LOCUS       NM_004650               3342 bp    mRNA    linear   PRI 19-FEB-2025
DEFINITION  Homo sapiens patatin like domain 4, phospholipase and
            triacylglycerol lipase (PNPLA4), transcript variant 1, mRNA.
ACCESSION   NM_004650 XM_047871
VERSION     NM_004650.3
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 3342)
  AUTHORS   Gao,H., Huang,X., Chen,W., Feng,Z., Zhao,Z., Li,P., Tan,C.,
            Wang,J., Zhuang,Q., Gao,Y., Min,S., Yao,Q., Qian,M., Ma,X., Wu,F.,
            Yan,W., Sheng,W. and Huang,G.
  TITLE     Association of copy number variation in X chromosome-linked PNPLA4
            with heterotaxy and congenital heart disease
  JOURNAL   Chin Med J (Engl) 137 (15), 1823-1834 (2024)
   PUBMED   38973237
  REMARK    GeneRIF: Association of copy number variation in X
            chromosome-linked PNPLA4 with heterotaxy and congenital heart
            disease.
REFERENCE   2  (bases 1 to 3342)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 3342)
  AUTHORS   Hermansson,M., Hanninen,S., Hokynar,K. and Somerharju,P.
  TITLE     The PNPLA-family phospholipases involved in glycerophospholipid
            homeostasis of HeLa cells
  JOURNAL   Biochim Biophys Acta 1861 (9 Pt A), 1058-1065 (2016)
   PUBMED   27317427
  REMARK    GeneRIF: These results strongly suggest that PNPLA9, -6 and -4 play
            a key role in GPL turnover and homeostasis in human cells. A
            hypothetical model suggesting how these enzymes could recognize the
            relative concentration of the different GPLs is proposed
REFERENCE   4  (bases 1 to 3342)
  AUTHORS   Kohda,M., Tokuzawa,Y., Kishita,Y., Nyuzuki,H., Moriyama,Y.,
            Mizuno,Y., Hirata,T., Yatsuka,Y., Yamashita-Sugahara,Y.,
            Nakachi,Y., Kato,H., Okuda,A., Tamaru,S., Borna,N.N., Banshoya,K.,
            Aigaki,T., Sato-Miyata,Y., Ohnuma,K., Suzuki,T., Nagao,A.,
            Maehata,H., Matsuda,F., Higasa,K., Nagasaki,M., Yasuda,J.,
            Yamamoto,M., Fushimi,T., Shimura,M., Kaiho-Ichimoto,K.,
            Harashima,H., Yamazaki,T., Mori,M., Murayama,K., Ohtake,A. and
            Okazaki,Y.
  TITLE     A Comprehensive Genomic Analysis Reveals the Genetic Landscape of
            Mitochondrial Respiratory Chain Complex Deficiencies
  JOURNAL   PLoS Genet 12 (1), e1005679 (2016)
   PUBMED   26741492
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3342)
  AUTHORS   Johansson,L.E., Johansson,L.M., Danielsson,P., Norgren,S.,
            Johansson,S., Marcus,C. and Ridderstrale,M.
  TITLE     Genetic variance in the adiponutrin gene family and childhood
            obesity
  JOURNAL   PLoS One 4 (4), e5327 (2009)
   PUBMED   19390624
  REMARK    GeneRIF: No association between genetic variants in PNPLA4 genes
            and childhood and adolescent obesity
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3342)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 3342)
  AUTHORS   Lake,A.C., Sun,Y., Li,J.L., Kim,J.E., Johnson,J.W., Li,D.,
            Revett,T., Shih,H.H., Liu,W., Paulsen,J.E. and Gimeno,R.E.
  TITLE     Expression, regulation, and triglyceride hydrolase activity of
            Adiponutrin family members
  JOURNAL   J Lipid Res 46 (11), 2477-2487 (2005)
   PUBMED   16150821
REFERENCE   8  (bases 1 to 3342)
  AUTHORS   Gao,J. and Simon,M.
  TITLE     Identification of a novel keratinocyte retinyl ester hydrolase as a
            transacylase and lipase
  JOURNAL   J Invest Dermatol 124 (6), 1259-1266 (2005)
   PUBMED   15955102
  REMARK    GeneRIF: The GS2 gene (PNPLA4) encodes a keratinocyte retinyl ester
            hydrolase. The protein also catalyzes fatty acyl CoA-dependent and
            -independent retinol esterification, using triolein as substrate
            and generates diacylglyceride and free fatty acid.
REFERENCE   9  (bases 1 to 3342)
  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   10 (bases 1 to 3342)
  AUTHORS   Lee,W.C., Salido,E. and Yen,P.H.
