LOCUS       NM_203475               1867 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens porcupine O-acyltransferase (PORCN), transcript
            variant D, mRNA.
ACCESSION   NM_203475 XM_005272639 XM_005278050
VERSION     NM_203475.3
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 1867)
  AUTHORS   Pena-Oyarzun,D., Flores,T., Torres,V.A., Quest,A.F.G.,
            Lobos-Gonzalez,L., Kretschmar,C., Contreras,P.,
            Maturana-Ramirez,A., Criollo,A. and Reyes,M.
  TITLE     Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression
            of Oral Carcinogenesis
  JOURNAL   Clin Cancer Res 30 (1), 209-223 (2024)
   PUBMED   37812478
  REMARK    GeneRIF: Inhibition of PORCN Blocks Wnt Signaling to Attenuate
            Progression of Oral Carcinogenesis.
REFERENCE   2  (bases 1 to 1867)
  AUTHORS   Wu,R., Zhong,W., Chen,J. and Dou,X.
  TITLE     A novel large deletion mutation involving the PORCN gene in a
            Chinese patient with focal dermal hypoplasia and literature review
  JOURNAL   Int J Dermatol 62 (9), 1164-1167 (2023)
   PUBMED   36880456
  REMARK    GeneRIF: A novel large deletion mutation involving the PORCN gene
            in a Chinese patient with focal dermal hypoplasia and literature
            review.
            Review article
REFERENCE   3  (bases 1 to 1867)
  AUTHORS   Macyczko,J.R., Wang,N., Zhao,J., Ren,Y., Lu,W., Ikezu,T.C.,
            Zhao,N., Liu,C.C., Bu,G. and Li,Y.
  TITLE     Suppression of Wnt/beta-Catenin Signaling Is Associated with
            Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease
  JOURNAL   Mol Neurobiol 60 (1), 26-35 (2023)
   PUBMED   36215026
  REMARK    GeneRIF: Suppression of Wnt/beta-Catenin Signaling Is Associated
            with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's
            Disease.
REFERENCE   4  (bases 1 to 1867)
  AUTHORS   Liu,Y., Qi,X., Donnelly,L., Elghobashi-Meinhardt,N., Long,T.,
            Zhou,R.W., Sun,Y., Wang,B. and Li,X.
  TITLE     Mechanisms and inhibition of Porcupine-mediated Wnt acylation
  JOURNAL   Nature 607 (7920), 816-822 (2022)
   PUBMED   35831507
  REMARK    GeneRIF: Mechanisms and inhibition of Porcupine-mediated Wnt
            acylation.
REFERENCE   5  (bases 1 to 1867)
  AUTHORS   Wang,X., Reid Sutton,V., Omar Peraza-Llanes,J., Yu,Z., Rosetta,R.,
            Kou,Y.C., Eble,T.N., Patel,A., Thaller,C., Fang,P. and Van den
            Veyver,I.B.
  TITLE     Mutations in X-linked PORCN, a putative regulator of Wnt signaling,
            cause focal dermal hypoplasia
  JOURNAL   Nat Genet 39 (7), 836-838 (2007)
   PUBMED   17546030
  REMARK    GeneRIF: Sequence deletions and point mutations cause focal dermal
            hypoplasia.
REFERENCE   6  (bases 1 to 1867)
  AUTHORS   Caricasole,A., Ferraro,T., Rimland,J.M. and Terstappen,G.C.
  TITLE     Molecular cloning and initial characterization of the MG61/PORC
            gene, the human homologue of the Drosophila segment polarity gene
            Porcupine
  JOURNAL   Gene 288 (1-2), 147-157 (2002)
   PUBMED   12034504
REFERENCE   7  (bases 1 to 1867)
  AUTHORS   Tanaka,K., Okabayashi,K., Asashima,M., Perrimon,N. and Kadowaki,T.
  TITLE     The evolutionarily conserved porcupine gene family is involved in
            the processing of the Wnt family
  JOURNAL   Eur J Biochem 267 (13), 4300-4311 (2000)
   PUBMED   10866835
REFERENCE   8  (bases 1 to 1867)
  AUTHORS   Sutton,V.R.
  TITLE     PORCN-Related Developmental Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301712
REFERENCE   9  (bases 1 to 1867)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 1867)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY002842.1, AK314745.1 and
            AF317061.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_203475.2.
            
            Summary: This gene belongs to the evolutionarily conserved
            porcupine (Porc) gene family. Genes of the porcupine family encode
            endoplasmic reticulum proteins with multiple transmembrane domains.
            Porcupine proteins are involved in the processing of Wnt (wingless
            and int homologue) proteins. Disruption of this gene is associated
            with focal dermal hypoplasia, and the encoded protein has been
            implicated in cancer. Multiple alternatively spliced transcript
            variants encoding distinct isoforms have been observed. [provided
            by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (D) encodes the longest isoform
            (D).
