2024-04-26 23:40:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032741 2044 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (AGPAT1), transcript variant 2, mRNA. ACCESSION NM_032741 VERSION NM_032741.4 GI:301336167 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 2044) AUTHORS Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M., Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C., King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D., Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr., Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M., Ferrucci,L., Fornage,M. and Mozaffarian,D. TITLE Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium JOURNAL Circ Cardiovasc Genet 6 (2), 171-183 (2013) PUBMED 23362303 REFERENCE 2 (bases 1 to 2044) AUTHORS Demirkan,A., van Duijn,C.M., Ugocsai,P., Isaacs,A., Pramstaller,P.P., Liebisch,G., Wilson,J.F., Johansson,A., Rudan,I., Aulchenko,Y.S., Kirichenko,A.V., Janssens,A.C., Jansen,R.C., Gnewuch,C., Domingues,F.S., Pattaro,C., Wild,S.H., Jonasson,I., Polasek,O., Zorkoltseva,I.V., Hofman,A., Karssen,L.C., Struchalin,M., Floyd,J., Igl,W., Biloglav,Z., Broer,L., Pfeufer,A., Pichler,I., Campbell,S., Zaboli,G., Kolcic,I., Rivadeneira,F., Huffman,J., Hastie,N.D., Uitterlinden,A., Franke,L., Franklin,C.S., Vitart,V., Nelson,C.P., Preuss,M., Bis,J.C., O'Donnell,C.J., Franceschini,N., Witteman,J.C., Axenovich,T., Oostra,B.A., Meitinger,T., Hicks,A.A., Hayward,C., Wright,A.F., Gyllensten,U., Campbell,H. and Schmitz,G. CONSRTM DIAGRAM Consortium; CARDIoGRAM Consortium; CHARGE Consortium; EUROSPAN consortium TITLE Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations JOURNAL PLoS Genet. 8 (2), E1002490 (2012) PUBMED 22359512 REFERENCE 3 (bases 1 to 2044) AUTHORS Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A., Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A., Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G., Harley,J.B., Gaffney,P.M. and Criswell,L.A. TITLE High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions JOURNAL PLoS Genet. 5 (10), E1000696 (2009) PUBMED 19851445 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 2044) AUTHORS McKinnon,E., Morahan,G., Nolan,D. and James,I. CONSRTM Diabetes Genetics Consortium TITLE Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach JOURNAL Diabetes Obes Metab 11 (SUPPL 1), 92-100 (2009) PUBMED 19143821 REMARK GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) REFERENCE 5 (bases 1 to 2044) AUTHORS Yamashita,A., Nakanishi,H., Suzuki,H., Kamata,R., Tanaka,K., Waku,K. and Sugiura,T. TITLE Topology of acyltransferase motifs and substrate specificity and accessibility in 1-acyl-sn-glycero-3-phosphate acyltransferase 1 JOURNAL Biochim. Biophys. Acta 1771 (9), 1202-1215 (2007) PUBMED 17707131 REMARK GeneRIF: Results suggest that motifs II and III of 1-acyl-sn-glycero-3-phosphate acyltransferase 1 are involved in lysophosphatidic acid binding, and motifs I and IV are involved in acyl-CoA binding. REFERENCE 6 (bases 1 to 2044) 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 2044) AUTHORS Aguado,B. and Campbell,R.D. TITLE Human lysophosphatidic acid acyltransferase is encoded by a gene located in the major histocompatibility complex JOURNAL Biochem. Soc. Trans. 25 (4), S597 (1997) PUBMED 9450025 REFERENCE 8 (bases 1 to 2044) 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 9 (bases 1 to 2044) 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 2044) 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 DB118884.1, BC002402.2, BM763275.1 and AI193422.1. On Jul 27, 2010 this sequence version replaced gi:26787963. Summary: This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. 