LOCUS       NM_001346754            2816 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            W (PIGW), transcript variant 2, mRNA.
ACCESSION   NM_001346754 XM_011524646
VERSION     NM_001346754.2
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 2816)
  AUTHORS   Ronzoni,L., Boito,S., Meossi,C., Cesaretti,C., Rinaldi,B.,
            Agolini,E., Rizzuti,T., Pezzoli,L., Silipigni,R., Novelli,A.,
            Iascone,M., Persico,N. and Natacci,F.
  TITLE     Prenatal ultrasound findings associated with PIGW variants: One
            more piece in the FRYNS syndrome puzzle? PIGW-related prenatal
            findings
  JOURNAL   Prenat Diagn 42 (12), 1493-1502 (2022)
   PUBMED   35788948
  REMARK    GeneRIF: Prenatal ultrasound findings associated with PIGW
            variants: One more piece in the FRYNS syndrome puzzle? PIGW-related
            prenatal findings.
            Review article
REFERENCE   2  (bases 1 to 2816)
  AUTHORS   Peron,A., Iascone,M., Salvatici,E., Cavirani,B., Marchetti,D.,
            Corno,S. and Vignoli,A.
  TITLE     PIGW-related glycosylphosphatidylinositol deficiency: Description
            of a new patient and review of the literature
  JOURNAL   Am J Med Genet A 182 (6), 1477-1482 (2020)
   PUBMED   32198969
  REMARK    GeneRIF: PIGW-related glycosylphosphatidylinositol deficiency:
            Description of a new patient and review of the literature.
REFERENCE   3  (bases 1 to 2816)
  AUTHORS   Hogrebe,M., Murakami,Y., Wild,M., Ahlmann,M., Biskup,S.,
            Hortnagel,K., Gruneberg,M., Reunert,J., Linden,T., Kinoshita,T. and
            Marquardt,T.
  TITLE     A novel mutation in PIGW causes glycosylphosphatidylinositol
            deficiency without hyperphosphatasia
  JOURNAL   Am J Med Genet A 170 (12), 3319-3322 (2016)
   PUBMED   27626616
REFERENCE   4  (bases 1 to 2816)
  AUTHORS   Chiyonobu,T., Inoue,N., Morimoto,M., Kinoshita,T. and Murakami,Y.
  TITLE     Glycosylphosphatidylinositol (GPI) anchor deficiency caused by
            mutations in PIGW is associated with West syndrome and
            hyperphosphatasia with mental retardation syndrome
  JOURNAL   J Med Genet 51 (3), 203-207 (2014)
   PUBMED   24367057
REFERENCE   5  (bases 1 to 2816)
  AUTHORS   Murakami,Y., Siripanyapinyo,U., Hong,Y., Kang,J.Y., Ishihara,S.,
            Nakakuma,H., Maeda,Y. and Kinoshita,T.
  TITLE     PIG-W is critical for inositol acylation but not for flipping of
            glycosylphosphatidylinositol-anchor
  JOURNAL   Mol Biol Cell 14 (10), 4285-4295 (2003)
   PUBMED   14517336
REFERENCE   6  (bases 1 to 2816)
  AUTHORS   Umemura,M., Okamoto,M., Nakayama,K., Sagane,K., Tsukahara,K.,
            Hata,K. and Jigami,Y.
  TITLE     GWT1 gene is required for inositol acylation of
            glycosylphosphatidylinositol anchors in yeast
  JOURNAL   J Biol Chem 278 (26), 23639-23647 (2003)
   PUBMED   12714589
REFERENCE   7  (bases 1 to 2816)
  AUTHORS   Kinoshita,T. and Inoue,N.
  TITLE     Dissecting and manipulating the pathway for
            glycosylphos-phatidylinositol-anchor biosynthesis
  JOURNAL   Curr Opin Chem Biol 4 (6), 632-638 (2000)
   PUBMED   11102867
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC233698.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001346754.1.
            
            Summary: The protein encoded by this gene is an inositol
            acyltransferase that acylates the inositol ring of
            phosphatidylinositol. This occurs in the endoplasmic reticulum and
            is a step in the biosynthesis of glycosylphosphatidylinositol
            (GPI), which anchors many cell surface proteins to the membrane.
