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LMP000277

Record overview

LMPD IDLMP000277
Gene ID10555
SpeciesHomo sapiens (Human)
Gene Name1-acylglycerol-3-phosphate O-acyltransferase 2
Gene SymbolAGPAT2
Synonyms1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta
Alternate names1-acyl-sn-glycerol-3-phosphate acyltransferase beta; 1-AGPAT 2; 1-AGP acyltransferase 2; lysophosphatidic acid acyltransferase beta; lysophosphatidic acid acyltransferase-beta; 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)
Chromosome9
Map Location9q34.3
EC Number2.3.1.51
SummaryThis gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for AGPAT2

Proteins

1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a precursor
Refseq ID:NP_006403
Protein GI:6041665
UniProt ID:O15120
mRNA ID:NM_006412
Length:278
RefSeq Status:REVIEWED
MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENMSIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQS
ILDMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGDLLPFKKGAFYLAVQAQVPIV
PVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ
 
sig_peptide: 1..23
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2551
peptide sequence: 
MELWPCLAAALLLLLLLVQLSRA

sig_peptide: 1..23
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2551
peptide sequence: 
MELWPCLAAALLLLLLLVQLSRA
 
1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b precursor
Refseq ID:NP_001012745
Protein GI:69122971
UniProt ID:O15120
mRNA ID:NM_001012727
Length:246
RefSeq Status:REVIEWED
MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENMSIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQS
ILDMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIP
TSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