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2024-04-16 22:39:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006411 2259 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1
(AGPAT1), transcript variant 1, mRNA.
ACCESSION NM_006411
VERSION NM_006411.3 GI:301336168
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 2259)
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 2259)
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 2259)
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 2259)
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 2259)
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 2259)
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 2259)
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 2259)
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 2259)
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 2259)
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 DA529681.1, BC004310.1 and
AI193422.1.
On Jul 27, 2010 this sequence version replaced gi:26787964.
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 (1) represents the longer
transcript. 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 :: U56417.1, BC090849.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-56 DA529681.1 1-56
57-2239 BC004310.1 1-2183
2240-2259 AI193422.1 1-20 c
FEATURES Location/Qualifiers
source 1..2259
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21.3"
gene 1..2259
/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..326
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
misc_feature 192..194
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/note="upstream in-frame stop codon"
exon 327..535
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
CDS 336..1187
/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_006402.1"
/db_xref="GI:5453718"
/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 354..416
/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 435..1109
/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 447..509
/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 540..1100
/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(645..647,654..656,660..662,708..719,870..878)
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/note="putative acyl-acceptor binding pocket; other site"
/db_xref="CDD:153251"
misc_feature 645..662
/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 717..779
/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 536..669
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
STS 548..785
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/standard_name="MARC_31849-31850:1068218042:1"
/db_xref="UniSTS:269226"
exon 670..845
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
exon 846..941
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
exon 942..1014
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
variation 956
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="c"
/replace="t"
/db_xref="dbSNP:11553431"
exon 1015..2257
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/inference="alignment:Splign:1.39.8"
variation 1402
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061807"
variation 1469
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="a"
/replace="g"
/db_xref="dbSNP:11553430"
variation 1693
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="a"
/replace="c"
/db_xref="dbSNP:1061808"
variation 1971
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061840"
STS 1992..2242
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/standard_name="D6S1412"
/db_xref="UniSTS:37704"
STS 2042..2200
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/standard_name="RH91426"
/db_xref="UniSTS:83571"
variation 2085
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061877"
STS 2104..2174
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/standard_name="D6S1154E"
/db_xref="UniSTS:29826"
variation 2135
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="a"
/replace="c"
/db_xref="dbSNP:1061923"
variation 2210
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
/replace="c"
/replace="t"
/db_xref="dbSNP:1061938"
polyA_signal 2234..2239
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
polyA_site 2251
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
polyA_site 2257
/gene="AGPAT1"
/gene_synonym="1-AGPAT1; G15; LPAAT-alpha; LPAATA"
ORIGIN
acttcctggccggccccggaaaccagcaggcgttggggaggggtggcgggggaatagcggcggcagcagccccagccctcagagagacagcagaaagggagggagggagggtgctggggggacagccccccaccattcctaccgctatgggcccaacctcccactcccacctcccctccatcggccggggctaggacacccccaaatcccgtcgcccccttggcaccgacaccccgacagagacagagacacagccatccgccaccaccgctgccgcagcctggctggggagggggccagccccccaggccccctacccctctgaggtggccagaatggatttgtggccaggggcatggatgctgctgctgctgctcttcctgctgctgctcttcctgctgcccaccctgtggttctgcagccccagtgccaagtacttcttcaagatggccttctacaatggctggatcctcttcctggctgtgctcgccatccctgtgtgtgccgtgcgaggacgcaacgtcgagaacatgaagatcttgcgtctaatgctgctccacatcaaatacctgtacgggatccgagtggaggtgcgaggggctcaccacttccctccctcgcagccctatgttgttgtctccaaccaccagagctctctcgatctgcttgggatgatggaggtactgccaggccgctgtgtgcccattgccaagcgcgagctactgtgggctggctctgccgggctggcctgctggctggcaggagtcatcttcatcgaccggaagcgcacgggggatgccatcagtgtcatgtctgaggtcgcccagaccctgctcacccaggacgtgagggtctgggtgtttcctgagggaacgagaaaccacaatggctccatgctgcccttcaaacgtggcgccttccatcttgcagtgcaggcccaggttcccattgtccccatagtcatgtcctcctaccaagacttctactgcaagaaggagcgtcgcttcacctcgggacaatgtcaggtgcgggtgctgcccccagtgcccacggaagggctgacaccagatgacgtcccagctctggctgacagagtccggcactccatgctcactgttttccgggaaatctccactgatggccggggtggtggtgactatctgaagaagcctgggggcggtgggtgaaccctggctctgagctctcctcccatctgtccccatcttcctccccacacctacccacccagtgggccctgaagcagggccaaaccctcttccttgtctcccctctccccacttattctcctctttggaatcttcaacttctgaagtgaatgtggatacagcgccactcctgccccctcttggccccatccatggactcttgcctcggtgcagtctccactcttgacccccacctcctactgtcttgtctgtgggacagttgcctccccctcatctccagtgactcagcctacacaagggaggggaacattccatccccagtggagtctcttcctatgtggtcttctctacccctctaccccacattggccagtggactcatccattctttggaacaaatcccccccactccaaagtccatggattcaatggactcatccatttgtgaggaggacttctcgccctctggctggaagctgatacctgaagcactcccaggctcatcatgggagctttcctcagcaccttcaccttccctcccagtgtagcctcctgtcagtgggggctggacccttctaattcagaggtctcatgcctgcccttgcccagatgcccagggtcgtgcactctctgggataccagttcagtctccacatttctggttttctgtccccatagtacagttcttcagtggacatgaccccacccagccccctgcagccctgctgcaccatctcaccagacacaaggggaagaagcagacatcaggtgctgcactcacttctgccccctggggagttggggaaaggaacgaaccctggctggaggggataggagggcttttaatttatttctttttctgttgaggcttccccctctctgagccagttttcatttcttcctggtggcattagccactccctgcctctcactccagacctgttcccacaactggggaggtaggctgggagcaaaaggagagggtgggacccagttttgcgtggttggtttttattaattatctggataacagcaaaaaaactgaaaataaagagagagagagatctgggaa
//
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_006402 -> EC 2.3.1.51
by
@meso_cacase at
DBCLS
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