LOCUS       NM_004569               1394 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            H (PIGH), transcript variant 1, mRNA.
ACCESSION   NM_004569
VERSION     NM_004569.5
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 1394)
  AUTHORS   Wegner,J., Zillinger,T., Schlee-Guimaraes,T.M., Bartok,E. and
            Schlee,M.
  TITLE     An epigenetic GPI anchor defect impairs TLR4 signaling in the B
            cell transdifferentiation model for primary human monocytes BLaER1
  JOURNAL   Sci Rep 11 (1), 14983 (2021)
   PUBMED   34294787
  REMARK    GeneRIF: An epigenetic GPI anchor defect impairs TLR4 signaling in
            the B cell transdifferentiation model for primary human monocytes
            BLaER1.
            Erratum:[Sci Rep. 2021 Aug 30;11(1):17661. doi:
            10.1038/s41598-021-97277-5.. PMID: 34462520]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1394)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1394)
  AUTHORS   Tremblay-Laganiere,C., Kaiyrzhanov,R., Maroofian,R., Nguyen,T.T.M.,
            Salayev,K., Chilton,I.T., Chung,W.K., Madden,J.A., Phornphutkul,C.,
            Agrawal,P.B., Houlden,H. and Campeau,P.M.
  TITLE     PIGH deficiency can be associated with severe neurodevelopmental
            and skeletal manifestations
  JOURNAL   Clin Genet 99 (2), 313-317 (2021)
   PUBMED   33156547
  REMARK    GeneRIF: PIGH deficiency can be associated with severe
            neurodevelopmental and skeletal manifestations.
REFERENCE   4  (bases 1 to 1394)
  AUTHORS   Loeff,F.C., Rijs,K., van Egmond,E.H.M., Zoutman,W.H., Qiao,X.,
            Kroes,W.G.M., Veld,S.A.J., Griffioen,M., Vermeer,M.H., Neefjes,J.,
            Frederik Falkenburg,J.H., Halkes,C.J.M. and Jedema,I.
  TITLE     Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic
            downregulation of PIGH expression
  JOURNAL   Am J Hematol 94 (1), 93-102 (2019)
   PUBMED   30370942
  REMARK    GeneRIF: The GPI-anchor negative phenotype results from loss of
            mRNA expression of the PIGH gene, which is involved in the first
            step of GPI-anchor synthesis. Loss of PIGH mRNA expression within
            these B-ALL cells follows epigenetic silencing rather than gene
            mutation or deletion.
REFERENCE   5  (bases 1 to 1394)
  AUTHORS   Nguyen,T.T.M., Mahida,S., Smith-Hicks,C. and Campeau,P.M.
  TITLE     A PIGH mutation leading to GPI deficiency is associated with
            developmental delay and autism
  JOURNAL   Hum Mutat 39 (6), 827-829 (2018)
   PUBMED   29603516
  REMARK    GeneRIF: This suggests that PIGH mutations may cause a syndrome
            with developmental delay and autism, but without an epileptic
            encephalopathy, and should increase the awareness of the
            potentially deleterious nature of biallelic variants in this gene.
REFERENCE   6  (bases 1 to 1394)
  AUTHORS   Watanabe,R., Murakami,Y., Marmor,M.D., Inoue,N., Maeda,Y., Hino,J.,
            Kangawa,K., Julius,M. and Kinoshita,T.
  TITLE     Initial enzyme for glycosylphosphatidylinositol biosynthesis
            requires PIG-P and is regulated by DPM2
  JOURNAL   EMBO J 19 (16), 4402-4411 (2000)
   PUBMED   10944123
REFERENCE   7  (bases 1 to 1394)
  AUTHORS   Watanabe,R., Inoue,N., Westfall,B., Taron,C.H., Orlean,P.,
            Takeda,J. and Kinoshita,T.
  TITLE     The first step of glycosylphosphatidylinositol biosynthesis is
            mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1
  JOURNAL   EMBO J 17 (4), 877-885 (1998)
   PUBMED   9463366
REFERENCE   8  (bases 1 to 1394)
  AUTHORS   Watanabe,R., Kinoshita,T., Masaki,R., Yamamoto,A., Takeda,J. and
            Inoue,N.
  TITLE     PIG-A and PIG-H, which participate in glycosylphosphatidylinositol
            anchor biosynthesis, form a protein complex in the endoplasmic
            reticulum
  JOURNAL   J Biol Chem 271 (43), 26868-26875 (1996)
   PUBMED   8900170
REFERENCE   9  (bases 1 to 1394)
  AUTHORS   Ware,R.E., Howard,T.A., Kamitani,T., Chang,H.-M., Yeh,E.T.H. and
            Seldin,M.F.
  TITLE     Chromosomal assignment of genes involved in
            glycosylphosphatidylinositol anchor biosynthesis: implications for
            the pathogenesis of paroxysmal nocturnal hemoglobinuria
  JOURNAL   Blood 83 (12), 3753-3757 (1994)
   PUBMED   8204896
REFERENCE   10 (bases 1 to 1394)
  AUTHORS   Kamitani,T., Chang,H.M., Rollins,C., Waneck,G.L. and Yeh,E.T.
