Homo sapiens Protein: LPIN1 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-30222.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | LPIN1 | ||||||||||||||||||||||||
Protein Name | lipin 1 | ||||||||||||||||||||||||
Synonyms | PAP1; | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000256720 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-30220 (LPIN1) | ||||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||||
Function | 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). {ECO:0000250}. | ||||||||||||||||||||||||
Subcellular Localization | Nucleus membrane {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}. | ||||||||||||||||||||||||
Disease Associations | Myoglobinuria, acute recurrent, autosomal recessive (ARARM) [MIM:268200]: Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. {ECO:0000269PubMed:18817903}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||
Tissue Specificity | Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract. {ECO:0000269PubMed:17158099, ECO:0000269PubMed:22134922}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR007651
Lipin, N-terminal IPR013209 LNS2, Lipin/Ned1/Smp2 IPR017986 WD40-repeat-containing domain IPR023214 HAD-like domain |
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PFAM |
PF04571
PF08235 PF00702 PF08282 PF13419 |
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PRINTS | |||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||
SMART |
SM00775
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | Q14693 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14693 | ||||||||||||||||||||||||
TrEMBL | C9J278 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 23175 | ||||||||||||||||||||||||
UniGene | Hs.695105 | ||||||||||||||||||||||||
RefSeq | NP_663731 | ||||||||||||||||||||||||
HUGO | HGNC:13345 | ||||||||||||||||||||||||
OMIM | 605518 | ||||||||||||||||||||||||
CCDS | CCDS1682 | ||||||||||||||||||||||||
HPRD | 09271 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC012456 AC106875 AK290235 AK293787 AK294742 AK294853 AK302922 BC018071 BC030537 CH471053 D80010 | ||||||||||||||||||||||||
GenPept | AAH30537 AAY14695 BAA11505 BAF82924 BAG57200 BAG57885 BAG57957 BAH13844 EAX00918 EAX00920 | ||||||||||||||||||||||||