  TITLE     Isolation of a new gene GS2 (DXS1283E) from a CpG island between
            STS and KAL1 on Xp22.3
  JOURNAL   Genomics 22 (2), 372-376 (1994)
   PUBMED   7806223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB468796.1, U03886.1 and
            AC005296.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004650.2.
            
            Summary: This gene encodes a member of the patatin-like family of
            phospholipases. The encoded enzyme has both triacylglycerol lipase
            and transacylase activities and may be involved in adipocyte
            triglyceride homeostasis. Alternate splicing results in multiple
            transcript variants. A pseudogene of this gene is found on
            chromosome Y. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this transcript
            is supported by transcript alignments.
            
            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 :: SRR1803615.107079.1,
                                           SRR1803616.229563.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381042.9/ ENSP00000370430.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DB468796.1         22-32
            12-1606             U03886.1           1-1595
            1607-2826           AC005296.2         106823-108042
            2827-3342           AC005296.2         108043-108558
FEATURES             Location/Qualifiers
     source          1..3342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.31"
     gene            1..3342
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /note="patatin like domain 4, phospholipase and
                     triacylglycerol lipase"
                     /db_xref="GeneID:8228"
                     /db_xref="HGNC:HGNC:24887"
                     /db_xref="MIM:300102"
     exon            1..128
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     exon            129..321
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..903
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.4"
                     /note="isoform 1 is encoded by transcript variant 1; IPLA2
                     eta; calcium independent phospholipases A2 eta;
                     patatin-like phospholipase domain-containing protein 4;
                     calcium-independent phospholipase A2-eta; patatin like
                     phospholipase domain containing 4"
                     /codon_start=1
                     /product="patatin-like phospholipase domain-containing
                     protein 4 isoform 1"
                     /protein_id="NP_004641.1"
                     /db_xref="CCDS:CCDS14129.1"
                     /db_xref="GeneID:8228"
                     /db_xref="HGNC:HGNC:24887"
                     /db_xref="MIM:300102"
                     /translation="MKHINLSFAACGFLGIYHLGAASALCRHGKKLVKDVKAFAGASA
                     GSLVASVLLTAPEKIEECNQFTYKFAEEIRRQSFGAVTPGYDFMARLRSGMESILPPS
                     AHELAQNRLHVSITNAKTRENHLVSTFSSREDLIKVLLASSFVPIYAGLKLVEYKGQK
                     WVDGGLTNALPILPVGRTVTISPFSGRLDISPQDKGQLDLYVNIAKQDIMLSLANLVR
                     LNQALFPPSKRKMESLYQCGFDDTVKFLLKENWFE"
     exon            322..416
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     exon            417..552
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     exon            553..618
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     exon            619..771
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     exon            772..3342
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      908..913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /note="hexamer: CATAAA"
     polyA_site      929
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /note="major polyA site"
     regulatory      2671..2676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /note="hexamer: AATAAA"
     polyA_site      2699
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
     regulatory      2703..2708
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /note="hexamer: AAGAAA"
     polyA_site      2727
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
     polyA_site      2904
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
     regulatory      3321..3326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
                     /note="hexamer: ATTAAA"
