Sequence in raw or FASTA format:
Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.
| RefSeq Version | NM_006412.3, 68835055 |
| Length | 1576 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA. |
| Product | 1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform a |
| Comment | Summary: This 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). |
| RefSeq | NP_006403.2 |
| CDS | 103..939 | Exon (1) | 1..284 | Exon (2) | 1..284 | Exon (3) | 285..418 | Exon (4) | 419..594 | Exon (5) | 595..690 | Exon (6) | 691..763 | Exon (7) | 764..1548 |
| Translation | MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENM
SIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAK
RELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGD
LLPFKKGAFYLAVQAQVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAAD
VPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ
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| Position | Chain | Variation | Link |
| complement(139..140) | - | , gca | dbSNP:77891680 |
| 304 | + | c, t | dbSNP:104894093 |
| complement(447) | - | g, a | dbSNP:73668354 |
| complement(461) | - | t, c | dbSNP:114782902 |
| complement(535) | - | t, g | dbSNP:55755415 |
| 672 | + | a, c | dbSNP:121908926 |
| complement(700) | - | c, a | dbSNP:17855341 |
| 745 | + | a, t | dbSNP:121908925 |
| 785 | + | c, t | dbSNP:104894100 |
| complement(804) | - | g, a | dbSNP:116951119 |
| 823 | + | g, t | dbSNP:11545228 |
| complement(843) | - | g, a | dbSNP:117434864 |
| 890 | + | c, t | dbSNP:17848858 |
| complement(1018) | - | g, c | dbSNP:112657922 |
| complement(1096) | - | g, a | dbSNP:4880119 |
| complement(1147..1148) | - | , agcccg | dbSNP:72437991 |
| complement(1147) | - | g, a | dbSNP:55754159 |
| complement(1148..1149) | - | , agcccg | dbSNP:78572213 |
| complement(1155..1156) | - | , cgagcc | dbSNP:71675070 |
| complement(1175) | - | g, a | dbSNP:117979028 |
| complement(1178) | - | t, c | dbSNP:56310643 |
| complement(1304) | - | g, a | dbSNP:113127797 |
| 1381 | + | c, g | dbSNP:6951 |
| 1456 | + | c, t | dbSNP:10320 |
| 1502 | + | a, c | dbSNP:1061994 |
| complement(1525..1526) | - | , a | dbSNP:112492508 |
| Gene Symbol | AGPAT2 |
| Gene Synonym | 1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta |
| Chromosome | 9 |
| Locus Map | 9q34.3 |
| All Transcripts | NM_006412 , NM_001012727 |
| Title | Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome . |
| Author | Miranda,D.M., Wajchenberg,B.L., Calsolari,M.R., Aguiar,M.J., Silva,J.M., Ribeiro,M.G., Fonseca,C., Amaral,D., Boson,W.L., Resende,B.A. and De Marco,L. |
| Journal | Clin. Endocrinol. (Oxf) 71 (4), 512-517 (2009) |
| Title | Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy . |
| Author | Boutet,E., El Mourabit,H., Prot,M., Nemani,M., Khallouf,E., Colard,O., Maurice,M., Durand-Schneider,A.M., Chretien,Y., Gres,S., Wolf,C., Saulnier-Blache,J.S., Capeau,J. and Magre,J. |
| Journal | Biochimie 91 (6), 796-803 (2009) |
| Title | Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability . |
| Author | Simha,V., Agarwal,A.K., Aronin,P.A., Iannaccone,S.T. and Garg,A. |
| Journal | Am. J. Med. Genet. A 146A (18), 2318-2326 (2008) |
| Title | Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome . |
| Author | Solanki,M., Patil,S.S., Baweja,D.K., Noorani,H. and Pk,S. |
| Journal | Oral Surg Oral Med Oral Pathol Oral Radiol Endod 105 (1), E41-E47 (2008) |
| Title | Sustained elevations in NEFA induce cyclooxygenase-2 activity and potentiate THP-1 macrophage foam cell formation . |
| Author | Lloyd,E.E., Gaubatz,J.W., Burns,A.R. and Pownall,H.J. |
| Journal | Atherosclerosis 192 (1), 49-55 (2007) |
| Title | Characterization of a human lysophosphatidic acid acyltransferase that is encoded by a gene located in the class III region of the human major histocompatibility complex . |
| Author | Aguado,B. and Campbell,R.D. |
| Journal | J. Biol. Chem. 273 (7), 4096-4105 (1998) |
| Title | A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases . |
| Author | Stamps,A.C., Elmore,M.A., Hill,M.E., Kelly,K., Makda,A.A. and Finnen,M.J. |
| Journal | Biochem. J. 326 (PT 2), 455-461 (1997) |
| Title | Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3 . |
| Author | Eberhardt,C., Gray,P.W. and Tjoelker,L.W. |
| Journal | J. Biol. Chem. 272 (32), 20299-20305 (1997) |
| Title | Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells . |
| Author | West,J., Tompkins,C.K., Balantac,N., Nudelman,E., Meengs,B., White,T., Bursten,S., Coleman,J., Kumar,A., Singer,J.W. and Leung,D.W. |
| Journal | DNA Cell Biol. 16 (6), 691-701 (1997) |
| Title | Biosynthesis of triacylglycerols . |
| Author | Lehner,R. and Kuksis,A. |
| Journal | Prog. Lipid Res. 35 (2), 169-201 (1996) |
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