LOCUS       NM_138814               2540 bp    mRNA    linear   PRI 19-FEB-2025
DEFINITION  Homo sapiens patatin like domain 5, triacylglycerol lipase
            (PNPLA5), transcript variant 1, mRNA.
ACCESSION   NM_138814
VERSION     NM_138814.4
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 2540)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2540)
  AUTHORS   Ye,Z., Vasco,D.A., Carter,T.C., Brilliant,M.H., Schrodi,S.J. and
            Shukla,S.K.
  TITLE     Genome wide association study of SNP-, gene-, and pathway-based
            approaches to identify genes influencing susceptibility to
            Staphylococcus aureus infections
  JOURNAL   Front Genet 5, 125 (2014)
   PUBMED   24847357
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2540)
  AUTHORS   Dupont,N., Chauhan,S., Arko-Mensah,J., Castillo,E.F.,
            Masedunskas,A., Weigert,R., Robenek,H., Proikas-Cezanne,T. and
            Deretic,V.
  TITLE     Neutral lipid stores and lipase PNPLA5 contribute to autophagosome
            biogenesis
  JOURNAL   Curr Biol 24 (6), 609-620 (2014)
   PUBMED   24613307
  REMARK    GeneRIF: required for optimal autophagy initiation
REFERENCE   4  (bases 1 to 2540)
  AUTHORS   Kienesberger,P.C., Oberer,M., Lass,A. and Zechner,R.
  TITLE     Mammalian patatin domain containing proteins: a family with diverse
            lipolytic activities involved in multiple biological functions
  JOURNAL   J Lipid Res 50 Suppl (Suppl), S63-S68 (2009)
   PUBMED   19029121
  REMARK    Review article
REFERENCE   5  (bases 1 to 2540)
  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 PNPLA5 genes
            and childhood and adolescent obesity
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2540)
  AUTHORS   Gao,J.G. and Simon,M.
  TITLE     A comparative study of human GS2, its paralogues, and its rat
            orthologue
  JOURNAL   Biochem Biophys Res Commun 360 (2), 501-506 (2007)
   PUBMED   17603008
REFERENCE   7  (bases 1 to 2540)
  AUTHORS   Wilson,P.A., Gardner,S.D., Lambie,N.M., Commans,S.A. and
            Crowther,D.J.
  TITLE     Characterization of the human patatin-like phospholipase family
  JOURNAL   J Lipid Res 47 (9), 1940-1949 (2006)
   PUBMED   16799181
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK127172.1 and BC031820.2.
            
            On Jul 11, 2019 this sequence version replaced NM_138814.3.
            
            Summary: This gene is a member of the patatin-like phospholipase
            family; its encoded protein has been shown to inhibit
            transacylation. Multiple transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Apr
            2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC031820.2, AK056648.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA2145743,
                                           SAMEA2145893 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216177.9/ ENSP00000216177.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AK127172.1         2-37
            37-2540             BC031820.2         1-2504
FEATURES             Location/Qualifiers
     source          1..2540
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..2540
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /note="patatin like domain 5, triacylglycerol lipase"
                     /db_xref="GeneID:150379"
                     /db_xref="HGNC:HGNC:24888"
                     /db_xref="MIM:611589"
     exon            1..326
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..1423
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /EC_number="3.1.1.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     patatin-like phospholipase domain-containing protein 5;
                     GS2-like protein; patatin like phospholipase domain
                     containing 5"
                     /codon_start=1
                     /product="patatin-like phospholipase domain-containing
                     protein 5 isoform 1"
                     /protein_id="NP_620169.1"
                     /db_xref="CCDS:CCDS14053.1"
                     /db_xref="GeneID:150379"
                     /db_xref="HGNC:HGNC:24888"
                     /db_xref="MIM:611589"
                     /translation="MGFLEEEGRWNLSFSGAGYLGAHHVGATECLRQRAPRLLQGARR
                     IYGSSSGALNAVSIVCGKSVDFCCSHLLGMVGQLERLSLSILHPAYAPIEHVKQQLQD
                     ALPPDAHVLASQRLGISLTRWPDGRNFLVTDFATCDELIQALVCTLYFPFYCGLIPPE
