LOCUS       NM_001127178            3909 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            G (EMM blood group) (PIGG), transcript variant 1, mRNA.
ACCESSION   NM_001127178
VERSION     NM_001127178.3
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 3909)
  AUTHORS   Tremblay-Laganiere,C., Maroofian,R., Nguyen,T.T.M., Karimiani,E.G.,
            Kirmani,S., Akbar,F., Ibrahim,S., Afroze,B., Doosti,M.,
            Ashrafzadeh,F., Babaei,M., Efthymiou,S., Christoforou,M.,
            Sultan,T., Ladda,R.L., McLaughlin,H.M., Truty,R., Mahida,S.,
            Cohen,J.S., Baranano,K., Ismail,F.Y., Patel,M.S., Lehman,A.,
            Edmondson,A.C., Nagy,A., Walker,M.A., Mercimek-Andrews,S., Maki,Y.,
            Sachdev,R., Macintosh,R., Palmer,E.E., Mancini,G.M.S.,
            Barakat,T.S., Steinfeld,R., Rusch,C.T., Stettner,G.M., Wagner,M.,
            Wortmann,S.B., Kini,U., Brady,A.F., Stals,K.L., Ismayilova,N.,
            Ellard,S., Bernardo,D., Nugent,K., McLean,S.D., Antonarakis,S.E.,
            Houlden,H., Kinoshita,T., Campeau,P.M. and Murakami,Y.
  TITLE     PIGG variant pathogenicity assessment reveals characteristic
            features within 19 families
  JOURNAL   Genet Med 23 (10), 1873-1881 (2021)
   PUBMED   34113002
  REMARK    GeneRIF: PIGG variant pathogenicity assessment reveals
            characteristic features within 19 families.
REFERENCE   2  (bases 1 to 3909)
  AUTHORS   Parsamanesh,N., Safarpour,H., Etesam,S., Shadmehri,A.A. and
            Miri-Moghaddam,E.
  TITLE     Identification and In Silico Characterization of a Novel Point
            Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis
            Class G Gene in an Iranian Family with Intellectual Disability
  JOURNAL   J Mol Neurosci 69 (4), 538-545 (2019)
   PUBMED   31414351
  REMARK    GeneRIF: Arg658Gln mutation segregates with nonsyndromic
            intellectual disability in Iranian family.
REFERENCE   3  (bases 1 to 3909)
  AUTHORS   Zhao,J.J., Halvardson,J., Knaus,A., Georgii-Hemming,P., Baeck,P.,
            Krawitz,P.M., Thuresson,A.C. and Feuk,L.
  TITLE     Reduced cell surface levels of GPI-linked markers in a new case
            with PIGG loss of function
  JOURNAL   Hum Mutat 38 (10), 1394-1401 (2017)
   PUBMED   28581210
  REMARK    GeneRIF: Based on genetic and functional evidence, we confirm that
            pathogenic variants in PIGG cause an intellectual disability
            syndrome, and we find that loss of function of PIGG is associated
            with Glycosylphosphatidylinositol deficiency
REFERENCE   4  (bases 1 to 3909)
  AUTHORS   Makrythanasis,P., Kato,M., Zaki,M.S., Saitsu,H., Nakamura,K.,
            Santoni,F.A., Miyatake,S., Nakashima,M., Issa,M.Y., Guipponi,M.,
            Letourneau,A., Logan,C.V., Roberts,N., Parry,D.A., Johnson,C.A.,
            Matsumoto,N., Hamamy,H., Sheridan,E., Kinoshita,T.,
            Antonarakis,S.E. and Murakami,Y.
  TITLE     Pathogenic Variants in PIGG Cause Intellectual Disability with
            Seizures and Hypotonia
  JOURNAL   Am J Hum Genet 98 (4), 615-626 (2016)
   PUBMED   26996948
  REMARK    GeneRIF: loss-of-function variants in PIGG associated with
            intellectual disability and hypotonia
REFERENCE   5  (bases 1 to 3909)
  AUTHORS   Yoshida,T., Kato,K., Yokoi,K., Oguri,M., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Association of genetic variants with hemorrhagic stroke in Japanese
            individuals
  JOURNAL   Int J Mol Med 25 (4), 649-656 (2010)
   PUBMED   20198315
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3909)
  AUTHORS   Oguri,M., Kato,K., Yokoi,K., Yoshida,T., Watanabe,S., Metoki,N.,
            Yoshida,H., Satoh,K., Aoyagi,Y., Nozawa,Y. and Yamada,Y.
