Entity Details

Primary name LPIN1
Entity type gene
Source Source Link

Details

PrimaryID23175
RefseqGeneNG_012843
SymbolLPIN1
Namelipin 1
Chromosome2
Location2p25.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-01-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLPIN1_HUMAN

GO terms

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GOName
GO:0003713 transcription coactivator activity
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005741 mitochondrial outer membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006260 DNA replication
GO:0006642 triglyceride mobilization
GO:0006646 phosphatidylethanolamine biosynthetic process
GO:0006654 phosphatidic acid biosynthetic process
GO:0006656 phosphatidylcholine biosynthetic process
GO:0007077 mitotic nuclear membrane disassembly
GO:0008195 phosphatidate phosphatase activity
GO:0009062 fatty acid catabolic process
GO:0019432 triglyceride biosynthetic process
GO:0031100 animal organ regeneration
GO:0031642 negative regulation of myelination
GO:0031965 nuclear membrane
GO:0032869 cellular response to insulin stimulus
GO:0044255 cellular lipid metabolic process
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046473 phosphatidic acid metabolic process
GO:0120162 positive regulation of cold-induced thermogenesis
GO:1903730 regulation of phosphatidate phosphatase activity

Diseases

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Disease IDSourceNameDescription
268200 OMIMMyoglobinuria, acute recurrent, autosomal recessive (ARARM)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. The disease is caused by variants affecting the gene represented in this entry.