LOCUS       NM_002641               3590 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            A (PIGA), transcript variant 1, mRNA.
ACCESSION   NM_002641
VERSION     NM_002641.4
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 3590)
  AUTHORS   Meuser,E., Chang,K., Walters,A., Hurley,J.J., West,H.D., Perry,I.,
            Mort,M., Reyes-Uribe,L., Truscott,R., Jones,N., Lawrence,R.,
            Jenkins,G., Giles,P., Dolwani,S., Al-Sarireh,B., Hawkes,N.,
            Short,E., Williams,G.T., Taggart,M.W., Luetchford,K., Lynch,P.M.,
            Terlouw,D., Nielsen,M., Walton,S.J., Latchford,A., Clark,S.K.,
            Sampson,J.R., Vilar,E. and Thomas,L.E.
  TITLE     PIGA Mutations and Glycosylphosphatidylinositol Anchor
            Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
  JOURNAL   Mol Cancer Res 22 (6), 515-523 (2024)
   PUBMED   38546397
  REMARK    GeneRIF: PIGA Mutations and Glycosylphosphatidylinositol Anchor
            Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.
REFERENCE   2  (bases 1 to 3590)
  AUTHORS   Crenshaw,M.M., Thompson,L., Pique,D.G., Micke,K., Saenz,M. and
            Baker,P.R. 2nd.
  TITLE     Congenital diaphragmatic hernia in siblings with PIGA-related
            congenital disorder of glycosylation
  JOURNAL   Am J Med Genet A 191 (12), 2860-2867 (2023)
   PUBMED   37589195
  REMARK    GeneRIF: Congenital diaphragmatic hernia in siblings with
            PIGA-related congenital disorder of glycosylation.
REFERENCE   3  (bases 1 to 3590)
  AUTHORS   Xi,J., Cao,Y., Wang,Y., You,X., Liu,W., Wang,T., Yin,J., Ma,J.,
            Wang,Z., Wu,N., Zhang,X., Duan,H. and Luan,Y.
  TITLE     PIG-A gene mutation as a mutagenicity biomarker among coke oven
            workers
  JOURNAL   Food Chem Toxicol 178, 113872 (2023)
   PUBMED   37271276
  REMARK    GeneRIF: PIG-A gene mutation as a mutagenicity biomarker among coke
            oven workers.
REFERENCE   4  (bases 1 to 3590)
  AUTHORS   Iida,Y., Takeda,J., Miyata,T., Inoue,N., Nishimura,J., Kitani,T.,
            Maeda,K. and Kinoshita,T.
  TITLE     Characterization of genomic PIG-A gene: a gene for
            glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal
            nocturnal hemoglobinuria
  JOURNAL   Blood 83 (11), 3126-3131 (1994)
   PUBMED   8193350
REFERENCE   5  (bases 1 to 3590)
  AUTHORS   Ware,R.E., Rosse,W.F. and Howard,T.A.
  TITLE     Mutations within the Piga gene in patients with paroxysmal
            nocturnal hemoglobinuria
  JOURNAL   Blood 83 (9), 2418-2422 (1994)
   PUBMED   8167330
REFERENCE   6  (bases 1 to 3590)
  AUTHORS   Bessler,M., Hillmen,P., Longo,L., Luzzatto,L. and Mason,P.J.
  TITLE     Genomic organization of the X-linked gene (PIG-A) that is mutated
            in paroxysmal nocturnal haemoglobinuria and of a related autosomal
            pseudogene mapped to 12q21
  JOURNAL   Hum Mol Genet 3 (5), 751-757 (1994)
   PUBMED   8081362
REFERENCE   7  (bases 1 to 3590)
  AUTHORS   Yu,J., Nagarajan,S., Ueda,E., Knez,J.J., Petersen,R.B. and
            Medof,M.E.
  TITLE     Characterization of alternatively spliced PIG-A transcripts in
            normal and paroxysmal nocturnal hemoglobinuria cells
  JOURNAL   Braz J Med Biol Res 27 (2), 195-201 (1994)
   PUBMED   8081230
REFERENCE   8  (bases 1 to 3590)
  AUTHORS   Bessler,M., Mason,P.J., Hillmen,P., Miyata,T., Yamada,N.,
            Takeda,J., Luzzatto,L. and Kinoshita,T.
  TITLE     Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic
            mutations in the PIG-A gene
  JOURNAL   EMBO J 13 (1), 110-117 (1994)
   PUBMED   8306954
REFERENCE   9  (bases 1 to 3590)
  AUTHORS   Takeda,J., Miyata,T., Kawagoe,K., Iida,Y., Endo,Y., Fujita,T.,
            Takahashi,M., Kitani,T. and Kinoshita,T.
