2024-04-27 05:43:17, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001012727 1480 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), transcript variant 2, mRNA. ACCESSION NM_001012727 VERSION NM_001012727.1 GI:69122970 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1480) AUTHORS Haghighi,A., Razzaghy-Azar,M., Talea,A., Sadeghian,M., Ellard,S. and Haghighi,A. TITLE Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1 JOURNAL Eur J Med Genet 55 (11), 620-624 (2012) PUBMED 22902344 REMARK GeneRIF: novel nonsense a missense mutations were found in two patients with congenital generalized lipodystrophy type 1. REFERENCE 2 (bases 1 to 1480) AUTHORS Subauste,A.R., Das,A.K., Li,X., Elliott,B.G., Evans,C., El Azzouny,M., Treutelaar,M., Oral,E., Leff,T. and Burant,C.F. TITLE Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations JOURNAL Diabetes 61 (11), 2922-2931 (2012) PUBMED 22872237 REMARK GeneRIF: Data suggest that AGPAT2 regulates adipogenesis through modulation of lipid metabolism/signal transduction, altering normal activation of phosphatidylinositol 3-kinase (PI3K)/protooncogene c-Akt and PPARgamma signaling in early stage of adipogenesis. Erratum:[Diabetes. 2013 Mar;62(3):998. Elliot, Brandon [corrected to Elliott, Brandon G]] REFERENCE 3 (bases 1 to 1480) AUTHORS Agarwal,A.K., Sukumaran,S., Cortes,V.A., Tunison,K., Mizrachi,D., Sankella,S., Gerard,R.D., Horton,J.D. and Garg,A. TITLE Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice JOURNAL J. Biol. Chem. 286 (43), 37676-37691 (2011) PUBMED 21873652 REMARK GeneRIF: the role of AGPAT1 or AGPAT2 in liver lipogenesis is minimal and that accumulation of liver fat is primarily a consequence of insulin resistance REFERENCE 4 (bases 1 to 1480) AUTHORS Zhan,R., Huang,H.B., Wu,S.Q. and Lin,J. TITLE [Lysophosphatidic acid acyltransferase beta gene expression in newly diagnosed leukemia patients] JOURNAL Zhongguo Shi Yan Xue Ye Xue Za Zhi 18 (6), 1422-1426 (2010) PUBMED 21176343 REMARK GeneRIF: lpaat beta gene overexpression exists in both AML and CML patients. lpaat beta produced by AML cells probably plays an important role in abnormal proliferation and drug-resistance of AML cells. REFERENCE 5 (bases 1 to 1480) AUTHORS Rastegar,F., Gao,J.L., Shenaq,D., Luo,Q., Shi,Q., Kim,S.H., Jiang,W., Wagner,E.R., Huang,E., Gao,Y., Shen,J., Yang,K., He,B.C., Chen,L., Zuo,G.W., Luo,J., Luo,X., Bi,Y., Liu,X., Li,M., Hu,N., Wang,L., Luther,G., Luu,H.H., Haydon,R.C. and He,T.C. TITLE Lysophosphatidic acid acyltransferase beta (LPAATbeta) promotes the tumor growth of human osteosarcoma JOURNAL PLoS ONE 5 (12), E14182 (2010) PUBMED 21152068 REMARK GeneRIF: Lysophosphatidic acid acyltransferase beta (LPAATbeta) promotes the tumor growth of human osteosarcoma Publication Status: Online-Only REFERENCE 6 (bases 1 to 1480) AUTHORS Aguado,B. and Campbell,R.D. 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 JOURNAL J. Biol. Chem. 273 (7), 4096-4105 (1998) PUBMED 9461603 REFERENCE 7 (bases 1 to 1480) AUTHORS Stamps,A.C., Elmore,M.A., Hill,M.E., Kelly,K., Makda,A.A. and Finnen,M.J. TITLE A human cDNA sequence with homology to non-mammalian lysophosphatidic acid acyltransferases JOURNAL Biochem. J. 326 (PT 2), 455-461 (1997) PUBMED 9291118 REFERENCE 8 (bases 1 to 1480) AUTHORS Eberhardt,C., Gray,P.W. and Tjoelker,L.W. TITLE Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3 JOURNAL J. Biol. Chem. 272 (32), 20299-20305 (1997) PUBMED 9242711 REFERENCE 9 (bases 1 to 1480) AUTHORS 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. TITLE Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells JOURNAL DNA Cell Biol. 16 (6), 691-701 (1997) PUBMED 9212163 REFERENCE 10 (bases 1 to 1480) AUTHORS Lehner,R. and Kuksis,A. TITLE Biosynthesis of triacylglycerols JOURNAL Prog. Lipid Res. 35 (2), 169-201 (1996) PUBMED 8944226 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BF347518.1, CN407343.1, BC004529.2, AL590226.23 and BC000026.2. 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, Jul 2008]. Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC004529.2, BG281349.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025087 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-3 BF347518.1 1-3 4-66 CN407343.1 4-66 67-999 BC004529.2 1-933 1000-1436 AL590226.23 99211-99647 c 1437-1480 BC000026.2 1476-1519 FEATURES Location/Qualifiers source 1..1480 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="9" /map="9q34.3" gene 1..1480 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /note="1-acylglycerol-3-phosphate O-acyltransferase 2" /db_xref="GeneID:10555" /db_xref="HGNC:325" /db_xref="HPRD:04373" /db_xref="MIM:603100" exon 1..284 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /inference="alignment:Splign:1.39.8" misc_feature 31..33 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /note="upstream in-frame stop codon" CDS 103..843 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /EC_number="2.3.1.51" /note="isoform b precursor is encoded by transcript variant 2; lysophosphatidic acid acyltransferase-beta; 1-AGP acyltransferase 2; 1-acyl-sn-glycerol-3-phosphate acyltransferase beta; 1-AGPAT 2; lysophosphatidic acid acyltransferase beta; 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)" /codon_start=1 /product="1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b precursor" /protein_id="NP_001012745.1" /db_xref="GI:69122971" /db_xref="CCDS:CCDS35181.1" /db_xref="GeneID:10555" /db_xref="HGNC:325" /db_xref="HPRD:04373" /db_xref="MIM:603100" /translation="
MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENMSIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ
" sig_peptide 103..171 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 178..>564 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /note="1-acyl-sn-glycerol-3-phosphate acyltransferase [Lipid metabolism]; Region: PlsC; COG0204" /db_xref="CDD:30553" misc_feature 301..753 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /note="Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like; Region: LPLAT_AGPAT-like; cd07989" /db_xref="CDD:153251" misc_feature order(394..396,403..405,409..411,457..468) /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /note="putative acyl-acceptor binding pocket; other site" /db_xref="CDD:153251" exon 285..418 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /inference="alignment:Splign:1.39.8" exon 419..594 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /inference="alignment:Splign:1.39.8" exon 595..667 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /inference="alignment:Splign:1.39.8" exon 668..1452 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /inference="alignment:Splign:1.39.8" STS 669..1450 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /standard_name="AGPAT2_9138" /db_xref="UniSTS:471339" variation 727 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:11545228" variation 794 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /replace="c" /replace="t" /db_xref="dbSNP:17848858" STS 1269..1410 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /standard_name="RH41872" /db_xref="UniSTS:86338" variation 1285 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /replace="c" /replace="g" /db_xref="dbSNP:6951" variation 1360 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /replace="c" /replace="t" /db_xref="dbSNP:10320" variation 1406 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" /replace="a" /replace="c" /db_xref="dbSNP:1061994" polyA_site 1452 /gene="AGPAT2" /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta" ORIGIN
ccagccccgccgccctcgcaataaggggcctgagcgcgcgggggagaagcgggagcgggagcgggagcgagctggcggcgccgtcgggcgccgggccgggccatggagctgtggccgtgtctggccgcggcgctgctgttgctgctgctgctggtgcagctgagccgcgcggccgagttctacgccaaggtcgccctgtactgcgcgctgtgcttcacggtgtccgccgtggcctcgctcgtctgcctgctgcgccacggcggccggacggtggagaacatgagcatcatcggctggttcgtgcgaagcttcaagtacttttacgggctccgcttcgaggtgcgggacccgcgcaggctgcaggaggcccgtccctgtgtcatcgtctccaaccaccagagcatcctggacatgatgggcctcatggaggtccttccggagcgctgcgtgcagatcgccaagcgggagctgctcttcctggggcccgtgggcctcatcatgtacctcgggggcgtcttcttcatcaaccggcagcgctctagcactgccatgacagtgatggccgacctgggcgagcgcatggtcagggagaacgtgcccatcgtccccgtggtgtactcttccttctcctccttctacaacaccaagaagaagttcttcacttcaggaacagtcacagtgcaggtgctggaagccatccccaccagcggcctcactgcggcggacgtccctgcgctcgtggacacctgccaccgggccatgaggaccaccttcctccacatctccaagaccccccaggagaacggggccactgcggggtctggcgtgcagccggcccagtagcccagaccacggcagggcatgacctggggagggcaggtggaagccgatggctggaggatgggcagaggggactcctcccggcttccaaataccactctgtccggctcccccagctctcactcagcccgggaagcaggaagccccttctgtcactggcctcagacacaggcccctggtgtcccctgcagggggctcagctggaccctccccgggctcgagggcagggactcgcgcccacggcacctctgggagctgggatgataaagatgaggcttgcggctgtggcccgctggtgggctgagccacaaggcccccgatggcccaggagcagatgggaggaccccgaggccagacgcacactgtccgagccctctgctcagccgcctgggacccaccagggtgcagctgggctccagggtccagcccacaagctgcatcaggctctctgggagaggaggggcctggagggccaggagtcccagactcacgcaccctgggccacagggagccgggaatcggggcctgctgctcctgctggcctggaagactctgtggggtcagcactgtactccgttgctgtttttttataaacacactcttggaagtggcaaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10555 -> Molecular function: GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity] evidence: IGI GeneID:10555 -> Molecular function: GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity] evidence: NAS GeneID:10555 -> Biological process: GO:0001819 [positive regulation of cytokine production] evidence: IMP GeneID:10555 -> Biological process: GO:0001961 [positive regulation of cytokine-mediated signaling pathway] evidence: IC GeneID:10555 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: NAS GeneID:10555 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: TAS GeneID:10555 -> Biological process: GO:0006654 [phosphatidic acid biosynthetic process] evidence: IGI GeneID:10555 -> Biological process: GO:0006654 [phosphatidic acid biosynthetic process] evidence: TAS GeneID:10555 -> Biological process: GO:0016024 [CDP-diacylglycerol biosynthetic process] evidence: IEA GeneID:10555 -> Biological process: GO:0019432 [triglyceride biosynthetic process] evidence: TAS GeneID:10555 -> Biological process: GO:0044255 [cellular lipid metabolic process] evidence: TAS GeneID:10555 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:10555 -> Biological process: GO:0046474 [glycerophospholipid biosynthetic process] evidence: TAS GeneID:10555 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: ISS GeneID:10555 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS GeneID:10555 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_001012745 -> EC 2.3.1.51
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