            Defects in this gene are a cause of the age-dependent epileptic
            encephalopathy West syndrome as well as a syndrome exhibiting
            hyperphosphatasia and cognitive disability (HPMRS5). [provided by
            RefSeq, Jul 2017].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All three variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.73982.1,
                                           SRR1163657.227927.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000614443.2/ ENSP00000482202.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-606               AC233698.3         30551-31156         c
            607-2816            AC233698.3         26840-29049         c
FEATURES             Location/Qualifiers
     source          1..2816
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..2816
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class W"
                     /db_xref="GeneID:284098"
                     /db_xref="HGNC:HGNC:23213"
                     /db_xref="MIM:610275"
     exon            1..606
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /inference="alignment:Splign:2.1.0"
     exon            607..2816
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /inference="alignment:Splign:2.1.0"
     CDS             615..2129
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /note="GPI-anchored wall protein transfer 1 homolog"
                     /codon_start=1
                     /product="phosphatidylinositol-glycan biosynthesis class W
                     protein"
                     /protein_id="NP_001333683.1"
                     /db_xref="CCDS:CCDS11313.1"
                     /db_xref="GeneID:284098"
                     /db_xref="HGNC:HGNC:23213"
                     /db_xref="MIM:610275"
                     /translation="MSEKQMKEAFVSNLNGTTVLEITQGLCFPAFCILCRGFLIIFSQ
                     YLCSFSPTWKTRFLTDFVVLIVPMVATLTIWASFILLELLGVIIFGAGLLYQIYRRRT
                     CYARLPFLKILEKFLNISLESEYNPAISCFRVITSAFTAIAILAVDFPLFPRRFAKTE
                     LYGTGAMDFGVGGFVFGSAMVCLEVRRRKYMEGSKLHYFTNSLYSVWPLVFLGIGRLA
                     IIKSIGYQEHLTEYGVHWNFFFTIIVVKLITPLLLIIFPLNKSWIIALGITVLYQLAL
                     DFTSLKRLILYGTDGSGTRVGLLNANREGIISTLGYVAIHMAGVQTGLYMHKNRSHIK
                     DLIKVACFLLLAAISLFISLYVVQVNVEAVSRRMANLAFCIWIVASSLILLSSLLLGD
                     IILSFAKFLIKGALVPCSWKLIQSPVTNKKHSESLVPEAERMEPSLCLITALNRKQLI
                     FFLLSNITTGLINLMVDTLHSSTLWALFVVNLYMFSNCLIVYVLYLQDKTVQFW"
     regulatory      2773..2778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /note="hexamer: AATAAA"
     regulatory      2784..2789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /note="hexamer: AATGAA"
     polyA_site      2802
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /note="major polyA site"
     polyA_site      2816
                     /gene="PIGW"
                     /gene_synonym="Gwt1; HPMRS5"
                     /note="major polyA site"
ORIGIN      
        1 actcgcggcg cggggcgcgc acgtggcttg gccgggacgc ctggtccggc ttgctggctt
       61 caactacggt gagatgtttt gcgaccctgg ggtaaaatga gggtaaagcg gcagcttccc
      121 acgttctggg ggagaagcgc ggaagcacgg tttcctgggc cttcgggcga caccaggact
      181 gggggtcttt cagtagaggt cgccgcggcg gagtcttgtg cgagtgcggc ggagtgttgt
