LOCUS       NM_001034885            4483 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus patatin-like phospholipase domain containing 1
            (Pnpla1), mRNA.
ACCESSION   NM_001034885 XM_484618 XM_915593
VERSION     NM_001034885.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4483)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4483)
  AUTHORS   Meyer,J.M., Vavrova,K., Radner,F.P.W., Schneider,H., Dick,A.,
            Mauro,T.M. and Elias,P.M.
  TITLE     ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid Lamellar
            Organization
  JOURNAL   J Invest Dermatol 143 (2), 332-335 (2023)
   PUBMED   36116510
  REMARK    GeneRIF: ALOX12B and PNPLA1 Have Distinct Roles in Epidermal Lipid
            Lamellar Organization.
REFERENCE   3  (bases 1 to 4483)
  AUTHORS   Zou,J., Wang,W., Lu,Y., Ayala,J., Dong,K., Zhou,H., Wang,J.,
            Chen,W., Weintraub,N.L., Zhou,J., Li,J. and Su,H.
  TITLE     Neddylation is required for perinatal cardiac development through
            stimulation of metabolic maturation
  JOURNAL   Cell Rep 42 (1), 112018 (2023)
   PUBMED   36662623
REFERENCE   4  (bases 1 to 4483)
  AUTHORS   Kato,A., Ito,M., Sanaki,T., Okuda,T., Tsuchiya,N., Yoshimoto,R. and
            Yukioka,H.
  TITLE     Acsl1 is essential for skin barrier function through the activation
            of linoleic acid and biosynthesis of omega-O-acylceramide in mice
  JOURNAL   Biochim Biophys Acta Mol Cell Biol Lipids 1867 (2), 159085 (2022)
   PUBMED   34813948
REFERENCE   5  (bases 1 to 4483)
  AUTHORS   Miyamoto,M., Itoh,N., Sawai,M., Sassa,T. and Kihara,A.
  TITLE     Severe Skin Permeability Barrier Dysfunction in Knockout Mice
            Deficient in a Fatty Acid omega-Hydroxylase Crucial to Acylceramide
            Production
  JOURNAL   J Invest Dermatol 140 (2), 319-326 (2020)
   PUBMED   31356814
REFERENCE   6  (bases 1 to 4483)
  AUTHORS   Oberbeck,N., Pham,V.C., Webster,J.D., Reja,R., Huang,C.S.,
            Zhang,Y., Roose-Girma,M., Warming,S., Li,Q., Birnberg,A., Wong,W.,
            Sandoval,W., Komuves,L.G., Yu,K., Dugger,D.L., Maltzman,A.,
            Newton,K. and Dixit,V.M.
  TITLE     The RIPK4-IRF6 signalling axis safeguards epidermal differentiation
            and barrier function
  JOURNAL   Nature 574 (7777), 249-253 (2019)
   PUBMED   31578523
REFERENCE   7  (bases 1 to 4483)
  AUTHORS   Pichery,M., Huchenq,A., Sandhoff,R., Severino-Freire,M.,
            Zaafouri,S., Opalka,L., Levade,T., Soldan,V., Bertrand-Michel,J.,
            Lhuillier,E., Serre,G., Maruani,A., Mazereeuw-Hautier,J. and
            Jonca,N.
  TITLE     PNPLA1 defects in patients with autosomal recessive congenital
            ichthyosis and KO mice sustain PNPLA1 irreplaceable function in
            epidermal omega-O-acylceramide synthesis and skin permeability
            barrier
  JOURNAL   Hum Mol Genet 26 (10), 1787-1800 (2017)
   PUBMED   28369476
REFERENCE   8  (bases 1 to 4483)
  AUTHORS   Hirabayashi,T., Anjo,T., Kaneko,A., Senoo,Y., Shibata,A.,
            Takama,H., Yokoyama,K., Nishito,Y., Ono,T., Taya,C., Muramatsu,K.,
            Fukami,K., Munoz-Garcia,A., Brash,A.R., Ikeda,K., Arita,M.,
            Akiyama,M. and Murakami,M.