  TITLE     Deficiency of the GPI anchor caused by a somatic mutation of the
            PIG-A gene in paroxysmal nocturnal hemoglobinuria
  JOURNAL   Cell 73 (4), 703-711 (1993)
   PUBMED   8500164
REFERENCE   10 (bases 1 to 3590)
  AUTHORS   Miyata,T., Takeda,J., Iida,Y., Yamada,N., Inoue,N., Takahashi,M.,
            Maeda,K., Kitani,T. and Kinoshita,T.
  TITLE     The cloning of PIG-A, a component in the early step of GPI-anchor
            biosynthesis
  JOURNAL   Science 259 (5099), 1318-1320 (1993)
   PUBMED   7680492
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D11466.1 and BQ026877.1.
            
            On Feb 27, 2020 this sequence version replaced NM_002641.3.
            
            Summary: This gene encodes a protein required for synthesis of
            N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first
            intermediate in the biosynthetic pathway of GPI anchor. The GPI
            anchor is a glycolipid found on many blood cells and which serves
            to anchor proteins to the cell surface. Paroxysmal nocturnal
            hemoglobinuria, an acquired hematologic disorder, has been shown to
            result from mutations in this gene. Alternate splice variants have
            been characterized. A related pseudogene is located on chromosome
            12. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            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 :: D11466.1, BC038236.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333590.6/ ENSP00000369820.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3308              D11466.1           1-3308
            3309-3318           BQ026877.1         297-306             c
            3319-3590           BQ026877.1         24-295              c
FEATURES             Location/Qualifiers
     source          1..3590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3590
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class A"
                     /db_xref="GeneID:5277"
                     /db_xref="HGNC:HGNC:8957"
                     /db_xref="MIM:311770"
     exon            1..23
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /inference="alignment:Splign:2.1.0"
     exon            24..800
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1540
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /EC_number="2.4.1.198"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GLCNAC-PI synthesis protein; phosphatidylinositol-glycan
                     biosynthesis, class A protein; phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit A; class A
                     GlcNAc-inositol phospholipid assembly protein; GPI anchor
                     biosynthesis"
                     /codon_start=1
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit A isoform 1"
                     /protein_id="NP_002632.1"
                     /db_xref="CCDS:CCDS14165.1"
                     /db_xref="GeneID:5277"
                     /db_xref="HGNC:HGNC:8957"
                     /db_xref="MIM:311770"
                     /translation="MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYP
                     NMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQST
                     ATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFA
                     DVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPD
                     PFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRE
                     RYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVG
                     GIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAE
                     RTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSI
                     IDVAIDATGPRGAWTNNYSHSKRGGENNEISETR"
     exon            801..933
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1066
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1273
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..3590
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3563..3568
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /note="hexamer: AATAAA"
     polyA_site      3590
                     /gene="PIGA"
                     /gene_synonym="GPI3; MCAHS2; NEDEPH; PIG-A; PNH1"
                     /note="major polyA site"
ORIGIN      
        1 actggcggcc atggaactca ccggtaatag aggacacatc tcttaactgg gttgctctaa
       61 gaactgatgt ctaaaccgtc tcagcatggc ctgtagagga ggagctggga atggccaccg