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 :: BC002402.2, AL519936.3 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-46 DB118884.1 2-47 47-1477 BC002402.2 1-1431 1478-1896 BM763275.1 261-679 1897-2044 AI193422.1 1-148 c FEATURES Location/Qualifiers source 1..2044 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..2044 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /note="1-acylglycerol-3-phosphate O-acyltransferase 1" /db_xref="GeneID:10554" /db_xref="HGNC:324" /db_xref="HPRD:04372" /db_xref="MIM:603099" exon 1..111 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" misc_feature 109..111 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /note="upstream in-frame stop codon" exon 112..320 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" CDS 121..972 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /EC_number="2.3.1.51" /note="lysophosphatidic acid acyltransferase alpha; 1-AGP acyltransferase 1; lysophospholipid acyltransferase; 1-acylglycerol-3-phosphate O-acyltransferase 1 (acetoacetly Coenzyme A thiolase); 1-AGPAT 1; 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)" /codon_start=1 /product="1-acyl-sn-glycerol-3-phosphate acyltransferase alpha" /protein_id="NP_116130.2" /db_xref="GI:15100175" /db_xref="CCDS:CCDS4744.1" /db_xref="GeneID:10554" /db_xref="HGNC:324" /db_xref="HPRD:04372" /db_xref="MIM:603099" /translation="
MDLWPGAWMLLLLLFLLLLFLLPTLWFCSPSAKYFFKMAFYNGWILFLAVLAIPVCAVRGRNVENMKILRLMLLHIKYLYGIRVEVRGAHHFPPSQPYVVVSNHQSSLDLLGMMEVLPGRCVPIAKRELLWAGSAGLACWLAGVIFIDRKRTGDAISVMSEVAQTLLTQDVRVWVFPEGTRNHNGSMLPFKRGAFHLAVQAQVPIVPIVMSSYQDFYCKKERRFTSGQCQVRVLPPVPTEGLTPDDVPALADRVRHSMLTVFREISTDGRGGGDYLKKPGGGG
" misc_feature 139..201 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99943.2); transmembrane region" misc_feature 220..894 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /note="1-acyl-sn-glycerol-3-phosphate acyltransferase; Provisional; Region: PRK15018" /db_xref="CDD:184979" misc_feature 232..294 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99943.2); transmembrane region" misc_feature 325..885 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /note="Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: AGPAT-like; Region: LPLAT_AGPAT-like; cd07989" /db_xref="CDD:153251" misc_feature order(430..432,439..441,445..447,493..504,655..663) /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /note="putative acyl-acceptor binding pocket; other site" /db_xref="CDD:153251" misc_feature 430..447 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99943.2); Region: HXXXXD motif" misc_feature 502..564 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99943.2); transmembrane region" exon 321..454 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" STS 333..570 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /standard_name="MARC_31849-31850:1068218042:1" /db_xref="UniSTS:269226" exon 455..630 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" exon 631..726 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" exon 727..799 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" variation 741 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="c" /replace="t" /db_xref="dbSNP:11553431" exon 800..2042 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /inference="alignment:Splign:1.39.8" variation 1187 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="c" /replace="t" /db_xref="dbSNP:1061807" variation 1254 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="a" /replace="g" /db_xref="dbSNP:11553430" variation 1478 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="a" /replace="c" /db_xref="dbSNP:1061808" variation 1756 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="c" /replace="t" /db_xref="dbSNP:1061840" STS 1777..2027 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /standard_name="D6S1412" /db_xref="UniSTS:37704" STS 1827..1985 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /standard_name="RH91426" /db_xref="UniSTS:83571" variation 1870 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="c" /replace="t" /db_xref="dbSNP:1061877" STS 1889..1959 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /standard_name="D6S1154E" /db_xref="UniSTS:29826" variation 1920 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="a" /replace="c" /db_xref="dbSNP:1061923" variation 1995 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" /replace="c" /replace="t" /db_xref="dbSNP:1061938" polyA_signal 2019..2024 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" polyA_site 2036 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" polyA_site 2042 /gene="AGPAT1" /gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA" ORIGIN
