LOCUS       NM_025225               2753 bp    mRNA    linear   PRI 19-FEB-2025
DEFINITION  Homo sapiens patatin like domain 3, 1-acylglycerol-3-phosphate
            O-acyltransferase (PNPLA3), mRNA.
ACCESSION   NM_025225
VERSION     NM_025225.3
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 2753)
  AUTHORS   Schenker,R.B., Machle,C.J., Allayee,H., Lurmann,F., Patterson,W.B.,
            Kohli,R., Goran,M.I. and Alderete,T.L.
  TITLE     Ambient air pollution exposure is associated with liver fat and
            stiffness in Latino youth with a more pronounced effect in those
            with PNPLA3 genotype and more advanced liver disease
  JOURNAL   Ecotoxicol Environ Saf 286, 117234 (2024)
   PUBMED   39454357
  REMARK    GeneRIF: Ambient air pollution exposure is associated with liver
            fat and stiffness in Latino youth with a more pronounced effect in
            those with PNPLA3 genotype and more advanced liver disease.
REFERENCE   2  (bases 1 to 2753)
  AUTHORS   Sato,S., Iino,C., Sasada,T., Soma,G., Furusawa,K., Yoshida,K.,
            Sawada,K., Mikami,T., Nakaji,S., Sakuraba,H. and Fukuda,S.
  TITLE     Epidemiological Study on the Interaction between the PNPLA3
            (rs738409) and Gut Microbiota in Metabolic Dysfunction-Associated
            Steatotic Liver Disease
  JOURNAL   Genes (Basel) 15 (9), 1172 (2024)
   PUBMED   39336763
  REMARK    GeneRIF: Epidemiological Study on the Interaction between the
            PNPLA3 (rs738409) and Gut Microbiota in Metabolic
            Dysfunction-Associated Steatotic Liver Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2753)
  AUTHORS   Husseini,A.A.
  TITLE     Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic
            steatohepatitis patients of Turkish origin
  JOURNAL   Mol Biol Rep 51 (1), 845 (2024)
   PUBMED   39042259
  REMARK    GeneRIF: Genotypic variation in CYP2E1, GCKR, and PNPLA3 among
            nonalcoholic steatohepatitis patients of Turkish origin.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2753)
  AUTHORS   Doueiry,C., Kappler,C.S., Martinez-Morant,C. and Duncan,S.A.
  TITLE     A PNPLA3-Deficient iPSC-Derived Hepatocyte Screen Identifies
            Pathways to Potentially Reduce Steatosis in Metabolic
            Dysfunction-Associated Fatty Liver Disease
  JOURNAL   Int J Mol Sci 25 (13), 7277 (2024)
   PUBMED   39000384
  REMARK    GeneRIF: A PNPLA3-Deficient iPSC-Derived Hepatocyte Screen
            Identifies Pathways to Potentially Reduce Steatosis in Metabolic
            Dysfunction-Associated Fatty Liver Disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2753)
  AUTHORS   Stine,J.G., Medic,N., Pettersson,B., Venerus,M. and Blau,J.E.
  TITLE     The health care experience of adults with metabolic
            dysfunction-associated steatohepatitis and influence of PNPLA3: A
            qualitative study
  JOURNAL   Hepatol Commun 8 (6), e0451 (2024)
   PUBMED   38780312
  REMARK    GeneRIF: The health care experience of adults with metabolic
            dysfunction-associated steatohepatitis and influence of PNPLA3: A
            qualitative study.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2753)
  AUTHORS   Jenkins,C.M., Mancuso,D.J., Yan,W., Sims,H.F., Gibson,B. and
            Gross,R.W.
  TITLE     Identification, cloning, expression, and purification of three
            novel human calcium-independent phospholipase A2 family members
            possessing triacylglycerol lipase and acylglycerol transacylase
            activities
  JOURNAL   J Biol Chem 279 (47), 48968-48975 (2004)
   PUBMED   15364929
  REMARK    GeneRIF: iPLA2epsilon (adiponutrin), iPLA2zeta (TTS-2.2), and
            iPLA2eta (GS2) are three novel TAG lipases/acylglycerol
            transacylases that likely participate in TAG hydrolysis and the
            acyl-CoA independent transacylation of acylglycerols
REFERENCE   7  (bases 1 to 2753)
  AUTHORS   Liu,Y.M., Moldes,M., Bastard,J.P., Bruckert,E., Viguerie,N.,
            Hainque,B., Basdevant,A., Langin,D., Pairault,J. and Clement,K.
