LOCUS       NM_001288572            1991 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase
            1 (FORS blood group) (GBGT1), transcript variant 4, mRNA.
ACCESSION   NM_001288572 XM_005272182
VERSION     NM_001288572.2
KEYWORDS    RefSeq.
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 1991)
  AUTHORS   Hult,A.K., McSherry,E., Moller,M. and Olsson,M.L.
  TITLE     GBGT1 is allelically diverse but dispensable in humans and
            naturally occurring anti-FORS1 shows an ABO-restricted pattern
  JOURNAL   Transfusion 58 (8), 2036-2045 (2018)
   PUBMED   30277576
  REMARK    GeneRIF: extended the knowledge of GBGT1 variants, allele
            frequencies, and the characteristics of naturally occurring
            antibodies in our newest carbohydrate blood group system, FORS. The
            finding of c.363C>A-homozygous donors indicates that GBGT1 is
            dispensable.
REFERENCE   2  (bases 1 to 1991)
  AUTHORS   Cid,E., Yamamoto,M. and Yamamoto,F.
  TITLE     Blood group ABO gene-encoded A transferase catalyzes the
            biosynthesis of FORS1 antigen of FORS system upon Met69Thr/Ser
            substitution
  JOURNAL   Blood Adv 2 (12), 1371-1381 (2018)
   PUBMED   29898878
  REMARK    GeneRIF: an amino acid substitution at codon 69 from methionine to
            threonine or serine (Met69Thr/Ser) modified enzymatic specificity
            of Blood group A/B glycosyltransferases and permitted FORS1
            biosynthesis
REFERENCE   3  (bases 1 to 1991)
  AUTHORS   Jacob,F., Hitchins,M.P., Fedier,A., Brennan,K., Nixdorf,S.,
            Hacker,N.F., Ward,R. and Heinzelmann-Schwarz,V.A.
  TITLE     Expression of GBGT1 is epigenetically regulated by DNA methylation
            in ovarian cancer cells
  JOURNAL   BMC Mol Biol 15, 24 (2014)
   PUBMED   25294702
  REMARK    GeneRIF: GBGT1 expression is epigenetically silenced through
            promoter hypermethylation in ovarian cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1991)
  AUTHORS   Svensson,L., Hult,A.K., Stamps,R., Angstrom,J., Teneberg,S.,
            Storry,J.R., Jorgensen,R., Rydberg,L., Henry,S.M. and Olsson,M.L.
  TITLE     Forssman expression on human erythrocytes: biochemical and genetic
            evidence of a new histo-blood group system
  JOURNAL   Blood 121 (8), 1459-1468 (2013)
   PUBMED   23255552
  REMARK    GeneRIF: The Fs synthase gene, GBGT1, in A(pae) individuals encoded
            an arginine to glutamine change at residue 296.
REFERENCE   5  (bases 1 to 1991)
  AUTHORS   Cooke,J., Zhang,H., Greger,L., Silva,A.L., Massey,D., Dawson,C.,
            Metz,A., Ibrahim,A. and Parkes,M.
  TITLE     Mucosal genome-wide methylation changes in inflammatory bowel
            disease
  JOURNAL   Inflamm Bowel Dis 18 (11), 2128-2137 (2012)
   PUBMED   22419656
REFERENCE   6  (bases 1 to 1991)
  AUTHORS   Yamamoto,M., Cid,E. and Yamamoto,F.
  TITLE     Molecular genetic basis of the human Forssman glycolipid antigen
            negativity
  JOURNAL   Sci Rep 2, 975 (2012)
   PUBMED   23240079
REFERENCE   7  (bases 1 to 1991)
  AUTHORS   Szperl,A.M., Ricano-Ponce,I., Li,J.K., Deelen,P., Kanterakis,A.,
            Plagnol,V., van Dijk,F., Westra,H.J., Trynka,G., Mulder,C.J.,
            Swertz,M., Wijmenga,C. and Zheng,H.C.
