LOCUS       NM_001316350            2458 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens glyceronephosphate O-acyltransferase (GNPAT),
            transcript variant 2, mRNA.
ACCESSION   NM_001316350 XM_005273314
VERSION     NM_001316350.2
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 2458)
  AUTHORS   Yang,Z., Bai,C., Pu,Y., Kong,Q., Guo,Y., Liu,X., Zhao,Q., Qiu,Z.,
            Zheng,W., He,Y., Lin,Y., Deng,L., Zhang,C., Xu,S., Peng,Y.,
            Xiang,K., Zhang,X., Cui,C., Pan,Y., Xin,J., Wang,Y., Liu,S.,
            Wang,L., Guo,H., Feng,Z., Wang,S., Shi,H., Jiang,B., Wu,T., Qi,X.
            and Su,B.
  CONSRTM   Ouzhuluobu; Gengdeng; Baimayangji; Cirenyangji; Baimakangzhuo;
            Gonggalanzi; Bianba
  TITLE     Genetic adaptation of skin pigmentation in highland Tibetans
  JOURNAL   Proc Natl Acad Sci U S A 119 (40), e2200421119 (2022)
   PUBMED   36161951
  REMARK    GeneRIF: Genetic adaptation of skin pigmentation in highland
            Tibetans.
REFERENCE   2  (bases 1 to 2458)
  AUTHORS   Secondes,E.S., Wallace,D.F., Rishi,G., McLaren,G.D., McLaren,C.E.,
            Chen,W.P., Ramm,L.E., Powell,L.W., Ramm,G.A., Barton,J.C. and
            Subramaniam,V.N.
  TITLE     Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D
            heterozygotes with elevated serum ferritin levels
  JOURNAL   Blood Cells Mol Dis 85, 102463 (2020)
   PUBMED   32652459
  REMARK    GeneRIF: Increased frequency of GNPAT p.D519G in compound HFE
            p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
REFERENCE   3  (bases 1 to 2458)
  AUTHORS   Gu,L., Zhu,Y., Lin,X., Tan,X., Lu,B. and Li,Y.
  TITLE     Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes
            lipid metabolism and hepatocarcinogenesis
  JOURNAL   Oncogene 39 (11), 2437-2449 (2020)
   PUBMED   31974474
  REMARK    GeneRIF: Stabilization of FASN by ACAT1-mediated GNPAT acetylation
            promotes lipid metabolism and hepatocarcinogenesis.
REFERENCE   4  (bases 1 to 2458)
  AUTHORS   Gu,L., Zhu,Y., Lin,X., Li,Y., Cui,K., Prochownik,E.V. and Li,Y.
  TITLE     Amplification of Glyceronephosphate O-Acyltransferase and
            Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis
  JOURNAL   Cancer Res 78 (20), 5808-5819 (2018)
   PUBMED   30143522
  REMARK    GeneRIF: GNPAT and USP30-mediated stabilization of DRP1 play a
            critical role in the development of hepatocellular carcinoma
REFERENCE   5  (bases 1 to 2458)
  AUTHORS   Greni,F., Valenti,L., Mariani,R., Pelloni,I., Rametta,R., Busti,F.,
            Ravasi,G., Girelli,D., Fargion,S., Galimberti,S., Piperno,A. and
            Pelucchi,S.
  TITLE     GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of
            Italian Hemochromatosis Patients and Blood Donors
  JOURNAL   Ann Hepatol 16 (3), 451-456 (2017)
   PUBMED   28425416
  REMARK    GeneRIF: GNPAT rs11558492 is not a major modifier of iron status
            and is not associated with liver fibrosis in HFE-related
            Hemochromatosis patients.
REFERENCE   6  (bases 1 to 2458)
  AUTHORS   Ofman,R., Hettema,E.H., Hogenhout,E.M., Caruso,U., Muijsers,A.O.
            and Wanders,R.J.
  TITLE     Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the
            human cDNA and resolution of the molecular basis in rhizomelic
            chondrodysplasia punctata type 2
  JOURNAL   Hum Mol Genet 7 (5), 847-853 (1998)
   PUBMED   9536089
REFERENCE   7  (bases 1 to 2458)
  AUTHORS   Thai,T.P., Heid,H., Rackwitz,H.R., Hunziker,A., Gorgas,K. and
            Just,W.W.