  TITLE     Assessment of a polymorphism of SDK1 with hypertension in Japanese
            Individuals
  JOURNAL   Am J Hypertens 23 (1), 70-77 (2010)
   PUBMED   19851296
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3909)
  AUTHORS   Shishioh,N., Hong,Y., Ohishi,K., Ashida,H., Maeda,Y. and
            Kinoshita,T.
  TITLE     GPI7 is the second partner of PIG-F and involved in modification of
            glycosylphosphatidylinositol
  JOURNAL   J Biol Chem 280 (10), 9728-9734 (2005)
   PUBMED   15632136
REFERENCE   8  (bases 1 to 3909)
  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 3909)
  AUTHORS   Battaglia,A., Carey,J.C. and South,S.T.
  TITLE     Wolf-Hirschhorn Syndrome - 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   20301362
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA548833.1, AB162713.1,
            AL162084.1 and AC116565.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001127178.2.
            
            Summary: This gene encodes an enzyme involved in
            glycosylphosphatidylinositol-anchor biosynthesis. The encoded
            protein, which is localized to the endoplasmic reticulum, is
            involved in transferring ethanoloamine phosphate to mannose 2 of
            glycosylphosphatidylinositol species H7 to form species H8. Allelic
            variants of this gene have been associated with intellectual
            disability, hypotonia, and early-onset seizures. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Sep 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.43729.1,
                                           SRR1803617.104413.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453061.7/ ENSP00000415203.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-124               DA548833.1         11-134
            125-3238            AB162713.1         105-3218
            3239-3630           AL162084.1         728-1119
            3631-3909           AC116565.4         26707-26985
FEATURES             Location/Qualifiers
     source          1..3909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..3909
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class G (EMM blood group)"
                     /db_xref="GeneID:54872"
                     /db_xref="HGNC:HGNC:25985"
                     /db_xref="MIM:616918"
     exon            1..280
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..3078
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /note="isoform 1 is encoded by transcript variant 1; GPI
                     ethanolamine phosphate transferase 2;
                     phosphatidylinositol-glycan biosynthesis class G protein;
                     EMM blood group antigen; LAS21 (GPI7) homolog"
                     /codon_start=1
                     /product="GPI ethanolamine phosphate transferase 2 isoform
                     1"
                     /protein_id="NP_001120650.1"
                     /db_xref="CCDS:CCDS46992.1"
                     /db_xref="GeneID:54872"
                     /db_xref="HGNC:HGNC:25985"
                     /db_xref="MIM:616918"
                     /translation="MRLGSGTFATCCVAIEVLGIAVFLRGFFPAPVRSSARAEHGAEP
                     PAPEPSAGASSNWTTLPPPLFSKVVIVLIDALRDDFVFGSKGVKFMPYTTYLVEKGAS
                     HSFVAEAKPPTVTMPRIKALMTGSLPGFVDVIRNLNSPALLEDSVIRQAKAAGKRIVF
                     YGDETWVKLFPKHFVEYDGTTSFFVSDYTEVDNNVTRHLDKVLKRGDWDILILHYLGL
                     DHIGHISGPNSPLIGQKLSEMDSVLMKIHTSLQSKERETPLPNLLVLCGDHGMSETGS
                     HGASSTEEVNTPLILISSAFERKPGDIRHPKHVQQTDVAATLAIALGLPIPKDSVGSL