      241 gcgaggccgg cggacaccat taccctgata gggcctcgcc gtgaggtctg aggggccgtg
      301 tgaggtgcat ggcgcgccgt ttcctctcca ggcgctcctc tcagggctac ggccctagaa
      361 gatctggcct gcaccagccc aaaggacatg acaggagtgg gtagcccacg ggacactggc
      421 acgagcgcca tgatgggcgg agacgcgcgg aatcggccgg cccggaagtg ccagctgcct
      481 gcgtcggccg gaagtgccgc gcgggaggcg gaagcggctg gttcccgcgt ggtttggcgg
      541 gtgcagcggc agtccggctg cccttcccac gtagaccgtc tgctgggggc gccggcacca
      601 tttggagaag aaaaatgtct gaaaagcaga tgaaggaagc ttttgtcagt aacctcaatg
      661 gaaccaccgt gctggaaatc acccagggat tgtgctttcc tgcattctgt atcctgtgca
      721 gagggttcct gatcattttc tcacagtact tgtgttcttt ttcacctacc tggaaaacta
      781 gattcctcac tgactttgtt gtcctaatag ttcccatggt agccactttg accatttggg
      841 cttcatttat cctccttgag cttctcggtg taattatctt tggggcaggg ctgttgtatc
      901 aaatataccg aaggaggacc tgctatgcca gactgccttt cctaaaaatc cttgaaaaat
      961 tcttgaacat cagtctagaa tcagaataca atccagccat ctcctgtttc cgtgtaatta
     1021 ccagtgcgtt tactgctatt gctattttgg ctgtggactt cccacttttt cccagaagat
     1081 ttgccaaaac tgagctctat gggacaggag caatggattt tggagtaggt ggctttgttt
     1141 ttgggtctgc aatggtttgt ctagaggtca ggaggagaaa atatatggaa gggtccaaat
     1201 tgcattactt tacaaactca ttgtactctg tttggccatt agtcttccta ggaatcggac
     1261 gattagccat tataaaatca ataggctatc aggaacattt aacagagtat ggagttcact
     1321 ggaacttttt ctttaccata atagttgtga aattgataac accactgctg ttgattattt
     1381 ttcccctaaa taagtcctgg attattgccc tcggcattac tgtattatac cagctagccc
     1441 ttgactttac ctcactgaag aggttaatat tatatggcac tgatggtagt ggcacacggg
     1501 ttggtctatt aaatgccaac cgcgaaggaa taatctctac cctggggtat gtggcaatac
     1561 acatggctgg tgtgcaaaca gggttatata tgcataagaa ccgatcacat atcaaagact
     1621 tgataaaagt agcctgtttt cttttactgg cagctattag cctcttcata tctctttacg
     1681 tagttcaagt aaatgtagaa gcagtatctc gaagaatggc aaatttagcc ttttgtattt
     1741 ggatagttgc ttctagcctg atccttctta gtagtttatt actgggtgat ataattttga
     1801 gttttgccaa atttctaatt aaaggagctc tagtaccatg ttcttggaaa cttatccagt
     1861 cacctgttac aaataaaaag cattcagaat ctctagtccc tgaagccgaa agaatggaac
     1921 ccagtctttg tttaatcaca gctctaaaca gaaaacagtt aatatttttc ttgctgtcaa
     1981 atataacaac tggcctgatc aacctgatgg tagatacatt acacagcagt accttgtggg
     2041 ccttatttgt ggtcaatctc tatatgtttt ccaactgttt aattgtatat gtactatatt
     2101 tgcaagataa gactgtacaa ttttggtgat cagcaggagt aggatatata agtatttggg
     2161 caatatttaa tgaggaatat taattgtaaa gaaattgtgc ttttggcaac agtgttaacc
     2221 atattttatt ataaaatagt ttcagtcatc taaacagcag tgatgcttaa ttattttttt
     2281 ttttgagaca gagtcttgct ctgttaccca ggctggagtg tagtggtgcc atctcagctc
     2341 actgcaacct ccacctcccg ggttcaagca attctcctgc ctcagcctcc tgagtagctg
     2401 gcactgtagg catgtaccac catgcccagc taatttttat atttttagta gagatggggt
     2461 tttgccatat tggccaggct ggtctcaaac tcctgaactc aagtgataac acccaccttg
     2521 gcctcccaaa gtgctgggat tacaggtgtg agccaccaca ctgggccaat gcttaatatt
     2581 ttaatgtatc tcaacaataa aaccaagaag aaacaaagcc ttttgacttg ttagaatgta
     2641 ttaagtagta ttttaaagaa actttatagt tgtgacattg aaagactgtt ggggtggggg
     2701 gaggaaaatt tttactttcc atcttaatgt aaccttatgc tattctgtat ttttactgta
     2761 tattgctttt acaataaata taaaatgaaa tgtttatgtt gacatttcag tgtgaa
//
