LOCUS       NM_001374623            4188 bp    mRNA    linear   PRI 19-FEB-2025
DEFINITION  Homo sapiens patatin like domain 1, omega-hydroxyceramide
            transacylase (PNPLA1), transcript variant 4, mRNA.
ACCESSION   NM_001374623 XM_011514519
VERSION     NM_001374623.1
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 4188)
  AUTHORS   Rossel,S.V.J., Clabbers,J.M.K., Steijlen,P.M., van den Akker,P.C.,
            Spuls,P.I., Middelkamp Hup,M.A., van Maarle,M.C., Vreeburg,M.,
            Bolling,M.C., van Geel,M. and Gostynski,A.
  TITLE     Expanding the molecular and clinical spectrum of autosomal
            recessive congenital ichthyosis caused by pathogenic variants in
            NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions
  JOURNAL   J Eur Acad Dermatol Venereol 37 (12), e1405-e1409 (2023)
   PUBMED   37458571
  REMARK    GeneRIF: Expanding the molecular and clinical spectrum of autosomal
            recessive congenital ichthyosis caused by pathogenic variants in
            NIPAL4 and PNPLA1 and evaluation of novel therapeutic
            interventions.
REFERENCE   2  (bases 1 to 4188)
  AUTHORS   Nohara,T., Ohno,Y. and Kihara,A.
  TITLE     Impaired production of skin barrier lipid acylceramides and
            abnormal localization of PNPLA1 due to ichthyosis-causing mutations
            in PNPLA1
  JOURNAL   J Dermatol Sci 107 (2), 89-94 (2022)
   PUBMED   35970721
  REMARK    GeneRIF: Impaired production of skin barrier lipid acylceramides
            and abnormal localization of PNPLA1 due to ichthyosis-causing
            mutations in PNPLA1.
REFERENCE   3  (bases 1 to 4188)
  AUTHORS   Li,L., Liu,W., Xu,Y., Li,M., Tang,Q., Yu,B., Cai,R. and Liu,S.
  TITLE     Targeted regions sequencing identified four novel PNPLA1 mutations
            in two Chinese families with autosomal recessive congenital
            ichthyosis
  JOURNAL   Mol Genet Genomic Med 8 (2), e1076 (2020)
   PUBMED   31833240
  REMARK    GeneRIF: Targeted regions sequencing identified four novel PNPLA1
            mutations in two Chinese families with autosomal recessive
            congenital ichthyosis.
REFERENCE   4  (bases 1 to 4188)
  AUTHORS   Watanabe,N., Kono,M., Suganuma,M., Tanahashi,K. and Akiyama,M.
  TITLE     Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor
            from atopic dermatitis
  JOURNAL   J Dermatol Sci 97 (1), 86-88 (2020)
   PUBMED   31864761
  REMARK    GeneRIF: Homozygous variant p.Ser427Pro in PNPLA1 is a preventive
            factor from atopic dermatitis.
REFERENCE   5  (bases 1 to 4188)
  AUTHORS   Grall,A., Guaguere,E., Planchais,S., Grond,S., Bourrat,E.,
            Hausser,I., Hitte,C., Le Gallo,M., Derbois,C., Kim,G.J.,
            Lagoutte,L., Degorce-Rubiales,F., Radner,F.P., Thomas,A., Kury,S.,
            Bensignor,E., Fontaine,J., Pin,D., Zimmermann,R., Zechner,R.,
            Lathrop,M., Galibert,F., Andre,C. and Fischer,J.
  TITLE     PNPLA1 mutations cause autosomal recessive congenital ichthyosis in
            golden retriever dogs and humans
  JOURNAL   Nat Genet 44 (2), 140-147 (2012)
   PUBMED   22246504
  REMARK    GeneRIF: One missense and one nonsense mutation in the catalytic
            domain of human PNPLA1 were found in six individuals with autosomal
            recessive congenital ichthyoses from two families.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4188)
  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   7  (bases 1 to 4188)
  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: PNPLA1 exhibited a modest effect on obesity
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4188)
  AUTHORS   De Chaudhuri,S., Ghosh,P., Sarma,N., Majumdar,P., Sau,T.J.,
            Basu,S., Roychoudhury,S., Ray,K. and Giri,A.K.
