LOCUS       NM_004278               1289 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            L (PIGL), transcript variant 1, mRNA.
ACCESSION   NM_004278
VERSION     NM_004278.4
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 1289)
  AUTHORS   Yu,H., Shi,T., Yao,L., Xu,D., Ding,Y., Xia,Q., Liu,W. and Wang,X.
  TITLE     Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and improves PD-1
            blockade therapy by dampening tumor immune evasion
  JOURNAL   Cell Mol Immunol 20 (8), 867-880 (2023)
   PUBMED   37280393
  REMARK    GeneRIF: Elevated nuclear PIGL disrupts the cMyc/BRD4 axis and
            improves PD-1 blockade therapy by dampening tumor immune evasion.
REFERENCE   2  (bases 1 to 1289)
  AUTHORS   Pagnamenta,A.T., Murakami,Y., Taylor,J.M., Anzilotti,C.,
            Howard,M.F., Miller,V., Johnson,D.S., Tadros,S., Mansour,S.,
            Temple,I.K., Firth,R., Rosser,E., Harrison,R.E., Kerr,B.,
            Popitsch,N., Kinoshita,T., Taylor,J.C. and Kini,U.
  CONSRTM   DDD Study
  TITLE     Analysis of exome data for 4293 trios suggests GPI-anchor
            biogenesis defects are a rare cause of developmental disorders
  JOURNAL   Eur J Hum Genet 25 (6), 669-679 (2017)
   PUBMED   28327575
  REMARK    GeneRIF: c.336-2A>G variant in PIGL associated with developmental
            disorder resulted in exon skipping.
REFERENCE   3  (bases 1 to 1289)
  AUTHORS   Knight Johnson,A., Schaefer,G.B., Lee,J., Hu,Y. and Del Gaudio,D.
  TITLE     Alu-mediated deletion of PIGL in a Patient with CHIME syndrome
  JOURNAL   Am J Med Genet A 173 (5), 1378-1382 (2017)
   PUBMED   28371479
  REMARK    GeneRIF: these findings indicate that patients with a clinical
            diagnosis of CHIME syndrome and a single identifiable mutation in
            PIGL warrant further investigation for copynumber changes involving
REFERENCE   4  (bases 1 to 1289)
  AUTHORS   Fujiwara,I., Murakami,Y., Niihori,T., Kanno,J., Hakoda,A.,
            Sakamoto,O., Okamoto,N., Funayama,R., Nagashima,T., Nakayama,K.,
            Kinoshita,T., Kure,S., Matsubara,Y. and Aoki,Y.
  TITLE     Mutations in PIGL in a patient with Mabry syndrome
  JOURNAL   Am J Med Genet A 167A (4), 777-785 (2015)
   PUBMED   25706356
  REMARK    GeneRIF: Mutations in PIGL in a patient with Mabry syndrome.
REFERENCE   5  (bases 1 to 1289)
  AUTHORS   Ahmeti,K.B., Ajroud-Driss,S., Al-Chalabi,A., Andersen,P.M.,
            Armstrong,J., Birve,A., Blauw,H.M., Brown,R.H., Bruijn,L., Chen,W.,
            Chio,A., Comeau,M.C., Cronin,S., Diekstra,F.P., Soraya Gkazi,A.,
            Glass,J.D., Grab,J.D., Groen,E.J., Haines,J.L., Hardiman,O.,
            Heller,S., Huang,J., Hung,W.Y., Jaworski,J.M., Jones,A., Khan,H.,
            Landers,J.E., Langefeld,C.D., Leigh,P.N., Marion,M.C.,
            McLaughlin,R.L., Meininger,V., Melki,J., Miller,J.W., Mora,G.,
            Pericak-Vance,M.A., Rampersaud,E., Robberecht,W., Russell,L.P.,
            Salachas,F., Saris,C.G., Shatunov,A., Shaw,C.E., Siddique,N.,
            Siddique,T., Smith,B.N., Sufit,R., Topp,S., Traynor,B.J., Vance,C.,
            van Damme,P., van den Berg,L.H., van Es,M.A., van Vught,P.W.,
            Veldink,J.H., Yang,Y. and Zheng,J.G.