                     FRGERYIDGALSNNLPFADCPSTITVSPFHGTVDICPQSTSPNLHELNVFNFSFQIST
                     ENFFLGLICLIPPSLEVVADNCRQGYLDALRFLERRGLTKEPVLWTLVSKEPPAPADG
                     NWDAGCDQRWKGGLSLNWKVPHVQVKDVPNFEQLSPELEAALKKACTRDPSRWARFWH
                     SGPGQVLTYLLLPCTLPFEYIYFRSRRLVVWLPDVPADLWWMQGLLRNMALEVFSRTK
                     AQLLGPISPPATRVLETSPLQPQIAPHREELGPTHQA"
     exon            327..559
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            560..625
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            626..835
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            836..896
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1082
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1215
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1332
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..2540
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2517..2522
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /note="hexamer: AATAAA"
     polyA_site      2540
                     /gene="PNPLA5"
                     /gene_synonym="dJ388M5; dJ388M5.4; GS2L"
                     /note="major polyA site"
ORIGIN      
        1 agcaccagcc ccagcccggc tccctccaga gcccacattt gggcccagcc ccgtccaagg
       61 ctgcatcccg gccctatccc gggtcacgga gtgacccttc ctcgtcccga tcaccccgcc
      121 cggtccaccc gccatgggct tcttagagga ggagggcaga tggaacctgt ccttctccgg
      181 cgccggctac ctgggcgccc accacgtggg cgccaccgaa tgcctgcgcc agcgagcccc
      241 gcgcctcctc cagggcgccc gccgcatcta cggttcctcg tctggggcgc tcaacgcagt
      301 cagcatcgtc tgcggcaagt cggtcgactt ctgctgctcc cacctcctgg gcatggttgg
      361 gcagttggag cggctgagcc taagcatcct gcacccggcc tacgcgccca tcgagcacgt
      421 caagcagcag ctgcaggatg ctctgccccc cgacgcccac gtcctggcct cccagcggct
      481 gggcatttcg ctgacccgct ggcctgacgg acgcaacttc ttggtcactg acttcgccac
      541 ctgcgatgag ctcatccagg ccttggtctg caccttatac tttcctttct actgcgggct
      601 gatccccccc gagttcagag gggagcgcta catcgatggg gctctgagca acaacttgcc
      661 ctttgcagac tgcccctcca ccatcacggt gtcgcccttc catgggacag tggacatctg
      721 cccccagagc acctccccca acctgcatga gctgaacgtc ttcaacttca gcttccaaat
      781 ctccactgag aacttcttcc tggggctcat atgtctcata ccccccagcc tcgaggtagt
      841 ggccgacaac tgcagacaag gctacctgga tgccctgagg ttcctggaga gacgtggact
      901 caccaaggaa ccagtgctat ggacgctggt gtctaaggaa cccccagccc cggctgacgg
      961 aaactgggat gctggctgtg accaacgctg gaaggggggc ctgtctctca actggaaagt
     1021 gccccatgtg caagtcaagg atgtacccaa ctttgagcag ctctcaccag agctggaggc
     1081 tgcactgaag aaagcatgta cgagggatcc cagccggtgg gcccgcttct ggcactcggg
     1141 gcctggacag gtgctgacgt acctgctgct accctgcaca ctgcccttcg agtacatcta
     1201 cttccgcagc agaaggttgg tggtgtggct gcccgatgtg ccggcggact tgtggtggat
     1261 gcagggcctg ctgaggaaca tggccctcga ggttttctcc aggaccaagg cccagctcct
     1321 tgggcccatc agccctccgg ccactcgcgt cctggaaaca agccccctcc aaccccagat
     1381 agctcctcat agagaggagc tcgggcccac ccaccaggcc tgagggggcc gagcagggcc
     1441 agcccagtga ctggtgtccc ttgattcctg ctctggcctt tgtcctgtgt gcccacatct
     1501 gccccagcgg gaagaggccc tgccaatctc cgtggagacc ctgcagcttg gagcccgttc
     1561 cttggggcgc agcctgtcag catgtccccg gtcactgtgt acccaggtca cctgccctcc
     1621 ctcttgcccc gtctcatcag ggagagaaag gaggacagcc acagagacac atgtcttact
     1681 ttcagaattt ccacgggggg actaggaggg cagcattgct ggggagaggg gctcctgttc
     1741 tgccgtggag ctgcccacgg agcacctcac agaagattga gaaagtgcct gatgcccgcg
     1801 tcagagacca gaggagccaa ctgagatgat ggggtggggg tgctcccccc agactttctc
     1861 agtcctgcag cggcccttgg gggtgacccc cggcatctac cccactcagg aaaccttgac
     1921 ttctgaattc ctatcaggtc cagagggtgg aaggccctgg caggaagcag gaggaggagg
     1981 agaggggggt ccaggtcttt tcaggatccc agctgtgggt gcttctgttg ggcccagtgg
     2041 cccctgctat ccccacagcc tcattcctgc agaaggtttg tgacgtagct gtgcctgtac
     2101 ctggggcaga gaggatgcca gggacaccag gcctctggcc tctccacgag tcactgctct
     2161 ccccattggc agcacgggac ccatgctgtg cccccggcca ggccctgagg aaatgctcag
     2221 cctcagtgga gatggggagg ttagagagat ggaggcgtga gtgagaacgg gaagcaaagg
     2281 aatacacgtg ggaactaaag agaaaaatga ccagcctggg cagcatagca agaccctgtc
     2341 tctaaaaaaa ataataaaaa cttagctggg catggtggtg catgcctgtg gtcctggcta
     2401 cttgggaggc tgaggatgga ggatcatttg agcccaggag gtcgaggctg cagtgaaccg
     2461 tgatcacgcc actgcacccc agcccaggca acaaagtgag cccctgtctc taaataaata
     2521 aagagacaat aagccactca
//