  TITLE     Adiponutrin: A new gene regulated by energy balance in human
            adipose tissue
  JOURNAL   J Clin Endocrinol Metab 89 (6), 2684-2689 (2004)
   PUBMED   15181042
REFERENCE   8  (bases 1 to 2753)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   9  (bases 1 to 2753)
  AUTHORS   Collins,J.E., Goward,M.E., Cole,C.G., Smink,L.J., Huckle,E.J.,
            Knowles,S., Bye,J.M., Beare,D.M. and Dunham,I.
  TITLE     Reevaluating human gene annotation: a second-generation analysis of
            chromosome 22
  JOURNAL   Genome Res 13 (1), 27-36 (2003)
   PUBMED   12529303
REFERENCE   10 (bases 1 to 2753)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL138578.2 and AL035398.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_025225.2.
            
            Summary: The protein encoded by this gene is a triacylglycerol
            lipase that mediates triacylglycerol hydrolysis in adipocytes. The
            encoded protein, which appears to be membrane bound, may be
            involved in the balance of energy usage/storage in adipocytes.
            [provided by RefSeq, Jul 2008].
            
            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 :: AK315166.1, AL138578.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216180.8/ ENSP00000216180.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2739              AL138578.2         67-2805
            2740-2753           AL035398.19        9565-9578
FEATURES             Location/Qualifiers
     source          1..2753
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..2753
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /note="patatin like domain 3, 1-acylglycerol-3-phosphate
                     O-acyltransferase"
                     /db_xref="GeneID:80339"
                     /db_xref="HGNC:HGNC:18590"
                     /db_xref="MIM:609567"
     exon            1..294
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1553
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.4"
                     /EC_number="2.3.1.51"
                     /note="adiponutrin; patatin-like phospholipase
                     domain-containing protein 3; acylglycerol
                     O-acyltransferase; calcium-independent phospholipase
                     A2-epsilon; iPLA2epsilon; iPLA2-epsilon; acylglycerol
                     transacylase; lysophosphatidic acid acyltransferase;
                     patatin like phospholipase domain containing 3"
                     /codon_start=1
                     /product="1-acylglycerol-3-phosphate O-acyltransferase
                     PNPLA3"
                     /protein_id="NP_079501.2"
                     /db_xref="CCDS:CCDS14054.1"
                     /db_xref="GeneID:80339"
                     /db_xref="HGNC:HGNC:18590"
                     /db_xref="MIM:609567"
                     /translation="MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLF
                     GASAGALHCVGVLSGIPLEQTLQVLSDLVRKARSRNIGIFHPSFNLSKFLRQGLCKCL
                     PANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFIPFYSGLIPPSFR
                     GVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCTGN
                     LYLLSRAFVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMP
                     SWANMSLDSSPESAALAVRLEGDELLDHLRLSILPWDESILDTLSPRLATALSEEMKD
                     KGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQ
                     VFTRVLMCLLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPKGCPAETKAEATPRSIL
                     RSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL"
     exon            295..527
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            528..593
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            594..803
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            804..864
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            865..1086