  TITLE     Correction of the class H defect in glycosylphosphatidylinositol
            anchor biosynthesis in Ltk- cells by a human cDNA clone
  JOURNAL   J Biol Chem 268 (28), 20733-20736 (1993)
   PUBMED   8407896
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL132640.4, L19783.1 and
            AI633958.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004569.4.
            
            Summary: This gene encodes an endoplasmic reticulum associated
            protein that is involved in glycosylphosphatidylinositol
            (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on
            many blood cells and which serves to anchor proteins to the cell
            surface. The protein encoded by this gene is a subunit of the GPI
            N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to
            phosphatidylinositol (PI) on the cytoplasmic side of the
            endoplasmic reticulum. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1803611.5166.1,
                                           SRR1803613.53054.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216452.9/ ENSP00000216452.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AL132640.4         43040-43054
            16-1047             L19783.1           11-1042
            1048-1394           AI633958.1         14-360              c
FEATURES             Location/Qualifiers
     source          1..1394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.1"
     gene            1..1394
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class H"
                     /db_xref="GeneID:5283"
                     /db_xref="HGNC:HGNC:8964"
                     /db_xref="MIM:600154"
     exon            1..245
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..632
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /EC_number="2.4.1.198"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphatidylinositol N-acetylglucosaminyltransferase
                     subunit H; phosphatidylinositol-glycan biosynthesis, class
                     H protein"
                     /codon_start=1
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit H isoform 1"
                     /protein_id="NP_004560.1"
                     /db_xref="CCDS:CCDS9784.1"
                     /db_xref="GeneID:5283"
                     /db_xref="HGNC:HGNC:8964"
                     /db_xref="MIM:600154"
                     /translation="MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAV
                     TCTVWLAAYGLFTLCENSMILSAAIFITLLGLLGYLHFVKIDQETLLIIDSLGIQMTS
                     SYASGKESTTFIEMGKVKDIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSA
                     KPRLDCLIEVYRSCQEILAHQKATSTSP"
     exon            246..455
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /inference="alignment:Splign:2.1.0"
     exon            456..539
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /inference="alignment:Splign:2.1.0"
     exon            540..1394
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1148..1153
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /note="hexamer: AATAAA"
     polyA_site      1173
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /note="major polyA site"
     regulatory      1381..1386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /note="hexamer: AATAAA"
     polyA_site      1394
                     /gene="PIGH"
                     /gene_synonym="GPI-H"
                     /note="major polyA site"
ORIGIN      
        1 gagacggcca gggccggcga gcgcagtgca gcgccgcgcg gtgcgggcgg ccgagtgggg
       61 gcgtcatgga ggatgagcgg agcttttcgg atatctgcgg cggccgcctg gcgctgcagc
      121 gccgctacta ctccccgtcc tgccgggaat tctgcctcag ctgccctcgg ctctcgctgc
      181 gttcgctcac cgctgtcacc tgcacggtgt ggctggcggc ctacggactc ttcaccctct
      241 gcgagaacag catgatcctc tctgctgcca tcttcatcac cctcttaggt ctgcttggtt
      301 atctccattt tgtgaagatt gatcaggaga ctctgttaat cattgattcc cttggcattc
      361 agatgacttc atcttatgct tcaggcaaag aaagcactac cttcatagaa atgggcaagg
      421 tcaaggatat tgtcatcaat gaggccattt acatgcagaa ggtgatttac tacctctgca
      481 tcttattgaa agatccagtg gaaccacatg ggatatccca agtagtaccc gtcttccaga
      541 gtgccaagcc ccggctggac tgcttgattg aagtatacag gagctgccag gagatcctgg
      601 cacaccagaa agccacatca acaagcccat gagccccagc gttcagaagg ccagcattgt
      661 cttccatggg agatgactct taagccatag gggctggttt tccgtactcc aaaccatcag
      721 gtggacacag tcctaggaac cattatggat gtagtgcatc ttagagccat agagcaggtg
      781 actggaaatc taactcagta tatttccgtg tattatagtg ttttccttgt aaggttttgc
      841 ctactttacc aaaggagggg agaccttaag aattttgaca cagtatgtca aaagtaatgt
      901 cagcaaagaa cactttcgga aattgctaag catgttcagg tttactttgt tgatgtttgt
      961 gaagcaaaac aatgggaaac tgacatcaga tgtcttgaga aagctatatt ttccaatagt
     1021 accccttgtg taaagttacg aaaaaaacaa gcccttcagt actggttagc aggaagaaat
     1081 gtcctacaaa agacgagtct gtcaacctag tgcctgtgtt ctgtacaggg cttatttatt
     1141 tactgttaat aaacagatct tccaaaacac acagttacct ggttcacaga tagctgcttt
     1201 ttattgacaa acaagatcat agtatttcag tcatggtgtc aagcacatta atacttttct
     1261 gttactcagc attttttttt atatcagttc aaaagctact tttgccaaga aggatgagac
     1321 aaaaggccag acagaaattg gactttggtt ttcagacatg ggactctcat gttaacaaag
     1381 aataaataag caaa
//