tttctttccttcgcttcctcttttagagaatgtccggattgctattggactttggagcgtatggctccaaatcaactcattggctaaaacttgacggaaaatggtggttaggtggccagaatggatttgtggccaggggcatggatgctgctgctgctgctcttcctgctgctgctcttcctgctgcccaccctgtggttctgcagccccagtgccaagtacttcttcaagatggccttctacaatggctggatcctcttcctggctgtgctcgccatccctgtgtgtgccgtgcgaggacgcaacgtcgagaacatgaagatcttgcgtctaatgctgctccacatcaaatacctgtacgggatccgagtggaggtgcgaggggctcaccacttccctccctcgcagccctatgttgttgtctccaaccaccagagctctctcgatctgcttgggatgatggaggtactgccaggccgctgtgtgcccattgccaagcgcgagctactgtgggctggctctgccgggctggcctgctggctggcaggagtcatcttcatcgaccggaagcgcacgggggatgccatcagtgtcatgtctgaggtcgcccagaccctgctcacccaggacgtgagggtctgggtgtttcctgagggaacgagaaaccacaatggctccatgctgcccttcaaacgtggcgccttccatcttgcagtgcaggcccaggttcccattgtccccatagtcatgtcctcctaccaagacttctactgcaagaaggagcgtcgcttcacctcgggacaatgtcaggtgcgggtgctgcccccagtgcccacggaagggctgacaccagatgacgtcccagctctggctgacagagtccggcactccatgctcactgttttccgggaaatctccactgatggccggggtggtggtgactatctgaagaagcctgggggcggtgggtgaaccctggctctgagctctcctcccatctgtccccatcttcctccccacacctacccacccagtgggccctgaagcagggccaaaccctcttccttgtctcccctctccccacttattctcctctttggaatcttcaacttctgaagtgaatgtggatacagcgccactcctgccccctcttggccccatccatggactcttgcctcggtgcagtctccactcttgacccccacctcctactgtcttgtctgtgggacagttgcctccccctcatctccagtgactcagcctacacaagggaggggaacattccatccccagtggagtctcttcctatgtggtcttctctacccctctaccccacattggccagtggactcatccattctttggaacaaatcccccccactccaaagtccatggattcaatggactcatccatttgtgaggaggacttctcgccctctggctggaagctgatacctgaagcactcccaggctcatcatgggagctttcctcagcaccttcaccttccctcccagtgtagcctcctgtcagtgggggctggacccttctaattcagaggtctcatgcctgcccttgcccagatgcccagggtcgtgcactctctgggataccagttcagtctccacatttctggttttctgtccccatagtacagttcttcagtggacatgaccccacccagccccctgcagccctgctgcaccatctcaccagacacaaggggaagaagcagacatcaggtgctgcactcacttctgccccctggggagttggggaaaggaacgaaccctggctggaggggataggagggcttttaatttatttctttttctgttgaggcttccccctctctgagccagttttcatttcttcctggtggcattagccactccctgcctctcactccagacctgttcccacaactggggaggtaggctgggagcaaaaggagagggtgggacccagttttgcgtggttggtttttattaattatctggataacagcaaaaaaactgaaaataaagagagagagagatctgggaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10554 -> Molecular function: GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity] evidence: IGI GeneID:10554 -> Biological process: GO:0001819 [positive regulation of cytokine production] evidence: IMP GeneID:10554 -> Biological process: GO:0001961 [positive regulation of cytokine-mediated signaling pathway] evidence: IC GeneID:10554 -> Biological process: GO:0006112 [energy reserve metabolic process] evidence: TAS GeneID:10554 -> Biological process: GO:0006644 [phospholipid metabolic process] evidence: TAS GeneID:10554 -> Biological process: GO:0006654 [phosphatidic acid biosynthetic process] evidence: IGI GeneID:10554 -> Biological process: GO:0006654 [phosphatidic acid biosynthetic process] evidence: TAS GeneID:10554 -> Biological process: GO:0016024 [CDP-diacylglycerol biosynthetic process] evidence: IEA GeneID:10554 -> Biological process: GO:0019432 [triglyceride biosynthetic process] evidence: TAS GeneID:10554 -> Biological process: GO:0031325 [positive regulation of cellular metabolic process] evidence: TAS GeneID:10554 -> Biological process: GO:0044255 [cellular lipid metabolic process] evidence: TAS GeneID:10554 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:10554 -> Biological process: GO:0046474 [glycerophospholipid biosynthetic process] evidence: TAS GeneID:10554 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: TAS GeneID:10554 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS GeneID:10554 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_116130 -> EC 2.3.1.51
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