            
            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 :: SRR3476690.245663.1,
                                           SRR7410570.689232.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326194.11/ ENSP00000322304.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                HY002842.1         35-131
            98-1535             AK314745.1         1-1438
            1536-1867           AF317061.1         1357-1688
FEATURES             Location/Qualifiers
     source          1..1867
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1867
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /note="porcupine O-acyltransferase"
                     /db_xref="GeneID:64840"
                     /db_xref="HGNC:HGNC:17652"
                     /db_xref="MIM:300651"
     exon            1..112
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            113..285
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1535
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /EC_number="2.3.1.250"
                     /note="isoform D is encoded by transcript variant D;
                     probable protein-cysteine N-palmitoyltransferase
                     porcupine; porcupine homolog; protein-serine
                     O-palmitoleoyltransferase porcupine"
                     /codon_start=1
                     /product="protein-serine O-palmitoleoyltransferase
                     porcupine isoform D"
                     /protein_id="NP_982301.1"
                     /db_xref="CCDS:CCDS14299.1"
                     /db_xref="GeneID:64840"
                     /db_xref="HGNC:HGNC:17652"
                     /db_xref="MIM:300651"
                     /translation="MATFSRQEFFQQLLQGCLLPTAQQGLDQIWLLLAICLACRLLWR
                     LGLPSYLKHASTVAGGFFSLYHFFQLHMVWVVLLSLLCYLVLFLCRHSSHRGVFLSVT
                     ILIYLLMGEMHMVDTVTWHKMRGAQMIVAMKAVSLGFDLDRGEVGTVPSPVEFMGYLY
                     FVGTIVFGPWISFHSYLQAVQGRPLSCRWLQKVARSLALALLCLVLSTCVGPYLFPYF
                     IPLNGDRLLRNKKRKARGTMVRWLRAYESAVSFHFSNYFVGFLSEATATLAGAGFTEE
                     KDHLEWDLTVSKPLNVELPRSMVEVVTSWNLPMSYWLNNYVFKNALRLGTFSAVLVTY
                     AASALLHGFSFHLAAVLLSLAFITYVEHVLRKRLARILSACVLSKRCPPDCSHQHRLG
                     LGVRALNLLFGALAIFHLAYLGSLFDVDVDDTTEEQGYGMAYTVHKWSELSWASHWVT
                     FGCWIFYRLIG"
     exon            286..478
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            479..522
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            523..704
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            705..835
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            836..853
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            854..868
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            869..994
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1095
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1172
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1236
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1322
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1433
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1867
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1846..1851
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /note="hexamer: AATAAA"
     polyA_site      1867
                     /gene="PORCN"
                     /gene_synonym="DHOF; FODH; MG61; PORC; PPN"
                     /note="major polyA site"
ORIGIN      
        1 gggagccgct gctggtcccg gccttgcggc ctgcggggga ggctgcccgg aggaggcagc
       61 ggcggcggca gcgcgtcctc ggtccccagg accacggctt ctttcctgcc agatctatcc
      121 atctggccat ccatccgtgg gggtctgcaa tggccacctt tagccgccag gaatttttcc
      181 agcagctact gcaaggctgt ctcctgccta ctgcccagca gggccttgac cagatctggc
      241 tgctccttgc catctgcctc gcctgccgcc tcctctggag gctcgggttg ccatcctacc
      301 tgaagcatgc aagcaccgtg gcaggcgggt tcttcagcct ctaccacttc ttccagctgc
      361 acatggtttg ggtcgtgctg ctcagcctcc tgtgctacct cgtgctgttc ctctgccgac
      421 attcctccca tcgaggcgtc ttcctatccg tcaccatcct catctaccta ctcatgggtg
      481 agatgcacat ggtagacacc gtgacatggc acaagatgcg aggggcacag atgattgtgg
      541 ccatgaaggc agtgtctctg ggcttcgacc tggaccgggg cgaggtgggt acggtgccct
      601 cgccagtgga gttcatgggc tacctctact tcgtgggcac catcgtcttc gggccctgga
      661 tatccttcca cagctaccta caagctgtcc aaggccgccc actgagctgc cggtggctgc
      721 agaaggtggc ccggagcctg gcactggccc tgctgtgcct tgtgctgtcc acttgcgtgg
      781 gcccctacct cttcccgtac ttcatccccc tcaacggtga ccgcctcctt cgcaacaaga
      841 aacgcaaagc caggggcacc atggtaaggt ggctgcgagc ctacgagagt gctgtctcct
      901 tccacttcag caactatttt gtgggctttc tttccgaggc cacggccacg ttggcggggg
      961 ctggctttac cgaggagaag gatcacctgg aatgggacct gacggtgtcc aagccactga
     1021 atgtggagct gcctcggtca atggtggaag ttgtcacaag ctggaacctg cccatgtctt
     1081 attggctaaa taactatgtt ttcaagaatg ctctccgcct ggggaccttc tcggctgtgc
     1141 tggtcaccta tgcagccagc gccctcctac atggcttcag tttccacctg gctgcggtcc
     1201 tgctgtccct ggcttttatc acttacgtgg agcatgtcct ccggaagcgc ctggctcgga
     1261 tcctcagtgc ctgtgtcttg tcaaagcggt gcccgccaga ctgttcgcac cagcatcgct
     1321 tgggcctggg ggtgcgagcc ttaaacttgc tctttggagc tctggccatc ttccacctgg
     1381 cctacctggg ctccctgttt gatgtcgatg tggatgacac cacagaggag cagggctacg
     1441 gcatggcata cactgtccac aagtggtcag agctcagctg ggccagtcac tgggtcactt
     1501 ttggatgctg gatcttctac cgtctcatag gctgaggcac atctgtggac cctcataacc
     1561 ctcttaagac ccctctcagg gtgccactga tgggggatga gggaaggccc tctctctact
     1621 ccttgacccc ctccatcctt gacccccaac acctcaacac acacacacac acacacacac
     1681 aaaatcacac cattttcatg cctgtcaatc cccaccccac cacaaggcag gaagggggtg
     1741 gtgcctgctg gggcctagag ggggatgctt ggggaaacag agaaggggag atccagggcc
     1801 tccccgcctt ccttcttcct ttttatatac aatttgttat tgtcaaataa aagtaggaaa
     1861 tattcaa
//