                     LFPVVEGRPMREQLRFLHLNTVQLSKLLQENVPSYEKDPGFEQFKMSERLHGNWIRLY
                     LEEKHSEVLFNLGSKVLRQYLDALKTLSLSLSAQVAQYDIYSMMVGTVVVLEVLTLLL
                     LSVPQALRRKAELEVPLSSPGFSLLFYLVILVLSAVHVIVCTSAESSCYFCGLSWLAA
                     GGVMVLASALLCVIVSVLTNVLVGGNTPRKNPMHPSSRWSELDLLILLGTAGHVLSLG
                     ASSFVEEEHQTWYFLVNTLCLALSQETYRNYFLGDDGEPPCGLCVEQGHDGATAAWQD
                     GPGCDVLERDKGHGSPSTSEVLRGREKWMVLASPWLILACCRLLRSLNQTGVQWAHRP
                     DLGHWLTSSDHKAELSVLAALSLLVVFVLVQRGCSPVSKAALALGLLGVYCYRAAIGS
                     VRFPWRPDSKDISKGIIEARFVYVFVLGILFTGTKDLLKSQVIAADFKLKTVGLWEIY
                     SGLVLLAALLFRPHNLPVLAFSLLIQTLMTKFIWKPLRHDAAEITVMHYWFGQAFFYF
                     QGNSNNIATVDISAGFVGLDTYVEIPAVLLTAFGTYAGPVLWASHLVHFLSSETRSGS
                     ALSHACFCYALICSIPVFTYIVLVTSLRYHLFIWSVFSPKLLYEGMHLLITAAVCVFF
                     TAMDQTRLTQS"
     exon            281..486
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            487..696
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            697..885
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1027
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1240
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1458
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1740
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..2195
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            2196..2387
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            2388..2697
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            2698..2861
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     exon            2862..3909
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3217..3222
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /note="hexamer: AATAAA"
     polyA_site      3238
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /note="major polyA site"
     regulatory      3885..3890
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
                     /note="hexamer: AATAAA"
     polyA_site      3909
                     /gene="PIGG"
                     /gene_synonym="EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405;
                     RLGS1930"
ORIGIN      
        1 actgtcgctg cgacgataag gcctggcgtt attgcttaga ggcggctacc tggagccgga
       61 agcgcggctg cagcagggcg aggctccagg tggggtcggt tccgcatcca gcctagcgtg
      121 tccacgatgc ggctgggctc cgggactttc gctacctgtt gcgtagcgat cgaggtgcta
      181 gggatcgcgg tcttccttcg gggattcttc ccggctcccg ttcgttcctc tgccagagcg
      241 gaacacggag cggagccccc agcgcccgaa ccctcggctg gagccagttc taactggacc
      301 acgctgccac cacctctctt cagtaaagtt gttattgttc tgatagatgc cttgagagat
      361 gattttgtgt ttgggtcaaa gggtgtgaaa tttatgccct acacaactta ccttgtggaa
      421 aaaggagcat ctcacagttt tgtggctgaa gcaaagccac ctacagttac tatgcctcga
      481 atcaaggcat tgatgacggg gagccttcct ggctttgtcg acgtcatcag gaacctcaat
      541 tctcctgcac tgctggaaga cagtgtgata agacaagcaa aagcagctgg aaaaagaata
      601 gtcttttatg gagatgaaac ctgggttaaa ttattcccaa agcattttgt ggaatatgat
      661 ggaacaacct catttttcgt gtcagattac acagaggtgg ataataatgt cacgaggcat
      721 ttggataaag tattaaaaag aggagattgg gacatattaa tcctccacta cctggggctg
      781 gaccacattg gccacatttc agggcccaac agccccctga ttgggcagaa gctgagcgag
      841 atggacagcg tgctgatgaa gatccacacc tcactgcagt cgaaggagag agagacgcct
      901 ttacccaatt tgctggttct ttgtggtgac catggcatgt ctgaaacagg aagtcacggg
      961 gcctcctcca ccgaggaggt gaatacacct ctgattttaa tcagttctgc gtttgaaagg
     1021 aaacccggtg atatccgaca tccaaagcac gtccaacaga cggatgtggc tgcgacactg