      121 tgcctcagct acactctctc gggttagccc tggaagtctt tacacatgta gaacccgtac
      181 ccataatata tgcatggtat ctgacttttt ctacccaaat atgggaggcg tggaaagcca
      241 catttaccag ctctctcagt gcctgattga aagagggcat aaggttataa ttgtcaccca
      301 tgcttatgga aatcgaaaag gcatccgtta cctcaccagt ggcctcaaag tctattactt
      361 gcctctgaaa gtcatgtaca accagtctac agccacgacc ctctttcaca gtctgccatt
      421 gctcaggtac atatttgttc gggagagagt cacgataatc cattcacata gttctttttc
      481 tgctatggcc catgatgctc tcttccacgc caagacaatg gggcttcaga cagtcttcac
      541 ggaccattcc ctttttggat ttgctgatgt cagctcggtg cttacaaaca agcttctaac
      601 cgtgtctctt tgtgatacaa accacatcat ttgtgtgtct tatactagta aggaaaatac
      661 tgtactaaga gcagcactga atcctgaaat agtgtccgtc attcctaatg ctgtagatcc
      721 tactgacttc actccagacc catttagaag gcatgatagt ataactattg ttgttgtcag
      781 cagacttgtt tacagaaaag ggatcgattt gcttagtggt ataatacctg aactctgtca
      841 gaaatatcca gatttaaatt tcataattgg aggagaggga ccaaagagaa tcattttgga
      901 agaagttcgg gaaagatacc agctgcatga cagggtgcgt cttttgggag ctttagaaca
      961 caaggatgtt agaaatgtct tagttcaagg acatattttt ctgaatacct cccttactga
     1021 agcattctgc atggcgatcg tggaagcagc cagttgtggt ttacaggttg taagtaccag
     1081 agttggtgga attcctgagg tgcttccaga aaaccttatt attttatgtg agccttcagt
     1141 aaaatctttg tgtgaaggat tggaaaaggc tattttccaa ctgaagtcag ggacattgcc
     1201 agctccagaa aacatccata acatagtaaa gactttctac acctggagga atgttgcaga
     1261 aagaactgaa aaggtatatg accgggtatc agtggaagct gtgttgccaa tggacaaacg
     1321 actggacaga cttatttctc actgcggccc agtaacaggc tacatctttg ctttgttggc
     1381 agttttcaac ttcctcttcc tcattttctt gagatggatg actccagatt ctatcattga
     1441 tgttgcaata gatgccactg ggccacgggg tgcctggact aataactatt ctcacagtaa
     1501 aagagggggt gagaataatg agatatctga aaccaggtag aaggaagcct agattgtaag
     1561 attttaaaca tttgtaatag ttctataaag actatggaaa ataaccttgc ttttgggggg
     1621 tttttgtttt tttagagtta atttagtaag ttatgctacc tctatatcat tcaatatttt
     1681 ctgttgagga aagataaaaa tgtatgcaat tcctgagtgt agaaacttct tgcacttatt
     1741 taaaatttag gagagaacat ttaagccact caggtatgca atttttcaga ctactgaaat
     1801 ccctgtagca gagatgtttt aacattatat tttgagagct ttgggtgctg aagggccaaa
     1861 cgttttctgg gcattttttg gccagttttt aatgtaacac cattagacac tcaccagatg
     1921 tttacaagtt ttctttaggg gaactacaac aattatatga actgttttat atcatgttca
     1981 tatacattta ttaggaatct aaatcatgtc tttgaacatt tattaggttc actcagtagg
     2041 tgttacatgt aattaacagg ttccttgagt aagatagtcc atcagttacc agcacatttt
     2101 gaacccctgc tctgtgtaga atgttgaact agatgcttcc cgccattaag gaccaggggt
     2161 gcattcactc tttgtttacc attcaaatgg cttacttcat cataattgtg gttgatatga
     2221 gatcaatatc caacatgcca aaaatgctca tgccagttaa tgccaggaaa aaaatcaccg
     2281 acacactact agtactttgt tcctgttgta tgcattctcc taggtagagc ctccatcttc
     2341 agttgtgttt gtgaaggtat tttttgcttt ttaaatactg gggaccgata tcactgttga
     2401 tagtgcagag aaaccctcca catttttcag tgcataattg agttttctat aaatgccttc
     2461 gtgttttctg agcagaatgt acgaggtgtg ccatcccaaa accagctgct accctgtcct
     2521 tttaatgtaa gtcactcccc ttcactgtgg cctcgctgat gtctgataag tattgtcagt
     2581 gtgcaaaagg ctttacttca gaatggttta tttatagcaa actaagttga aaattttaga
     2641 aacagtcttt gtgggtggat gttattaact gtcattgttg ttgcccagag ccatgggttt
     2701 tttaacccca aattatccac atggtgtgta ttatgaattc tttgaactct taaggttttt
     2761 gtgagaaaag gactgtgaat tcaaaacaat aaggcacttg tgggtgcact acatagattc
     2821 tgacagtgtt gtgattctgt ataggatttt taaaaatgac aacattcaca aaatttatta
     2881 ctttttaaaa aataacatgc ctattaactg gttgcactga tataaaagaa atatatttgt
     2941 gttttgtttg tactaaaatg caaaagcaag agtgcaattt ttaaaatcta gaagttaggg
     3001 gttttgttgg agaaaaatgg actgatcttt aaactattca gtcttactgg gatttttatg
     3061 catagaaact cacatataaa catgaaataa acagtgccag tattcatagg aaagtgagaa
     3121 actgtaatat ttggccatta ttctattcaa caggttttag aggcatgcca ccattttttc
     3181 cttatatttt tgcttaattt ttttaaattg tcatttaatt cttaaactgt catttatttg
     3241 agatggaaat aagatctaaa gttagttgcc tttgcctgta aaacatgtga tttgcaaatt
     3301 attatttttc ttttttttaa caaatggaag taaatttgtt tcacgtaaat cttaattttc
     3361 aacctttctg gataccttaa ttgtaactgt cagtttgcac tggtcggtat atggaaacac
     3421 attgctctac cctgctactt agttgatttt aaagtgaatt tacagtgatg agaaatttgt
     3481 gaaaaatata ttgtatttct tttgatgttt caaaaggttg cctatgaaaa actgatttgt
     3541 taaaacatgc tacatgtcca aaaataaaga ccagaatgac attttgataa
//
