Predicate | Object |
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rdf:type | |
biopax3:comment |
FUNCTION: Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. CATALYTIC ACTIVITY: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. PATHWAY: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15120-1; Sequence=Displayed; Name=2; IsoId=O15120-2; Sequence=VSP_005071; Note=No experimental confirmation available; TISSUE SPECIFICITY: Expressed predominantly in heart and liver. DOMAIN: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate (By similarity). DISEASE: Defects in AGPAT2 are the cause of congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]; also known as Berardinelli-Seip congenital lipodystrophy type 1 (BSCL1) or Berardinelli-Seip syndrome. CGL1 is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. SIMILARITY: Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGPAT2"; GENE SYNONYMS:AGPAT2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 278 AA; 30914 MW; 1E58F537F703BE9F CRC64;
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biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:325,
urn:biopax:RelationshipXref:NCBI GENE_10555,
urn:biopax:RelationshipXref:REFSEQ_NP_001012745,
urn:biopax:RelationshipXref:REFSEQ_NP_006403,
urn:biopax:UnificationXref:UNIPROT_O00516,
urn:biopax:UnificationXref:UNIPROT_O15106,
urn:biopax:UnificationXref:UNIPROT_O15120,
urn:biopax:UnificationXref:UNIPROT_Q5VUD3,
urn:biopax:UnificationXref:UNIPROT_Q5VUD4,
urn:biopax:UnificationXref:UNIPROT_Q9BSV7,
urn:biopax:UnificationXref:UNIPROT_Q9BWR7
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biopax3:displayName |
PLCB_HUMAN
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biopax3:name |
1-AGP acyltransferase 2,
1-AGPAT 2,
1-acylglycerol-3-phosphate O-acyltransferase 2,
2.3.1.51,
AGPAT2,
LPAAT-beta,
Lysophosphatidic acid acyltransferase beta
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biopax3:entityFeature | |
biopax3:organism | |
biopax3:sequence |
MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENMSIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGDLLPFKKGAFYLAVQAQVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ
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biopax3:standardName |
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
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