  TITLE     Ether lipid biosynthesis: isolation and molecular characterization
            of human dihydroxyacetonephosphate acyltransferase
  JOURNAL   FEBS Lett 420 (2-3), 205-211 (1997)
   PUBMED   9459311
REFERENCE   8  (bases 1 to 2458)
  AUTHORS   Ofman,R. and Wanders,R.J.
  TITLE     Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate
            acyltransferase from human placenta
  JOURNAL   Biochim Biophys Acta 1206 (1), 27-34 (1994)
   PUBMED   8186247
REFERENCE   9  (bases 1 to 2458)
  AUTHORS   Hardeman,D. and van den Bosch,H.
  TITLE     Topography of ether phospholipid biosynthesis
  JOURNAL   Biochim Biophys Acta 1006 (1), 1-8 (1989)
   PUBMED   2804060
REFERENCE   10 (bases 1 to 2458)
  AUTHORS   Schutgens,R.B., Heymans,H.S., Purvis,R., Wanders,R.J., Schrakamp,G.
            and van den Bosch,H.
  TITLE     [Diagnosis of Zellweger's cerebrohepatorenal syndrome]
  JOURNAL   Tijdschr Kindergeneeskd 52 (6), 231-238 (1984)
   PUBMED   6528320
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC366380.1, AK297982.1,
            AL137801.11 and BE222957.1.
            
            On May 31, 2019 this sequence version replaced NM_001316350.1.
            
            Summary: This gene encodes an enzyme located in the peroxisomal
            membrane which is essential to the synthesis of ether
            phospholipids. Mutations in this gene are associated with
            rhizomelic chondrodysplasia punctata. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            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 :: AK297982.1, SRR1660805.114486.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               DC366380.1         27-150
            125-898             AK297982.1         125-898
            899-899             AL137801.11        47377-47377
            900-1336            AK297982.1         900-1336
            1337-1337           AL137801.11        52052-52052
            1338-2076           AK297982.1         1338-2076
            2077-2458           BE222957.1         8-389               c
FEATURES             Location/Qualifiers
     source          1..2458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..2458
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="glyceronephosphate O-acyltransferase"
                     /db_xref="GeneID:8443"
                     /db_xref="HGNC:HGNC:4416"
                     /db_xref="MIM:602744"
     exon            1..245
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..2027
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /EC_number="2.3.1.42"
                     /note="isoform 2 is encoded by transcript variant 2;
                     dihydroxyacetone phosphate acyltransferase;
                     glycerone-phosphate O-acyltransferase;
                     acyl-CoA:dihydroxyacetonephosphateacyltransferase;
                     DHAP-AT"
                     /codon_start=1
                     /product="dihydroxyacetone phosphate acyltransferase
                     isoform 2"
                     /protein_id="NP_001303279.1"
                     /db_xref="GeneID:8443"
                     /db_xref="HGNC:HGNC:4416"
                     /db_xref="MIM:602744"
                     /translation="MESSSSSNSYFSVGPTSPSAVVLLYSLSKESLQSVDVLREEVSE
                     ILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHR
                     SYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWA
                     VFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVP
                     ISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSL
                     AAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQ
                     NRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVKDQV
                     ILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVY
                     SCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFL
                     VGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLSSDV
                     QKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL"
     exon            246..422
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            423..552
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            553..680
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            681..756