  TITLE     Genetic variants associated with arsenic susceptibility: study of
            purine nucleoside phosphorylase, arsenic (+3) methyltransferase,
            and glutathione S-transferase omega genes
  JOURNAL   Environ Health Perspect 116 (4), 501-505 (2008)
   PUBMED   18414634
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   9  (bases 1 to 4188)
  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
REFERENCE   10 (bases 1 to 4188)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z84484.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 7, 2019 this sequence version replaced XM_011514519.2.
            
            Summary: The protein encoded by this gene belongs to the
            patatin-like phospholipase (PNPLA) family, which is characterized
            by the presence of a highly conserved patatin domain. PNPLA family
            members have diverse lipolytic and acyltransferase activities, and
            are key elements in lipid metabolism. While other members of this
            family have been well characterized, the function of this gene
            remained an enigma. However, recent studies show that this gene is
            expressed in the skin epidermal keratinocytes, and has a role in
            glycerophospholipid metabolism in the cutaneous barrier. Consistent
            with these observations, mutations in this gene are associated with
            ichthyosis in human (autosomal recessive congenital ichthyoses,
            ARCI) and dog. Alternatively spliced transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jun 2012].
            
            Transcript Variant: This variant (4) represents the longest
            transcript and encodes the longest isoform (4).
            
            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.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA2145893,
                              SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000636260.2/ ENSP00000490785.2
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-605               Z84484.1           18837-19441
            606-838             Z84484.1           40097-40329
            839-904             Z84484.1           41838-41903
            905-1114            Z84484.1           42967-43176
            1115-1175           Z84484.1           44141-44201
            1176-1784           Z84484.1           50638-51246
            1785-1869           Z84484.1           55069-55153
            1870-1995           Z84484.1           56364-56489
            1996-4188           Z84484.1           60540-62732
FEATURES             Location/Qualifiers
     source          1..4188
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..4188
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /note="patatin like domain 1, omega-hydroxyceramide
                     transacylase"
                     /db_xref="GeneID:285848"
                     /db_xref="HGNC:HGNC:21246"
                     /db_xref="MIM:612121"
     exon            1..605
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             401..2119
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /EC_number="2.3.1.296"
                     /note="isoform 4 is encoded by transcript variant 4;
                     patatin-like phospholipase domain-containing protein 1;
                     patatin like phospholipase domain containing 1;
                     omega-hydroxyceramide transacylase"
                     /codon_start=1
                     /product="omega-hydroxyceramide transacylase isoform 4"