  TITLE     PNPLA1 has a crucial role in skin barrier function by directing
            acylceramide biosynthesis
  JOURNAL   Nat Commun 8, 14609 (2017)
   PUBMED   28248300
  REMARK    GeneRIF: PNPLA1 catalyses the omega-O-esterification with linoleic
            acid to form acylceramides.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4483)
  AUTHORS   Grond,S., Eichmann,T.O., Dubrac,S., Kolb,D., Schmuth,M.,
            Fischer,J., Crumrine,D., Elias,P.M., Haemmerle,G., Zechner,R.,
            Lass,A. and Radner,F.P.W.
  TITLE     PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the
            Synthesis of Omega-O-Acylceramides
  JOURNAL   J Invest Dermatol 137 (2), 394-402 (2017)
   PUBMED   27751867
  REMARK    GeneRIF: an essential role of PNPLA1 in the synthesis of
            omega-O-AcylCers in human and murine skin.
REFERENCE   10 (bases 1 to 4483)
  AUTHORS   Chang,P.A., Han,L.P., Sun,L.X. and Huang,F.F.
  TITLE     Identification mouse patatin-like phospholipase domain containing
            protein 1 as a skin-specific and membrane-associated protein
  JOURNAL   Gene 591 (2), 344-350 (2016)
   PUBMED   27267404
  REMARK    GeneRIF: results indicate PNPLA1 is a skin-specific and
            membrane-associated protein, suggesting that it may mainly play a
            role in the skin
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC140278.2.
            
            On May 2, 2007 this sequence version replaced NM_001034885.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK132521.1, BC139043.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849376, SAMN00849377
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-661               AC140278.2         53782-54442         c
            662-894             AC140278.2         35809-36041         c
            895-960             AC140278.2         35401-35466         c
            961-1170            AC140278.2         34278-34487         c
            1171-1231           AC140278.2         33357-33417         c
            1232-1924           AC140278.2         31225-31917         c
            1925-2009           AC140278.2         29290-29374         c
            2010-2132           AC140278.2         27206-27328         c
            2133-2232           AC140278.2         25905-26004         c
            2233-4483           AC140278.2         22545-24795         c
FEATURES             Location/Qualifiers
     source          1..4483
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 15.03 cM"
     gene            1..4483
                     /gene="Pnpla1"
                     /note="patatin-like phospholipase domain containing 1"
                     /db_xref="GeneID:433091"
                     /db_xref="MGI:MGI:3617850"
     exon            1..661
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     CDS             457..2256
                     /gene="Pnpla1"
                     /EC_number="2.3.1.296"
                     /note="patatin-like phospholipase domain-containing
                     protein 1"
                     /codon_start=1
                     /product="omega-hydroxyceramide transacylase"
                     /protein_id="NP_001030057.1"
                     /db_xref="CCDS:CCDS37533.1"
                     /db_xref="GeneID:433091"
                     /db_xref="MGI:MGI:3617850"
                     /translation="MDEQVFKGDPDTPHSISFSGSGFLSYYQAGAVDALRDLAPRMLD
                     TAHRFAGTSAGAVIAALVVCGIEMEKYLRVLNMGLAEVKKFFLGPLSPSCKMVQMMRQ
                     FLYDVLPEDSYKFATGKLHVSLTRVTDGENVVVSEYRSKEELIEALYCSCFVPVYCGF