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            757..908
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1039
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1263
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1506
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1586
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..1727
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1827
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1828..1921
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..1983
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2458
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2254..2259
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: AATAAA"
     polyA_site      2282
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="major polyA site"
     regulatory      2354..2359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2376
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
     regulatory      2386..2391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2408
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
     regulatory      2436..2441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2458
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
ORIGIN      
        1 ccgtcctggc tgagatggcg gcgcccggga tcctgtgtag cggctgcaga gggtgccgcc
       61 gccctaggcg aagtagggcc gtcctgagcg aaagaaccgc ccccagcagg agcaccacca
      121 cggcttagca aagaatccca gaccccgccc gggaaggcag ccgcaccatg gagtcttcca
      181 gttcatctaa ctcttatttc tccgttggcc caaccagtcc cagcgctgtc gtgctcctct
      241 actcgctttc caaggaatcc cttcaatctg tggatgtcct ccgagaggaa gtgagtgaga
      301 tcttagatga aatgagtcac aaactgcgtc ttggagccat tcggttttgt gccttcaccc
      361 tgagcaaagt atttaaacaa attttctcga aggtgtgtgt aaatgaagaa ggtattcaga
      421 aactacaaag agccatccag gagcatcctg ttgttctgct gcctagtcat cgaagttaca
      481 ttgacttcct catgttgtct tttcttctat acaattatga tttgcctgtg ccagttatag
      541 cagcaggaat ggacttcctg ggaatgaaaa tggttggtga gctgctacga atgtcgggtg
      601 cctttttcat gcggcgtacc tttggtggca ataaactcta ctgggctgta ttctctgaat
      661 atgtaaaaac tatgttacgg aatggttatg ctcctgttga atttttcctc gaagggacaa
      721 gaagccgctc tgccaagaca ttgactccta aatttggtct tctgaatatt gtgatggagc
      781 cattttttaa aagagaagtt tttgatacct accttgtccc aattagtatc agttatgata
      841 agatcttgga agaaactctt tatgtgtatg agcttctagg ggttcctaaa ccaaaagagt
      901 ctacaactgg gttgctgaaa gccagaaaga ttctctctga aaattttgga agcatccatg
      961 tgtactttgg agatcctgtg tcacttcgat ctttggcagc tgggaggatg agtcggagct
     1021 catataactt ggttccaaga tacattcctc agaaacagtc tgaggacatg catgcctttg
     1081 tcactgaagt tgcctacaaa atggagcttc tgcaaattga aaacatggtt ttgagcccct
     1141 ggaccctaat agttgctgtt ctgcttcaga accggccatc catggacttt gatgctctgg
     1201 tggaaaagac tttatggcta aaaggcttaa cccaggcatt tggagggttt ctcatttggc
     1261 ctgataataa acctgctgaa gaagttgtcc cggccagcat tcttctgcat tccaacattg
     1321 ccagccttgt caaagaccag gtgattctga aagtggactc cggagactcg gaagtggtcg
     1381 atgggcttat gctccagcac atcactctcc tcatgtgctc agcttatagg aaccagctgc
     1441 tcaacatttt tgtgcgccca tccttagtag cagtagcatt gcagatgaca ccagggttca
     1501 ggaaagagga tgtctacagt tgctttcgct tcctacgtga tgtttttgca gatgagttca
     1561 tcttccttcc aggaaacaca ctaaaggact ttgaagaagg ctgttacctg ctttgtaaaa
     1621 gtgaagccat acaagtgact acgaaagaca tcctagttac agagaaagga aatactgtgt
     1681 tagaattttt agtaggactc tttaaacctt ttgtggaaag ctatcagata atttgcaagt
     1741 accttttgag tgaagaagag gaccacttca gtgaggaaca gtacttggct gcagtcagaa
     1801 aattcacaag tcagcttctc gatcaaggta cctctcaatg ttatgatgta ttatcttctg
     1861 atgtgcagaa aaacgcctta gcagcctgtg tgaggctcgg agtagtggag aagaagaaga
     1921 taaataataa ctgtatattt aatgtgaatg aacctgccac aaccaaatta gaagaaatgc
     1981 ttggttgtaa gacaccaata ggaaaaccag ccactgcaaa actttaataa tcaacaaata
     2041 gttatggaaa attcggtcac gtaattactc tcatcgaagg actcattaca acaaacaggg
     2101 aagtaaagga agagacacat cctctcatac tccctgagac tctgagaaca gtggacgcag
     2161 agggaagaga tgatcattgg aagcaatcag tttactcttc cccaccacag tggttaaaag
     2221 gcgtttgtat ctgacactat gtgtgtgttt taaaataaac ttttggaaac atgtttggaa
     2281 aagcaaagct cagctcattt cactaacact tttcagctta ctatatgtat taaactttta
     2341 tgttgacttt tgaattaaag tatgacaaca ctgaaagctc tggatattaa aagaaaatga
     2401 aaagggcata tctacgttac ttgtagcttg ctttaattaa agttgcctca aacaagta
//
