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2024-04-25 21:53:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006412 1576 bp mRNA linear PRI 12-MAY-2013
DEFINITION Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2
(AGPAT2), transcript variant 1, mRNA.
ACCESSION NM_006412
VERSION NM_006412.3 GI:68835055
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 1576)
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 1576)
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 1576)
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 1576)
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 1576)
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 1576)
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 1576)
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 1576)
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 1576)
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 1576)
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, AL590226.23,
AF000237.1 and BC000026.2.
This sequence is a reference standard in the RefSeqGene project.
On Jul 5, 2005 this sequence version replaced gi:6041664.
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 (1) represents the longer
transcript and encodes the longer isoform (a).
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 :: AF011374.1, AF000237.1 [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
1-4 BF347518.1 1-4
5-36 AL590226.23 113476-113507 c
37-1095 AF000237.1 1-1059
1096-1532 AL590226.23 99211-99647 c
1533-1576 BC000026.2 1476-1519
FEATURES Location/Qualifiers
source 1..1576
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q34.3"
gene 1..1576
/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="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..939
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/EC_number="2.3.1.51"
/note="isoform a precursor is encoded by transcript
variant 1; 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 a precursor"
/protein_id="NP_006403.2"
/db_xref="GI:6041665"
/db_xref="CCDS:CCDS7003.1"
/db_xref="GeneID:10555"
/db_xref="HGNC:325"
/db_xref="MIM:603100"
/translation="
MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENMSIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGDLLPFKKGAFYLAVQAQVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ
"
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 103..165
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15120.1);
transmembrane region"
misc_feature 190..252
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15120.1);
transmembrane region"
misc_feature 211..912
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/note="1-acyl-sn-glycerol-3-phosphate acyltransferase;
Provisional; Region: PRK15018"
/db_xref="CDD:184979"
misc_feature 301..849
/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..468,619..627)
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/note="putative acyl-acceptor binding pocket; other site"
/db_xref="CDD:153251"
misc_feature 394..411
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15120.1);
Region: HXXXXD motif"
misc_feature 466..528
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15120.1);
transmembrane region"
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..690
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/inference="alignment:Splign:1.39.8"
exon 691..763
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/inference="alignment:Splign:1.39.8"
exon 764..1548
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/inference="alignment:Splign:1.39.8"
STS 765..1546
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/standard_name="AGPAT2_9138"
/db_xref="UniSTS:471339"
variation 823
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:11545228"
variation 890
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/replace="c"
/replace="t"
/db_xref="dbSNP:17848858"
STS 1365..1506
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/standard_name="RH41872"
/db_xref="UniSTS:86338"
variation 1381
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/replace="c"
/replace="g"
/db_xref="dbSNP:6951"
variation 1456
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/replace="c"
/replace="t"
/db_xref="dbSNP:10320"
variation 1502
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
/replace="a"
/replace="c"
/db_xref="dbSNP:1061994"
polyA_site 1548
/gene="AGPAT2"
/gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta"
ORIGIN
ccagccccgccgccctcgcaataaggggcctgagcgcgcgggggagaagcgggagcgggagcgggagcgagctggcggcgccgtcgggcgccgggccgggccatggagctgtggccgtgtctggccgcggcgctgctgttgctgctgctgctggtgcagctgagccgcgcggccgagttctacgccaaggtcgccctgtactgcgcgctgtgcttcacggtgtccgccgtggcctcgctcgtctgcctgctgcgccacggcggccggacggtggagaacatgagcatcatcggctggttcgtgcgaagcttcaagtacttttacgggctccgcttcgaggtgcgggacccgcgcaggctgcaggaggcccgtccctgtgtcatcgtctccaaccaccagagcatcctggacatgatgggcctcatggaggtccttccggagcgctgcgtgcagatcgccaagcgggagctgctcttcctggggcccgtgggcctcatcatgtacctcgggggcgtcttcttcatcaaccggcagcgctctagcactgccatgacagtgatggccgacctgggcgagcgcatggtcagggagaacctcaaagtgtggatctatcccgagggtactcgcaacgacaatggggacctgctgccttttaagaagggcgccttctacctggcagtccaggcacaggtgcccatcgtccccgtggtgtactcttccttctcctccttctacaacaccaagaagaagttcttcacttcaggaacagtcacagtgcaggtgctggaagccatccccaccagcggcctcactgcggcggacgtccctgcgctcgtggacacctgccaccgggccatgaggaccaccttcctccacatctccaagaccccccaggagaacggggccactgcggggtctggcgtgcagccggcccagtagcccagaccacggcagggcatgacctggggagggcaggtggaagccgatggctggaggatgggcagaggggactcctcccggcttccaaataccactctgtccggctcccccagctctcactcagcccgggaagcaggaagccccttctgtcactggcctcagacacaggcccctggtgtcccctgcagggggctcagctggaccctccccgggctcgagggcagggactcgcgcccacggcacctctgggagctgggatgataaagatgaggcttgcggctgtggcccgctggtgggctgagccacaaggcccccgatggcccaggagcagatgggaggaccccgaggccagacgcacactgtccgagccctctgctcagccgcctgggacccaccagggtgcagctgggctccagggtccagcccacaagctgcatcaggctctctgggagaggaggggcctggagggccaggagtcccagactcacgcaccctgggccacagggagccgggaatcggggcctgctgctcctgctggcctggaagactctgtggggtcagcactgtactccgttgctgtttttttataaacacactcttggaagtggcaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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_006403 -> EC 2.3.1.51
by
@meso_cacase at
DBCLS
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