  CONSRTM   ITALSGEN consortium; ALSGEN Consortium
  TITLE     Age of onset of amyotrophic lateral sclerosis is modulated by a
            locus on 1p34.1
  JOURNAL   Neurobiol Aging 34 (1), 357 (2013)
   PUBMED   22959728
REFERENCE   6  (bases 1 to 1289)
  AUTHORS   Ng,B.G., Hackmann,K., Jones,M.A., Eroshkin,A.M., He,P., Wiliams,R.,
            Bhide,S., Cantagrel,V., Gleeson,J.G., Paller,A.S., Schnur,R.E.,
            Tinschert,S., Zunich,J., Hegde,M.R. and Freeze,H.H.
  TITLE     Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME
            syndrome
  JOURNAL   Am J Hum Genet 90 (4), 685-688 (2012)
   PUBMED   22444671
  REMARK    GeneRIF: Whole-exome sequencing on five previously reported CHIME
            cases identified PIGL (N-acetylglucosaminyl-phosphatidylinositol
            de-N-acetylase) as required for glycosylphosphatidylinositol anchor
            formation.
REFERENCE   7  (bases 1 to 1289)
  AUTHORS   Pottekat,A. and Menon,A.K.
  TITLE     Subcellular localization and targeting of N-acetylglucosaminyl
            phosphatidylinositol de-N-acetylase, the second enzyme in the
            glycosylphosphatidylinositol biosynthetic pathway
  JOURNAL   J Biol Chem 279 (16), 15743-15751 (2004)
   PUBMED   14742432
REFERENCE   8  (bases 1 to 1289)
  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
REFERENCE   9  (bases 1 to 1289)
  AUTHORS   Watanabe,R., Ohishi,K., Maeda,Y., Nakamura,N. and Kinoshita,T.
  TITLE     Mammalian PIG-L and its yeast homologue Gpi12p are
            N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential
            in glycosylphosphatidylinositol biosynthesis
  JOURNAL   Biochem J 339 (Pt 1) (Pt 1), 185-192 (1999)
   PUBMED   10085243
REFERENCE   10 (bases 1 to 1289)
  AUTHORS   Nakamura,N., Inoue,N., Watanabe,R., Takahashi,M., Takeda,J.,
            Stevens,V.L. and Kinoshita,T.
  TITLE     Expression cloning of PIG-L, a candidate
            N-acetylglucosaminyl-phosphatidylinositol deacetylase
  JOURNAL   J Biol Chem 272 (25), 15834-15840 (1997)
   PUBMED   9188481
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX404762.1, AB017165.1,
            BC068197.1, AI888858.1 and AC005971.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004278.3.