                     IPPTYRGERYIDGGFTSMQPCSFWTDSITISTFSSQQDICPRDCPTIFHDFRMFNFSF
                     QFSLENITRMTHALFPPDLVILQEYYYRGYNDAVSYLRRLNAAYLDSPSKRVIFPRVE
                     VYCQIEVALGHEPPPPSLQNLPALRRSPADSSQTHAQGSPKKDRKDSHSSAAPSVQTP
                     ESGCKESVESPVSLRVSISKQPSVSPLSPAQPVPVMRPTGPRDSCPINVQTPNPERGV
                     KGALDSATERGMKDALASATDEQSTTTLPPVLLPAADSRGSKTGSSVPIGSPESPRLL
                     LRSSQGATASRATLGLPPLSPSTPPAGPPVEDLGPERPTATGSPALSQLTGSAAPGTG
                     KKAPHKPLLVEGPGEDSNTAKTMFKRKQKTNATRECFHRNAQSKKPASKLKSAPCPLN
                     FPVLPKRVWVTYKPHPSRIQDYSYPEGVSGQNS"
     exon            662..894
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            895..960
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1170
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1231
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1924
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2009
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            2010..2132
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            2133..2232
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     exon            2233..4483
                     /gene="Pnpla1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2780..2785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pnpla1"
                     /note="hexamer: ATTAAA"
     polyA_site      2798
                     /gene="Pnpla1"
                     /note="major polyA site"
ORIGIN      
        1 agcctgtcag tgagggaggc acagggcgag gcagagattt tgcaactgga tgctgagagg
       61 caccgcctct gtggacaccg tccagagcag ggtgcaggga atgccccgct cctaggtgcg
      121 ctccggatgg gtggagagcg ctgaagagcc tgtacctgac agaagtctag caagggcatg
      181 aagtgagcaa ggggtctgca ggaccacgcc cctgcccatg actctaagga ctgtctacat
      241 ttcatccagt acctggggat ccctatcagc ccttccgggg tacctctcag cagagctaaa
      301 caggcccagg cagtggctgg atgaaccacc cgtggatgcc tgactgggct ggtagagttg
      361 ccacattccc tgctcttggc tgggggagaa ggagatactg agccaaggca gacaggtgtg
      421 ggttcttcct ccgctgggag gccatagacc ccgaacatgg acgaacaggt gttcaaagga
      481 gacccagata cccctcattc catctccttc tccgggagcg ggttcctttc ctactaccag
      541 gctggggccg tggatgctct gcgagatctg gccccgagga tgctggacac agcccatcgc
      601 tttgcaggga cgtcagcggg agcggtgatt gcggccttgg tcgtctgcgg gattgagatg
      661 gagaaatacc tcagagtgct gaatatgggc ctggcggagg tgaagaagtt cttcctggga
      721 cctctgtctc cgtcctgcaa gatggtacag atgatgcgac agtttttgta cgatgtgcta
      781 ccggaggact cctacaagtt cgccaccggg aagctgcatg tgagcctcac ccgagtcacg
      841 gacggagaga acgtcgtggt ttccgagtac cgatccaagg aagagctcat cgaggccctg
      901 tattgcagct gctttgttcc tgtttactgt ggcttcatcc ccccaacgta tcggggagag
      961 agatacatcg acggtggctt cacaagcatg cagccctgtt ccttctggac agactccatc
     1021 accatctcca ccttcagcag ccagcaggac atctgtccga gagactgccc caccatcttc
     1081 catgacttcc gaatgttcaa cttctccttc cagttctccc tggagaatat cacccgcatg
     1141 acacatgcgc tgtttccccc ggacctggtg attctgcagg aatattacta tcggggatac
     1201 aatgatgctg tctcatacct gcggagactg aatgcagcgt accttgactc tcccagcaag
     1261 agagtgattt tcccgagggt tgaagtatac tgccagatag aggtcgccct tggccatgag
     1321 cccccacctc cgagtctgca gaacctgcca gccctgagga gaagcccagc agactcctca
     1381 caaacccatg cacaggggtc tcccaaaaag gacagaaagg acagccattc ctcagccgcc
     1441 ccctcagtgc agacacctga atctgggtgc aaggagtctg tggaatcacc cgtgtcacta
     1501 cgggtctcta tatccaagca accatctgta tcgccattat ccccagccca gccggtccca
     1561 gtaatgaggc ccactggccc cagggacagt tgcccaataa atgttcaaac tccaaacccg
