LPIN1

Lipin 1
Identifiers
Symbols LPIN1 ; PAP1
External IDs OMIM: 605518 MGI: 1891340 HomoloGene: 9266 GeneCards: LPIN1 Gene
EC number 3.1.3.4
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 23175 14245
Ensembl ENSG00000134324 ENSMUSG00000020593
UniProt Q14693 Q91ZP3
RefSeq (mRNA) NM_001261427 NM_001130412
RefSeq (protein) NP_001248356 NP_001123884
Location (UCSC) Chr 2:
11.68 – 11.83 Mb
Chr 12:
16.54 – 16.59 Mb
PubMed search

Lipin-1 is a protein that in humans is encoded by the LPIN1 gene.[1][2][3][4]

Function

Lipin-1 has phosphatidate phosphatase activity.[5][6][7]

Clinical significance

This gene 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.[4]

References

  1. Peterfy M, Phan J, Xu P, Reue K (Jan 2001). "Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin". Nat Genet 27 (1): 121–4. doi:10.1038/83685. PMID 11138012.
  2. Nagase T, Seki N, Ishikawa K, Tanaka A, Nomura N (Nov 1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
  3. Finck BN, Gropler MC, Chen Z, Leone TC, Croce MA, Harris TE, Lawrence JC Jr, Kelly DP (Sep 2006). "Lipin 1 is an inducible amplifier of the hepatic PGC-1alpha/PPARalpha regulatory pathway". Cell Metab 4 (3): 199–210. doi:10.1016/j.cmet.2006.08.005. PMID 16950137.
  4. 1 2 "Entrez Gene: LPIN1 lipin 1".
  5. Han GS, Wu WI, Carman GM (April 2006). "The Saccharomyces cerevisiae Lipin homolog is a Mg2+-dependent phosphatidate phosphatase enzyme". J. Biol. Chem. 281 (14): 9210–8. doi:10.1074/jbc.M600425200. PMC 1424669. PMID 16467296.
  6. Donkor J, Sariahmetoglu M, Dewald J, Brindley DN, Reue K (February 2007). "Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns". J. Biol. Chem. 282 (6): 3450–7. doi:10.1074/jbc.M610745200. PMID 17158099.
  7. Harris TE, Huffman TA, Chi A, Shabanowitz J, Hunt DF, Kumar A, Lawrence JC Jr. (January 2007). "Insulin controls subcellular localization and multisite phosphorylation of the phosphatidic acid phosphatase, lipin 1". J. Biol. Chem. 282 (1): 277–86. doi:10.1074/jbc.M609537200. PMID 17105729.

Further reading

This article is issued from Wikipedia - version of the Tuesday, September 01, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.