            
            Summary: This gene encodes an enzyme that catalyzes the second step
            of glycosylphosphatidylinositol (GPI) biosynthesis, which is the
            de-N-acetylation of N-acetylglucosaminylphosphatidylinositol
            (GlcNAc-PI). Study of a similar rat enzyme suggests that this
            protein localizes to the endoplasmic reticulum. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292932.1, SRR1660809.72037.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000225609.10/ ENSP00000225609.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 5' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BX404762.1         926-937             c
            13-795              AB017165.1         1-783
            796-1131            BC068197.1         790-1125
            1132-1137           AI888858.1         12-17               c
            1138-1289           AC005971.5         33305-33456         c
FEATURES             Location/Qualifiers
     source          1..1289
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p11.2"
     gene            1..1289
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class L"
                     /db_xref="GeneID:9487"
                     /db_xref="HGNC:HGNC:8966"
                     /db_xref="MIM:605947"
     exon            1..252
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..776
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /EC_number="3.5.1.89"
                     /note="isoform 1 is encoded by transcript variant 1;
                     N-acetylglucosaminylphosphatidylinositol deacetylase;
                     phosphatidylinositol glycan, class L;
                     N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase;
                     PIG-L; phosphatidylinositol-glycan biosynthesis class L
                     protein"
                     /codon_start=1
                     /product="N-acetylglucosaminyl-phosphatidylinositol
                     de-N-acetylase isoform 1"
                     /protein_id="NP_004269.1"
                     /db_xref="CCDS:CCDS11176.1"
                     /db_xref="GeneID:9487"
                     /db_xref="HGNC:HGNC:8966"
                     /db_xref="MIM:605947"
                     /translation="MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTL
                     LVIAHPDDEAMFFAPTVLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIP
                     LSSVMIIDNRDFPDDPGMQWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIAL
                     YAAVRALHSEGKLPKGCSVLTLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQ
                     AKKAMSCHRSQLLWFRRLYIIFSRYMRINSLSFL"
     exon            253..352
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     exon            353..443
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     exon            444..511
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     exon            512..543
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     exon            544..677
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     exon            678..1289
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1112..1117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /note="hexamer: CATAAA"
     polyA_site      1132
                     /gene="PIGL"
                     /gene_synonym="CHIME"
                     /note="major polyA site"
     polyA_site      1199
                     /gene="PIGL"
                     /gene_synonym="CHIME"
ORIGIN      
        1 agtgctgctt acccatcatg gaagcaatgt ggctcctgtg tgtggcgttg gcggtcttgg
       61 catggggctt cctctgggtt tgggactcct cagaacgaat gaagagtcgg gagcagggag
      121 gacggctggg agccgaaagc cggaccctgc tggtcatagc gcaccctgac gatgaagcca
      181 tgttttttgc tcccacagtg ctaggcttgg cccgcctaag gcactgggtg tacctgcttt
      241 gcttctctgc aggaaattac tacaatcaag gagagactcg taagaaagaa cttttgcaga
      301 gctgtgatgt tttggggatt ccactctcca gtgtaatgat tattgacaac agggatttcc
      361 cagatgaccc aggcatgcag tgggacacag agcacgtggc cagagtcctc cttcagcaca
      421 tagaagtgaa tggcatcaat ctggtggtga ctttcgatgc agggggagta agtggccaca
      481 gcaatcacat tgctctgtat gcagctgtga gggccctgca ctcagaaggg aagttaccta
      541 aagggtgctc tgtgctcacg cttcagtctg tgaatgtgct gcgcaagtac atctcccttc
      601 tggatctgcc cttgtctctg cttcatacgc aggatgtcct cttcgtgctc aacagcaaag
      661 aagtggcaca ggccaagaaa gccatgtcct gccaccgcag ccagctcctc tggttccgcc
      721 gcctctacat tatcttctcc cggtacatga gaatcaactc actgagcttc ctctgaagcc
      781 ttgaagggtt ttcagatcca aggaacaaag gggaaaatag acaaaggagt gcagaggacc
      841 tggcctggca ctggcttatt tacctgagct caaggagatc cccgctggag cagcctctgc
      901 aaaagggagc ccatgtaggc caggggctgt ccaaactcca gcttcttccc ctgggaaaaa
      961 acccaaagaa ccaaaaacaa accaccccaa ggataataat agctacactg ctagcttctc
     1021 aagttcttgt gaaaaacaat ttacataatg acacagtaga tgtggaacac ctagcccagt
     1081 gcctgggcag gtccctatta tcataaatga acataaaagt gctctaaaaa cactccacag
     1141 atgtgacttt tacattgttt ccaaagcagg ttcaccaaaa acacatacac aaaatgcaac
     1201 agtgtgtgtt gaattggttc aatcataatt cctttgattt ttcttgtatc agaatgtggg
     1261 tctaggaaaa acttgctcta tttaacagg
//
