LOCUS       NM_014236               2641 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens glyceronephosphate O-acyltransferase (GNPAT),
            transcript variant 1, mRNA.
ACCESSION   NM_014236
VERSION     NM_014236.4
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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 2641)
  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 AL137801.11, AJ002190.1 and
            BE222957.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014236.3.
            
            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 (1) represents the longer
            transcript and encodes the longer 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 :: SRR1660807.18115.1,
                                           SRR1660803.105724.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366647.9/ ENSP00000355607.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                AL137801.11        22433-22456
            25-2455             AJ002190.1         15-2445
            2456-2641           BE222957.1         8-193               c
FEATURES             Location/Qualifiers
     source          1..2641
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..2641
                     /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..2210
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /EC_number="2.3.1.42"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydroxyacetone phosphate acyltransferase;
                     glycerone-phosphate O-acyltransferase;
                     acyl-CoA:dihydroxyacetonephosphateacyltransferase;
                     DHAP-AT"
                     /codon_start=1
                     /product="dihydroxyacetone phosphate acyltransferase
                     isoform 1"
                     /protein_id="NP_055051.1"
                     /db_xref="CCDS:CCDS1592.1"
                     /db_xref="GeneID:8443"
                     /db_xref="HGNC:HGNC:4416"
                     /db_xref="MIM:602744"
                     /translation="MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRH
                     VSDLKFAMKCYTPLVYKGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREE
                     VSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLP
                     SHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKL
                     YWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTY
                     LVPISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSL
                     RSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAV
                     LLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVK
                     DQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKE
                     DVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVL
                     EFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLS
                     SDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL"
     exon            246..428
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            429..605
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            606..735
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            736..863
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            864..939
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1091
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1222
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1446
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1689
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1690..1769
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1910
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1911..2010
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2011..2104
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2166
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     exon            2167..2641
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2437..2442
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: AATAAA"
     polyA_site      2465
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="major polyA site"
     regulatory      2537..2542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2559
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
     regulatory      2569..2574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2591
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
     regulatory      2619..2624
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPAT"
                     /gene_synonym="DAP-AT; DAPAT; DHAPAT; RCDP2"
                     /note="hexamer: ATTAAA"
     polyA_site      2641
                     /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 actcgaagga gctcaaaaag tgggatgagt ttgaagatat tttagaagag aggaggcatg
      301 tcagtgactt gaaatttgca atgaaatgct acacacctct tgtctataag ggaattactc
      361 catgtaaacc aattgatatt aaatgtagtg ttctcaattc tgaggagatt cattatgtca
      421 ttaaacagct ttccaaggaa tcccttcaat ctgtggatgt cctccgagag gaagtgagtg
      481 agatcttaga tgaaatgagt cacaaactgc gtcttggagc cattcggttt tgtgccttca
      541 ccctgagcaa agtatttaaa caaattttct cgaaggtgtg tgtaaatgaa gaaggtattc
      601 agaaactaca aagagccatc caggagcatc ctgttgttct gctgcctagt catcgaagtt
      661 acattgactt cctcatgttg tcttttcttc tatacaatta tgatttgcct gtgccagtta
      721 tagcagcagg aatggacttc ctgggaatga aaatggttgg tgagctgcta cgaatgtcgg
      781 gtgccttttt catgcggcgt acctttggtg gcaataaact ctactgggct gtattctctg
      841 aatatgtaaa aactatgtta cggaatggtt atgctcctgt tgaatttttc ctcgaaggga
      901 caagaagccg ctctgccaag acattgactc ctaaatttgg tcttctgaat attgtgatgg
      961 agccattttt taaaagagaa gtttttgata cctaccttgt cccaattagt atcagttatg
     1021 ataagatctt ggaagaaact ctttatgtgt atgagcttct aggggttcct aaaccaaaag
     1081 agtctacaac tgggttgctg aaagccagaa agattctctc tgaaaatttt ggaagcatcc
     1141 atgtgtactt tggagatcct gtgtcacttc gatctttggc agctgggagg atgagtcgga
     1201 gctcatataa cttggttcca agatacattc ctcagaaaca gtctgaggac atgcatgcct
     1261 ttgtcactga agttgcctac aaaatggagc ttctgcaaat tgaaaacatg gttttgagcc
     1321 cctggaccct aatagttgct gttctgcttc agaaccggcc atccatggac tttgatgctc
     1381 tggtggaaaa gactttatgg ctaaaaggct taacccaggc atttggaggg tttctcattt
     1441 ggcctgataa taaacctgct gaagaagttg tcccggccag cattcttctg cattccaaca
     1501 ttgccagcct tgtcaaagac caggtgattc tgaaagtgga ctccggagac tcggaagtgg
     1561 tcgatgggct tatgctccag cacatcactc tcctcatgtg ctcagcttat aggaaccagc
     1621 tgctcaacat ttttgtgcgc ccatccttag tagcagtagc attgcagatg acaccagggt
     1681 tcaggaaaga ggatgtctac agttgctttc gcttcctacg tgatgttttt gcagatgagt
     1741 tcatcttcct tccaggaaac acactaaagg actttgaaga aggctgttac ctgctttgta
     1801 aaagtgaagc catacaagtg actacgaaag acatcctagt tacagagaaa ggaaatactg
     1861 tgttagaatt tttagtagga ctctttaaac cttttgtgga aagctatcag ataatttgca
     1921 agtacctttt gagtgaagaa gaggaccact tcagtgagga acagtacttg gctgcagtca
     1981 gaaaattcac aagtcagctt ctcgatcaag gtacctctca atgttatgat gtattatctt
     2041 ctgatgtgca gaaaaacgcc ttagcagcct gtgtgaggct cggagtagtg gagaagaaga
     2101 agataaataa taactgtata tttaatgtga atgaacctgc cacaaccaaa ttagaagaaa
     2161 tgcttggttg taagacacca ataggaaaac cagccactgc aaaactttaa taatcaacaa
     2221 atagttatgg aaaattcggt cacgtaatta ctctcatcga aggactcatt acaacaaaca
     2281 gggaagtaaa ggaagagaca catcctctca tactccctga gactctgaga acagtggacg
     2341 cagagggaag agatgatcat tggaagcaat cagtttactc ttccccacca cagtggttaa
     2401 aaggcgtttg tatctgacac tatgtgtgtg ttttaaaata aacttttgga aacatgtttg
     2461 gaaaagcaaa gctcagctca tttcactaac acttttcagc ttactatatg tattaaactt
     2521 ttatgttgac ttttgaatta aagtatgaca acactgaaag ctctggatat taaaagaaaa
     2581 tgaaaagggc atatctacgt tacttgtagc ttgctttaat taaagttgcc tcaaacaagt
     2641 a
//
