LOCUS       NM_006412               1546 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2
            (AGPAT2), transcript variant 1, mRNA.
ACCESSION   NM_006412
VERSION     NM_006412.4
KEYWORDS    RefSeq; MANE Select.
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 1546)
  AUTHORS   Mak,H.Y., Ouyang,Q., Tumanov,S., Xu,J., Rong,P., Dong,F., Lam,S.M.,
            Wang,X., Lukmantara,I., Du,X., Gao,M., Brown,A.J., Gong,X.,
            Shui,G., Stocker,R., Huang,X., Chen,S. and Yang,H.
  TITLE     AGPAT2 interaction with CDP-diacylglycerol synthases promotes the
            flux of fatty acids through the CDP-diacylglycerol pathway
  JOURNAL   Nat Commun 12 (1), 6877 (2021)
   PUBMED   34824276
  REMARK    GeneRIF: AGPAT2 interaction with CDP-diacylglycerol synthases
            promotes the flux of fatty acids through the CDP-diacylglycerol
            pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1546)
  AUTHORS   Zhang,Z., Zhou,Q., Luo,F., Zhou,R., Xu,J., Xiao,J., Dai,F. and
            Song,L.
  TITLE     Circular RNA circ-CHI3L1.2 modulates cisplatin resistance of
            osteosarcoma cells via the miR-340-5p/LPAATbeta axis
  JOURNAL   Hum Cell 34 (5), 1558-1568 (2021)
   PUBMED   34164774
  REMARK    GeneRIF: Circular RNA circ-CHI3L1.2 modulates cisplatin resistance
            of osteosarcoma cells via the miR-340-5p/LPAATbeta axis.
REFERENCE   3  (bases 1 to 1546)
  AUTHORS   Gorin,K., Golomb,M., Spitzen,S., Leitersdorf,E., Schurr,D.,
            Haj-Yahia,A., Weiss,R., Leibowitz,G. and Durst,R.
  TITLE     A rare frameshift mutation in the AGPAT2 gene in a family from gaza
            with congenital generalized lipodystrophy
  JOURNAL   Clin Endocrinol (Oxf) 93 (2), 212-214 (2020)
   PUBMED   32412105
  REMARK    GeneRIF: A rare frameshift mutation in the AGPAT2 gene in a family
            from gaza with congenital generalized lipodystrophy.
REFERENCE   4  (bases 1 to 1546)
  AUTHORS   Sim,M.F.M., Persiani,E., Talukder,M.M.U., Mcilroy,G.D., Roumane,A.,
            Edwardson,J.M. and Rochford,J.J.
  TITLE     Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3
            and AGPAT2 enzymes to facilitate adipocyte differentiation
  JOURNAL   Sci Rep 10 (1), 3259 (2020)
   PUBMED   32094408
  REMARK    GeneRIF: Oligomers of the lipodystrophy protein seipin may
            co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte
            differentiation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1546)
  AUTHORS   Ceccarini,G., Magno,S., Pelosini,C., Ferrari,F., Sessa,M.R.,
            Scabia,G., Maffei,M., Jeru,I., Lascols,O., Vigouroux,C. and
            Santini,F.
  TITLE     Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome)
            Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the
            Highly Heterogeneous Presentation of the Disease
  JOURNAL   Front Endocrinol (Lausanne) 11, 39 (2020)
   PUBMED   32117065
  REMARK    GeneRIF: Congenital Generalized Lipoatrophy (Berardinelli-Seip
            Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants
            Showing the Highly Heterogeneous Presentation of the Disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1546)
  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) (Pt 2), 455-461 (1997)
   PUBMED   9291118
REFERENCE   7  (bases 1 to 1546)
  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   8  (bases 1 to 1546)
  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   9  (bases 1 to 1546)
  AUTHORS   Lehner,R. and Kuksis,A.
  TITLE     Biosynthesis of triacylglycerols
  JOURNAL   Prog Lipid Res 35 (2), 169-201 (1996)
   PUBMED   8944226
  REMARK    Review article
REFERENCE   10 (bases 1 to 1546)
  AUTHORS   Van Maldergem,L.
  TITLE     Berardinelli-Seip Congenital Lipodystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301391
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 Nov 22, 2018 this sequence version replaced NM_006412.3.