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1219
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1220..1324
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..2753
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2154..2159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /note="hexamer: TATAAA"
     polyA_site      2175
                     /gene="PNPLA3"
                     /gene_synonym="ADPN; C22orf20; iPLA(2)epsilon"
                     /note="major polyA site"
ORIGIN      
        1 agagagcgct tgcgggcgcc gggcggagct gctgcggatc aggacccgag ccgattcccg
       61 atcccgaccc agatcctaac ccgcgccccc gccccgccgc cgccgccatg tacgacgcag
      121 agcgcggctg gagcttgtcc ttcgcgggct gcggcttcct gggcttctac cacgtcgggg
      181 cgacccgctg cctgagcgag cacgccccgc acctcctccg cgacgcgcgc atgttgttcg
      241 gcgcttcggc cggggcgttg cactgcgtcg gcgtcctctc cggtatcccg ctggagcaga
      301 ctctgcaggt cctctcagat cttgtgcgga aggccaggag tcggaacatt ggcatcttcc
      361 atccatcctt caacttaagc aagttcctcc gacagggtct ctgcaaatgc ctcccggcca
      421 atgtccacca gctcatctcc ggcaaaatag gcatctctct taccagagtg tctgatgggg
      481 aaaacgttct ggtgtctgac tttcggtcca aagacgaagt cgtggatgcc ttggtatgtt
      541 cctgcttcat ccccttctac agtggcctta tccctccttc cttcagaggc gtgcgatatg
      601 tggatggagg agtgagtgac aacgtaccct tcattgatgc caaaacaacc atcaccgtgt
      661 cccccttcta tggggagtac gacatctgcc ctaaagtcaa gtccacgaac tttcttcatg
      721 tggacatcac caagctcagt ctacgcctct gcacagggaa cctctacctt ctctcgagag
      781 cttttgtccc cccggatctc aaggtgctgg gagagatatg ccttcgagga tatttggatg
      841 cattcaggtt cttggaagag aagggcatct gcaacaggcc ccagccaggc ctgaagtcat
      901 cctcagaagg gatggatcct gaggtcgcca tgcccagctg ggcaaacatg agtctggatt
      961 cttccccgga gtcggctgcc ttggctgtga ggctggaggg agatgagctg ctagaccacc
     1021 tgcgtctcag catcctgccc tgggatgaga gcatcctgga caccctctcg cccaggctcg
     1081 ctacagcact gagtgaagaa atgaaagaca aaggtggata catgagcaag atttgcaact
     1141 tgctacccat taggataatg tcttatgtaa tgctgccctg taccctgcct gtggaatctg
     1201 ccattgcgat tgtccagaga ctggtgacat ggcttccaga tatgcccgac gatgtcctgt
     1261 ggttgcagtg ggtgacctca caggtgttca ctcgagtgct gatgtgtctg ctccccgcct
     1321 ccaggtccca aatgccagtg agcagccaac aggcctcccc atgcacacct gagcaggact
     1381 ggccctgctg gactccctgc tcccccaagg gctgtccagc agagaccaaa gcagaggcca
     1441 ccccgcggtc catcctcagg tccagcctga acttcttctt gggcaataaa gtacctgctg
     1501 gtgctgaggg gctctccacc tttcccagtt tttcactaga gaagagtctg tgagtcactt
     1561 gaggaggcga gtctagcaga ttctttcaga ggtgctaaag tttcccatct ttgtgcagct
     1621 acctccgcat tgctgtgtag tgacccctgc ctgtgacgtg gaggatccca gcctctgagc
     1681 tgagttggtt ttatgaaaag ctaggaagca acctttcgcc tgtgcagcgg tccagcactt
     1741 aactctaata catcagcatg cgttaattca gctggttggg aaatgacacc aggaagccca
     1801 gtgcagaggg tcccttactg actgtttcgt ggccctatta atggtcagac tgttccagca
     1861 tgaggttctt agaatgacag gtgtttggat gggtgggggc cttgtgatgg ggggtaggct
     1921 ggcccatgtg tgatcttgtg gggtggaggg aagagaatag catgatccca cttccccatg
     1981 ctgtgggaag gggtgcagtt cgtccccaag aacgacactg cctgtcaggt ggtctgcaaa
     2041 gatgataacc ttgactacta aaaacgtctc catggcgggg gtaacaagat gataatctac
     2101 ttaattttag aacacctttt tcacctaact aaaataatgt ttaaagagtt ttgtataaaa
     2161 atgtaaggaa gcgttgttac ctgttgaatt ttgtattatg tgaatcagtg agatgttagt
     2221 agaataagcc ttaaaaaaaa aaaaatcggt tgggtgcagt ggcacacggc tgtaatccca
     2281 gcactttggg aggccaaggt tggcagatca cctgaggtca ggagttcaag accagtctgg
     2341 ccaacatagc aaaaccctgt ctctactaaa aatacaaaaa ttatctgggc atggtggtgc
     2401 atgcctgtaa tcccagctat tcggaaggct gaggcaggag aatcacttga acccaggagg
     2461 cggaggttgc ggtgagctga gattgcacca tttcattcca gcctgggcaa catgagtgaa
     2521 agtctgactc aaaaaaaaaa aatttaaaaa acaaaataat ctagtgtgca gggcattcac
     2581 ctcagccccc caggcaggag ccaagcacag caggagcttc cgcctcctct ccactggagc
     2641 acacaacttg aacctggctt attttctgca gggaccagcc ccacatggtc agtgagtttc
     2701 tccccatgtg tggcgatgag agagtgtaga aataaagaca caagacaaag aga
//