                     /protein_id="NP_001361552.1"
                     /db_xref="CCDS:CCDS93903.1"
                     /db_xref="GeneID:285848"
                     /db_xref="HGNC:HGNC:21246"
                     /db_xref="MIM:612121"
                     /translation="MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLE
                     TAHRFAGTSAGAVIAALAICGIEMDEYLRVLNVGVAEVKKSFLGPLSPSCKMVQMMRQ
                     FLYRVLPEDSYKVTTGKLHVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGL
                     IPPTYRGVRYIDGGFTGMQPCAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSF
                     QFSLENIARMTHALFPPDLVILHDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVE
                     VYCQIELALGNECPERSQPSLRARQASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQT
                     LEFTCESPVSAPVSPLEQPPAQPLASSTPLSLSGMPPVSFPAVHKPPSSTPGSSLPTP
                     PPGLSPLSPQQQVQPSGSPARSLHSQAPTSPRPSLGPSTVGAPQTLPRSSLSAFPAQP
                     PVEELGQEQPQAVALLVSSKPKSAVPLVHVKETVSKPYVTESPAEDSNWVNKVFKKNK
                     QKTSGTRKGFPRHSGSKKPSSKVQSAPCPLNFPLLSTSETVWVTYRPHPSRIQECCPE
                     VWNSLG"
     exon            606..838
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            839..904
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1114
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1175
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1784
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1869
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1870..1995
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1996..4188
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4161..4166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /note="hexamer: AATACA"
     polyA_site      4188
                     /gene="PNPLA1"
                     /gene_synonym="ARCI10; dJ50J22.1"
                     /note="major polyA site"
ORIGIN      
        1 gggcatggcc ctgtgctggg gagcagtgaa tgcgccctgg tataccatgg atgggcagag
       61 ggctgaggat cccgtgcccg agatgaatct agccaagaaa tgaagccagt ggggggctca
      121 caggaccaag accctgctca cacaccgggg gagccttctg catctcattc tggggcccct
      181 ttccaacctt tggagttgcc tcctggcgga gcttaacagg ctgaggcagc ttcctgagca
      241 gcctgtggtt gctccagccg ggtagagaca gccacattcc aagctccggg gtggcaggga
      301 agctgggtag ggagttccta cagggagcgg cagcccaggc tcgggcaggc aagtgctgaa
      361 gggtggctcc gccttccgca gaaagtcaga ggccgaggag atggaagaac aggtgttcaa
      421 gggggacccg gacacccctc actccatctc cttctcgggc agtggattcc tctccttcta
      481 ccaggcgggg gctgtggacg ccctgcggga cctggccccc cggatgctgg aaacagccca
      541 ccgctttgcg gggacatcgg caggtgctgt gatcgccgcc ctggccatct gcgggattga
      601 aatggatgag tatctcagag tcctcaacgt gggtgtggcc gaggtgaaga aatccttcct
      661 ggggcccttg tccccgtcct gtaagatggt gcagatgatg aggcagtttc tgtaccgggt
      721 cctgcccgag gactcctaca aggtcaccac ggggaagctc catgtgagcc tcacccgctt
      781 aacggacggg gagaatgtgg tggtttcaga gttcacgtcc aaggaggagc tcattgaggc
      841 cctatactgc agctgcttcg tcccggtgta ctgtggcctc atccccccga cttaccgcgg
      901 tgtgaggtac atcgatgggg gcttcacggg catgcagccc tgtgccttct ggaccgacgc
      961 catcaccatc tccaccttca gtgggcagca ggacatctgt ccccgggact gcccggccat
     1021 cttccacgac ttccgcatgt tcaactgctc cttccagttc tccctggaga acatcgccag
     1081 gatgacccac gcattgttcc ccccggacct ggtgatcctg cacgattact actaccgagg
     1141 gtacgaggat gcagttttgt acttgaggcg gctgaatgct gtttatctta attcttcctc
     1201 caagagagtg attttccccc gggtggaagt gtactgccag atagaactcg cccttggcaa
     1261 tgagtgccct gaacgcagtc aaccaagcct tcgagcacgg caggccagtc tggaaggagc