     1081 gcgatagcac ttggcttacc gattccaaaa gacagtgtag ggagcctcct attcccagtt
     1141 gtggaaggaa gaccaatgag agagcagttg agatttttac atttgaatac agtgcagctt
     1201 agtaaactgt tgcaagagaa tgtgccgtca tatgaaaaag atcctgggtt tgagcagttt
     1261 aaaatgtcag aaagattgca tgggaactgg atcagactgt acttggagga aaagcattca
     1321 gaagtcctat tcaacctggg ctccaaggtt ctcaggcagt acctggatgc tctgaagacg
     1381 ctgagcttgt ccctgagtgc acaagtggcc cagtacgaca tctattcgat gatggtgggg
     1441 actgtcgtgg ttttggaggt tctcaccctg ctcctgctca gcgtcccaca ggcactgcgc
     1501 agaaaggctg agctggaagt cccactgtca tctcctgggt tttctctgct cttttatttg
     1561 gtgatcctgg ttctttcggc cgttcacgtc attgtgtgca cctcagctga aagttcgtgc
     1621 tacttctgtg gcctctcgtg gctggcggca ggtggggtga tggtgctggc ctcggcgctg
     1681 ctgtgtgtga ttgtgtctgt tctgaccaac gtgctcgtgg gtggaaacac cccaaggaag
     1741 aaccccatgc atcccagctc aaggtggtca gagctagacc ttcttattct gttggggacg
     1801 gcgggccacg tcttgagcct gggcgccagc agcttcgtgg aggaggagca ccagacctgg
     1861 tacttccttg tgaacaccct gtgtctagct ctgagccaag aaacctacag aaactacttt
     1921 ctgggagatg acggtgagcc tccgtgtggc ctctgtgtgg aacaagggca tgacggggcc
     1981 acagcagcgt ggcaggacgg gcctggctgt gatgtcctgg agcgagacaa aggccacgga
     2041 agcccctcta cctccgaagt gctcagaggc cgcgagaagt ggatggtgct ggccagtccg
     2101 tggctaatac tggcctgctg ccggctgctg cgctccctaa accagacagg tgtgcagtgg
     2161 gctcaccggc ctgacctcgg ccactggctc accagctctg accacaaagc cgagctctct
     2221 gtcctggctg ccctctccct cctcgtagtt tttgtgctgg tgcagagggg gtgctcccct
     2281 gtgtccaagg ctgccctggc gctggggctg ctgggcgtct actgctaccg ggcggccatc
     2341 gggagtgtcc ggttcccgtg gcggccggac agcaaggaca tttccaaggg tattattgaa
     2401 gctcgttttg tttatgtctt tgtccttggc attctgttca cgggcaccaa agacttactt
     2461 aaatctcaag tcattgctgc agacttcaaa ctcaagactg taggtttatg ggagatatat
     2521 agtggattag ttcttctggc agccttgctc tttagaccac ataatcttcc ggtcttagca
     2581 tttagcctct tgattcagac tctaatgact aaattcatct ggaagcccct gagacacgat
     2641 gcagctgaga ttactgtgat gcattattgg tttggtcaag cattcttcta ttttcagggc
     2701 aactccaaca acattgccac cgtggacatc tccgcaggct tcgtgggctt agacacctac
     2761 gtggaaatcc cagccgtgct cctgacagcg tttgggacgt acgcagggcc tgtgctgtgg
     2821 gccagccact tagtgcactt cctgagctca gaaacacgca gtggttcagc actgagtcat
     2881 gcttgcttct gctacgcact gatttgttct attccagttt tcacgtacat cgttttggtg
     2941 acatctctgc gttatcattt atttatatgg agtgtatttt ctccaaaact tctctacgag
     3001 ggaatgcacc tgctcattac agctgctgtc tgtgtattct tcacggcaat ggatcaaacc
     3061 agactcacac agtcttagac taagctgaac actggaaaaa taatacatgc ttaaagtctg
     3121 ctgttattct aaaatgaaag atatgaattc aacaaagttg atggataact ttctttgact
     3181 gctctacctg aatttagact aagcagtaaa tagtttaata aaagatcact ttaatataca
     3241 gtttgtatca tattttcccc cattgacaat cactctagaa gcttctgaac ttttaatttc
     3301 ctctgaataa gctatggtgt gacccaaata tgtgtgttta aatcaatgaa tgaaaaggtt
     3361 ctggactttg ttagagtcca ggagctctgt gggaggaggc acccagatta ccttagggag
     3421 cacagagctc ttagaatcct acaaaccact gagggcccca aggcgctttg gtttatgagg
     3481 gttacatgta tcagtgttta tggcatttga gatgaaaact aagataaaaa agtattcatt
     3541 tataaggaat ctattgcata ttaatgaaac acttgaagga aaagtaacta tattttccaa
     3601 aacaaaaaaa ttcagtgaga cccagcactt tgggaggcca gagtgggggt atcacttgag
     3661 cccaggtgtt tgagatcagc ctgggaaaca tagtgagacc ctcatctctc caaaaacttc
     3721 aaaaaattag ctgggcgtga tggcacacac ctgtggtccc agctactcag gtggctgagg
     3781 aaagagtatt gtttcagccg agttcaaggc tgcagtgagc catgattgta ccactgtact
     3841 ccagccagga caacagagtg agactcttgt ctttaaaatg aaaaaataaa tgtttaatga
     3901 gaaaagtga
//
