_145693 NM_001349199 NM_001349200 NM_001349201 NM_001349202 NM_001349203 NM_001349204 NM_001349205 NM_001349206 NM_001349207 NM_001349208 NM_001130412 NM_015763 NM_172950 NM_001355598 RefSeq (protein) NP_001248356 NP_001248357 NP_663731 NP_001336128 NP_001336129 NP_001336130 NP_001336131 NP_001336132 NP_001336133 NP_001336134 NP_001336135 NP_001336136 NP_001336137 NP_001123884 NP_056578 NP_766538 NP_001342527 Location (UCSC) Chr 2: 11.68 – 11.83 Mb Chr 12: 16.59 – 16.7 Mb PubMed search [3] [4]
Wikidata
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Function

Lipin-1 has phosphatidate phosphatase activity.^[9][10][11] The nuclear localization of Lipin 1 is regulated by the mammalian Target Of Rapamycin protein kinase and links mTORC1 activity to the regulation of Sterol regulatory element-binding proteins (SREBP)-dependent gene transcription.^[12][13][14]

Clinical significance

Homozygous mutations in LPIN1 gene in humans cause recurrent rhabdomyolysis and exercise-induced myalgia while carrier state may predispose for statin-induced myopathy.^[15][16]

This gene also represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism.^[8][12]