            
            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 :: SRR1163655.485265.1,
                                           SRR3476690.542634.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153980, SAMEA2154125
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371696.7/ ENSP00000360761.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BF347518.1         3-4
            3-34                AL590226.23        113476-113507       c
            35-1093             AF000237.1         1-1059
            1094-1530           AL590226.23        99211-99647         c
            1531-1546           BC000026.2         1476-1491
FEATURES             Location/Qualifiers
     source          1..1546
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1546
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /note="1-acylglycerol-3-phosphate O-acyltransferase 2"
                     /db_xref="GeneID:10555"
                     /db_xref="HGNC:HGNC:325"
                     /db_xref="MIM:603100"
     exon            1..282
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..937
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /EC_number="2.3.1.51"
                     /note="isoform a is encoded by transcript variant 1;
                     lysophosphatidic acid acyltransferase-beta; 1-AGP
                     acyltransferase 2; 1-acyl-sn-glycerol-3-phosphate
                     acyltransferase beta; testicular tissue protein Li 143;
                     1-acylglycerol-3-phosphate O-acyltransferase 2
                     (lysophosphatidic acid acyltransferase, beta);
                     lysophospholipid acyltransferase 2"
                     /codon_start=1
                     /product="1-acyl-sn-glycerol-3-phosphate acyltransferase
                     beta isoform a"
                     /protein_id="NP_006403.2"
                     /db_xref="CCDS:CCDS7003.1"
                     /db_xref="GeneID:10555"
                     /db_xref="HGNC:HGNC:325"
                     /db_xref="MIM:603100"
                     /translation="MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVA
                     SLVCLLRHGGRTVENMSIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSIL
                     DMMGLMEVLPERCVQIAKRELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERM
                     VRENLKVWIYPEGTRNDNGDLLPFKKGAFYLAVQAQVPIVPVVYSSFSSFYNTKKKFF
                     TSGTVTVQVLEAIPTSGLTAADVPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQP
                     AQ"
     exon            283..416
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            417..592
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            593..688
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            689..761
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /inference="alignment:Splign:2.1.0"
     exon            762..1546
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1523..1528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /note="hexamer: TATAAA"
     polyA_site      1546
                     /gene="AGPAT2"
                     /gene_synonym="1-AGPAT2; BSCL; BSCL1; LPAAB; LPAAT-beta;
                     LPLAT2"
                     /note="major polyA site"
ORIGIN      
        1 agccccgccg ccctcgcaat aaggggcctg agcgcgcggg ggagaagcgg gagcgggagc
       61 gggagcgagc tggcggcgcc gtcgggcgcc gggccgggcc atggagctgt ggccgtgtct
      121 ggccgcggcg ctgctgttgc tgctgctgct ggtgcagctg agccgcgcgg ccgagttcta
      181 cgccaaggtc gccctgtact gcgcgctgtg cttcacggtg tccgccgtgg cctcgctcgt
      241 ctgcctgctg cgccacggcg gccggacggt ggagaacatg agcatcatcg gctggttcgt
      301 gcgaagcttc aagtactttt acgggctccg cttcgaggtg cgggacccgc gcaggctgca
      361 ggaggcccgt ccctgtgtca tcgtctccaa ccaccagagc atcctggaca tgatgggcct
      421 catggaggtc cttccggagc gctgcgtgca gatcgccaag cgggagctgc tcttcctggg
      481 gcccgtgggc ctcatcatgt acctcggggg cgtcttcttc atcaaccggc agcgctctag
      541 cactgccatg acagtgatgg ccgacctggg cgagcgcatg gtcagggaga acctcaaagt
      601 gtggatctat cccgagggta ctcgcaacga caatggggac ctgctgcctt ttaagaaggg
      661 cgccttctac ctggcagtcc aggcacaggt gcccatcgtc cccgtggtgt actcttcctt
      721 ctcctccttc tacaacacca agaagaagtt cttcacttca ggaacagtca cagtgcaggt
      781 gctggaagcc atccccacca gcggcctcac tgcggcggac gtccctgcgc tcgtggacac
      841 ctgccaccgg gccatgagga ccaccttcct ccacatctcc aagacccccc aggagaacgg
      901 ggccactgcg gggtctggcg tgcagccggc ccagtagccc agaccacggc agggcatgac
      961 ctggggaggg caggtggaag ccgatggctg gaggatgggc agaggggact cctcccggct
     1021 tccaaatacc actctgtccg gctcccccag ctctcactca gcccgggaag caggaagccc
     1081 cttctgtcac tggcctcaga cacaggcccc tggtgtcccc tgcagggggc tcagctggac
     1141 cctccccggg ctcgagggca gggactcgcg cccacggcac ctctgggagc tgggatgata
     1201 aagatgaggc ttgcggctgt ggcccgctgg tgggctgagc cacaaggccc ccgatggccc
     1261 aggagcagat gggaggaccc cgaggccaga cgcacactgt ccgagccctc tgctcagccg
     1321 cctgggaccc accagggtgc agctgggctc cagggtccag cccacaagct gcatcaggct
     1381 ctctgggaga ggaggggcct ggagggccag gagtcccaga ctcacgcacc ctgggccaca
     1441 gggagccggg aatcggggcc tgctgctcct gctggcctgg aagactctgt ggggtcagca
     1501 ctgtactccg ttgctgtttt tttataaaca cactcttgga agtggc
//