     1621 gagcgaggag tgaagggtgc cctggactct gccacagaac gaggaatgaa ggatgctctg
     1681 gcctctgcca ctgacgagca gagcacaact accttgccac ctgtgttgct cccagctgca
     1741 gactcacgag gctcaaagac tggatcctct gtgcctattg ggtcacccga gtcccctaga
     1801 ctgctgctca gatcttccca gggagccaca gcatccaggg caacacttgg acttccgccc
     1861 ctaagtcctt caacaccacc tgctgggcca cctgtggagg atctaggccc agaacgaccc
     1921 acagctacag ggtctcccgc cttatcacag ctgacaggct cggcagcacc gggtaccggg
     1981 aagaaagccc cccacaagcc tctgctggtg gagggtcctg gtgaggattc aaatacggca
     2041 aaaacgatgt tcaagaggaa gcagaagacc aatgccacca gagagtgctt ccaccgaaat
     2101 gctcagtcca agaagccggc tagcaaactg aagtctgcac cttgtccact taactttcct
     2161 gtactcccca agagagtttg ggtcacctat aaacctcatc ccagccggat ccaagactac
     2221 agctaccccg agggagtgag tggccagaac tcctaaaccg gagcaggaga gaccccagtg
     2281 acctgggtcc agccttccac ccgaggcctg ttgggaccag gggtgccctc agccatccag
     2341 tgctacagaa agtctactcc cccaagtttg ggtgtcctgg tctgaagagt ctcctgcttc
     2401 cagtcttgct atcctcccac cattctgctc tggatggaca ggcagacatc aacacatacc
     2461 actcatagtc catccatctg ggaggaggga cacaatcctg cttttgtcca atcagggggc
     2521 aagcatacat cctgactgta cttcctgttt atgtacctcc tgcctacatg tgatcaagca
     2581 catctgtgct gttggagcaa acaagcttgt ttacagaagc agaaaccagc agcttgctat
     2641 cttacataac tagcaccctc cagtatccag gaagttatct gtccttgggc tagtggggct
     2701 tataggttca tctgtccctg agcaagtggg actttcaggt tgaaaacatt tttgtttcat
     2761 agatttctta ggcacagtaa ttaaaactta agatacaact ttagcctttg cactttaagt
     2821 ctttggcaga cctgttgcag gctctatgaa agcactgaat caaataaaaa ataaaaaaga
     2881 catgactgct cccaggtatg ggggaactag tttattgaag acacatggga gaaaatagcc
     2941 agagccatct gtgagcccag agtgaatgtg accctgaggt gggccatgtg agaagggtca
     3001 ggagccaaga gaaccagatg taaagggtaa aataaacatg tagccaaatg gctggattat
     3061 atagggaaga gcagctgggg gaagggcagc ccagcaccta tgctggagag ttcatggtag
     3121 aggcccaggg aaggccagcc tggagaaccc tgtaacagct aggactgagg gatgctgagt
     3181 gcctggcctg gtcctctttg ctacattaat aggcatctca gctgagaaca aaggagcact
     3241 caagacctgg tgttaaccag tcctggcgac tggaccacag gctcagcaga tacaggcaca
     3301 aatagaccag attctaggca ggtggcacac ttgcctgggc ttcacactta cccttctgag
     3361 tctcttggtc gctgacgttg ggaaggaggg catgttttgc caaaggcggc tgtgaagaaa
     3421 gtgtaccctg cagcttgctg caaggcggag tcactctggc taggatttgg aagatgggtc
     3481 tcactctaag cctcaatctc cagcctgtct tgcagaaggt ggtccccatt gctccagccc
     3541 agccaggccc ataccacagg ccacaccagc atgtgcttac ctcaaatgct ggctttgaaa
     3601 ctgagcacct ccactgtcca aagagacaga accccccttg ttggttctct agggttctgt
     3661 tagtttcccc tgttttgagg taatatagat gtttattgca gttccagggt tggcagataa
     3721 aacccaagac gccttgtgac tgaaacctca ggcaaacacc aaacaattgt tttcctggta
     3781 gctgttcctg acatctcaat catttacctg gattcagatt tgctgggtgt agccgcctgc
     3841 agccactggg aaggtggggt tttatatggg aaaggctggg agagaaatta acgagccaag
     3901 acaaggtttt ctgattaagg ccaatgttta tttatgagtc tgagcttata aagtccacca
     3961 ccaggatctc cttgctttgt caggatagta ctgaagaaag ataaaatatt gtaacttgtg
     4021 agtttaagag cccacgcccc tgcctgggac tgagaacaaa gcagaacagc ccccaggcat
     4081 gccagggcag ggctgttgtt aaggcattcc taagaacatc ttgactgtaa agataaaaag
     4141 gtatgcaagg accagcaggg ctatattatt taagtcaaca ccatctggcc agaacctccc
     4201 ctctgtctat tgccccttga cgccaggtaa agtcatacat caactggttg ctatgtgaac
     4261 aaagataagc ccccagccca caggaacaaa gtcctgatgc cctgtgttct ttctgttaat
     4321 gtttgaataa gccaatagtg tgtcgctagg ctgaattcca cacccctgag ccccttaccc
     4381 cataaaaacc cctagctttc aagcctcgtg tccgacatcc gttatctcct gtgtgggata
     4441 catgtcagtc cagagctccg taattaaacg tcctcatgta att
//