     1321 cacacaacct cacaaggagt gggttcccaa aggggatgga aggggcagcc atggtccgcc
     1381 tgtgtcccaa cctgtgcaga cacttgaatt cacatgcgag tcacctgttt cagcaccagt
     1441 ctctccactt gagcagccac ctgcacagcc actggcctct tcaactccac tttctctaag
     1501 tggcatgcca cctgtatcat tcccagctgt gcacaagcca cccagctcca cacctggttc
     1561 atcactgccc accccaccac ctggactgtc acctctgtca cctcagcagc aggtacaacc
     1621 gtctggatca ccagccagat ccctacactc tcaggcaccc acttcaccca ggccatccct
     1681 ggggccttca actgtggggg cacctcaaac actgccccga agttctcttt cagccttccc
     1741 tgctcagcca cctgtggagg aactaggcca agaacagccc caagctgtag ctcttcttgt
     1801 ctcttcaaaa ccaaaaagcg ccgtgcctct ggttcatgtg aaggaaaccg tcagcaagcc
     1861 ttatgtaacg gagagccctg ctgaagactc aaactgggtg aataaggtct tcaagaagaa
     1921 caagcaaaag acaagtggca ccagaaaagg cttcccaaga cattcgggat ccaaaaaacc
     1981 aagcagcaaa gtgcagtctg ctccctgccc actcaacttc cctctgctct ccacttctga
     2041 gacagtttgg gtcacctaca gacctcatcc cagccggatc caggaatgct gccctgaagt
     2101 gtggaattcc ttaggatgac cttggaaggc agatactgcc tgtcctgttc tgggatgctg
     2161 tggtgactcc tgggtctcat tgatccagct ccttttattc tcccaccttc ccttcctggt
     2221 catagtcaag gtcaacacta gcccaggcag taccttttat actaagaaaa tagcacctct
     2281 tcctggagaa cctgactacc agccgctgga aaattgtcat aatatgctga ttttgttaga
     2341 gcaagacact tgactgacaa ctgctagaaa actacaaaga acatgcacag acatgcataa
     2401 gtctgcgaat cgcctacccc ttttatatgg cactgtaccc ttgtatagtg taaaatctgc
     2461 acaactgtac tcagccatcc ggagaccact tcagccccat ccccttccta aaaaaacaag
     2521 tatcagttga actttcatac atggaatgat gtttcaaaca cccttttatc acctcccact
     2581 ggagattaca tttgcaagca gcaaaagacc cctgtgtaat gaaatgaacc ccctaactgg
     2641 cttttggtgt agcttgagat ttccaatttc catgcattgg ctataacagg cctggctacc
     2701 tgctgagggt tgcccaaggt gtatgaacct gtaagggtga tccccggtgg aactaaggtt
     2761 agggaagtcc tagatggggg atttcctagg aagctgtgag ccgagagaga gaacgggagc
     2821 tggaacggga gagaacctga ggaccctgag gccaagcctg cttctcactg ctgtccggca
     2881 cactcccctg actctgggcc cttttgagga ccaggggcaa cacctattcc cagccccgat
     2941 ggtgcacaag atctgtttcc cttccagggt gagcatctca gcttcctgcg atcctttcaa
     3001 cccttccact accctactct ggacagactg atggatgcca gcactgatcg gcactcatgg
     3061 accttcctct caaccttggc ctgagcttgc ttctttgaga tgagccagat catttctagt
     3121 ctccccagga tcctgtccaa gggcaaaact cttgggggcc cagcaggact gagccaacga
     3181 cacgcttcct ctttcttgtg gtggcaggag cccaagttct ggttgtttgg tttttaattc
     3241 ttacagtgta ctaacggctt ggcctgagct ggtcactgga atcgctggct gaatttggtc
     3301 aggcagccca ggcattgaga tctttagagc tcccccggga ttatgtggtg ctgtggtgtt
     3361 gagacaggct gccctggagt cctgggtggc tgtagaggaa gaaggaggcc aaatgtccct
     3421 cccctgcagc caacacaaat gagggctctc tgtctgctgt tcacacctca gtgaaaatgt
     3481 tccgtgagga ggacaacttc agcctcaatt tttccagcct gtccagaaaa taattgcccc
     3541 cctcctcccc agagagcaga caacctccag gtcccgccag gcccagcaag gaagccccag
     3601 ctgcccacag gcctcaggta catttgctta ccaaatcctg aaatgcaaaa cccagaatga
     3661 atgggtggag gaccatacta aactgccctt tggagcctga ggagaccata tgcaaattta
     3721 agcctggtgg ggctggggat ttagagggtt ggggcttggc tgcggcaaca gaccccactt
     3781 aacacagcca ttccagggaa caaaatgtac ttttgagacc ctgaaaatgg tcaaagtccc
     3841 aggggtcttg catcctctgc ctactctggt tgatctgtgg ccacaccagt caaaggaagc
     3901 agctggaggt gtgtactgtg ggggagactg actagagagg cccgcccggc cgcaggcctt
     3961 tcttccagga gtggcctcca tgtttgcaga agcctgaggc ctgggaaact agggggagga
     4021 gagtgtcctc tcttgcacag cccaggaatg cttgttccct gggacccaag gaagactcga
     4081 acttaatcat aattattgtt ttaattcaaa gtctgtattt agagcccaga tgctcttaat
     4141 gtcaattatg ttaaactatt aatacatcct cttgcatact tcccttca
//