     polyA_site      3342
                     /gene="PNPLA4"
                     /gene_synonym="DXS1283E; GS2; iPLA2eta"
ORIGIN      
        1 actttcctgg gccggctcgc ggagagcgta gcgcggcctt ggtggcggaa tggcgttgag
       61 tgacggcccg gccccgccat ctggttaaag ggactcgttc aacacggaag tgtcccgggg
      121 ctgcattgtg ctacagctag aatgaagcac atcaacctat catttgcagc gtgtggattt
      181 ctgggcattt accacttggg ggcagcatct gcactttgca gacatggcaa aaaacttgtg
      241 aaggatgtca aagccttcgc tggggcgtct gcgggatcgt tggttgcttc tgttctgcta
      301 acagcaccag aaaaaataga ggaatgtaac caatttacct acaagtttgc cgaagaaatc
      361 agaaggcagt ctttcggggc agtaacgccc ggttatgact tcatggcccg actaagaagt
      421 gggatggagt cgattcttcc tcccagcgct cacgagctgg cccagaaccg actgcacgta
      481 tccatcacca acgccaaaac cagagaaaat cacttagtct ccactttttc ctccagggag
      541 gacctcatta aggtcctcct agccagcagt tttgtgccca tttatgcagg actgaagcta
      601 gtggaataca aagggcagaa gtgggtggac ggaggcctca ccaacgctct tcccatcctg
      661 cccgtcggcc ggacagtaac catctccccc ttcagtggac gactggacat ctccccgcag
      721 gacaaagggc agctagatct gtatgttaat atcgccaagc aggatatcat gttgtccctg
      781 gcaaacctgg tgagactcaa ccaagccctt tttcccccaa gcaagaggaa aatggaatct
      841 ttgtatcagt gtggttttga tgacactgtt aagtttttac ttaaagaaaa ttggtttgaa
      901 taaaatgcat aaaagtttat aatgcaaaac acgttttaga tagtttttga tggaagtttc
      961 taatcaaatc ctttttagaa aatctatcat gactcaattg tattactcct tgtaatattt
     1021 gtgtttattt ttaatatttg aattattact tagcacatgg atataagagg cactttatta
     1081 gaatttgaca acgtcattaa gaaggataca cttaggtgat aaggaatcat ttttggtgaa
     1141 ctgttgtgtc ctttaaaaaa tggaggagga taggttcttt gggtaaattg aggaacatgg
     1201 aaaatggagg gccaccactt aggttccatg gagaatatgt ggcatgatct tgacgtgaag
     1261 catgggtgtt tccgtgactt agctgtgtcc ctgtagctct ggaactgaag gaactaggta
     1321 ggagaggaag gatttgagaa ataggcaact catggttaaa gacctttgat caggactgga
     1381 ggaacaaagg tttgtgtatt agtccatttt cacactgctg agaaagacat acccaagact
     1441 gggcaattta caaaagaaag gtttaatggg ctcacagttc cacatgactg aggaggcctc
     1501 acaattgtgg tggaaggtga aaggcatgtc tcacatggca gcagacaaga gaagaaaact
     1561 tgtgcaggga aactcccctt tataaaacca tcggatctct tgagactcgt tcactatcat
     1621 gagaatagca tgggaaagac ctgcctccat gattcagtta cctcccactg ggtccctccc
     1681 acaacgtgtg gcaattgtgg gagctacata cacttcaaga tgagatttgg gtggggacac
     1741 agccaaacca taacagtttg ctttccacag gtgtgtgcag ttgctcccag tgcagttagg
     1801 ggcagatatc cagaagccta ggagattttg aagaggctta tcccctctca tcttcctccc
     1861 ctaaacccca ccccagttta ggagattatc aagctggttg tcattcattc tctctctctc
     1921 tctctctctc tctctctctc tctctctctc tctctctctc tcgccatacc tctctgagta
     1981 tttagctatt gttctatata ctggatacat ctattatggg aacttaaata gataaaatac
     2041 tactaaacac aaagaaccaa gtagcctagt aaataagaat taaatccaga ataatcattc
     2101 acttctcatt tttaaatcac gttgtactga tcccaggttt tttactttct gagtagttgt
     2161 ccatcacttt gaggacttgt gtatgggctt gtaccaattt actgacactg tcttaaatcc
     2221 taaatctgtt tttatgaggt tttgccaagc aagaactctt gattactaag aggcagttag
     2281 agacaaacca atttaattcc atgtcttcaa ttgtcacgca tttcttcttt tactctttga
     2341 aactattctt tgagtcaatt ttatggttct cagaagccaa aatacacaac ttttagcaca
     2401 taaacaccaa cgatggcctc tttttgagga gttatgcata gacccactct agagtaatga
     2461 tggtccctgt ggtatatact ttctcctact ctagcaaaca tgtagtttaa tcttaatgtg
     2521 ttgtttccat aagtgacatg aagtggatag attctcaatt gttatgtcca cttattcact
     2581 aggtaaattt tcagttttaa tacttttctc cttacccctt cctttgatca tttcatgtga
     2641 atattctatt tgtatgatac actgtatttc aataaattcc ttgttgatgt acccttaaat
     2701 tgaagaaatt taagctgcaa aaccaaatct cattgtataa gacttttttg aagtatcttg
     2761 tatcgactac atatgtattt gaccctgtgg gaggatggta cttttctttt taacttttat
     2821 tttaagttca ggggtacgtg tacaggtttg ttataggtaa acttgtgtca cgggggtttg
     2881 ttgtaaagat taatttatca cccaggtgtt ggtacttttc tttaaaaata ctgtaagatc
     2941 attgacgtat cagtctgcag caactttcct acatgagggg aatacagcgg tgtaatgaaa
     3001 cacatacttg gtgcacacta ggcgctctcc ggggctggtg caccaaattc tcctgtgagc
     3061 atgctaccaa gcatgctctg cttacctttg ctggagtgtg tgctcatgca gccatactaa
     3121 ttgaaaacag gcattcacaa caggatctgc ctcacttgtg ggatcaaaat tttgaggcat
     3181 tgtagaactg gcatatagaa aatctgaaag gagtttctga cccagatact gatatgtttg
     3241 cagggtaatt actgtgattg gcagcttgat aaattcccaa ttccctgtgg gggcaatttc
     3301 cttatatatt tgaatctgtc attaaaaatg tcattagtct tc
//