  TITLE     Exome sequencing in a family segregating for celiac disease
  JOURNAL   Clin Genet 80 (2), 138-147 (2011)
   PUBMED   21627641
REFERENCE   8  (bases 1 to 1991)
  AUTHORS   Casals,F., Ferrer-Admetlla,A., Sikora,M., Ramirez-Soriano,A.,
            Marques-Bonet,T., Despiau,S., Roubinet,F., Calafell,F.,
            Bertranpetit,J. and Blancher,A.
  TITLE     Human pseudogenes of the ABO family show a complex evolutionary
            dynamics and loss of function
  JOURNAL   Glycobiology 19 (6), 583-591 (2009)
   PUBMED   19218399
REFERENCE   9  (bases 1 to 1991)
  AUTHORS   Xu,H., Storch,T., Yu,M., Elliott,S.P. and Haslam,D.B.
  TITLE     Characterization of the human Forssman synthetase gene. An evolving
            association between glycolipid synthesis and host-microbial
            interactions
  JOURNAL   J Biol Chem 274 (41), 29390-29398 (1999)
   PUBMED   10506200
REFERENCE   10 (bases 1 to 1991)
  AUTHORS   Haslam,D.B. and Baenziger,J.U.
  TITLE     Expression cloning of Forssman glycolipid synthetase: a novel
            member of the histo-blood group ABO gene family
  JOURNAL   Proc Natl Acad Sci U S A 93 (20), 10697-10702 (1996)
   PUBMED   8855242
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA397865.1, BI906086.1,
            AK307687.1, AY358175.1 and HY315485.1.
            
            On May 31, 2019 this sequence version replaced NM_001288572.1.
            
            Summary: This gene encodes a glycosyltransferase that plays a role
            in the synthesis of Forssman glycolipid (FG), a member of the
            globoseries glycolipid family. Glycolipids such as FG form
            attachment sites for the binding of pathogens to cells; expression
            of this protein may determine host tropism to microorganisms.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (4) uses an alternate splice site
            in the 5' region and initiates translation at a downstream in-frame
            start codon, compared to variant 1. The encoded isoform (4) has a
            shorter N-terminus than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI906086.1, SRR7346977.1106675.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-322               CA397865.1         32-353
            323-655             BI906086.1         305-637
            656-1038            AK307687.1         656-1038
            1039-1986           AY358175.1         982-1929
            1987-1991           HY315485.1         32-36               c
FEATURES             Location/Qualifiers
     source          1..1991
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..1991
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /note="globoside
                     alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood
                     group)"
                     /db_xref="GeneID:26301"
                     /db_xref="HGNC:HGNC:20460"
                     /db_xref="MIM:606074"
     exon            1..161
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            162..352
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            353..418
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            419..506
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     CDS             460..1362
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /EC_number="2.4.1.88"
                     /note="isoform 4 is encoded by transcript variant 4;
                     Forssman glycolipid synthetase (FS); forssman glycolipid
                     synthase-like protein; Forssman blood group"
                     /codon_start=1
                     /product="globoside
                     alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 4"
                     /protein_id="NP_001275501.1"
                     /db_xref="GeneID:26301"
                     /db_xref="HGNC:HGNC:20460"
                     /db_xref="MIM:606074"
                     /translation="MKLHYKREKPLQPVVWSQYPQPKLLEHRPTQLLTLTPWLAPIVS
                     EGTFNPELLQHIYQPLNLTIGVTVFAVGKYTHFIQSFLESAEEFFMRGYRVHYYIFTD
                     NPAAVPGVPLGPHRLLSSIPIQGHSHWEETSMRRMETISQHIAKRAHREVDYLFCLDV
                     DMVFRNPWGPETLGDLVAAIHPSYYAVPRQQFPYERRRVSTAFVADSEGDFYYGGAVF
                     GGQVARVYEFTRGCHMAILADKANGIMAAWREESHLNRHFISNKPSKVLSPEYLWDDR
                     KPQPPSLKLIRFSTLDKDISCLRS"
     exon            507..542
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            543..677
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            678..1991
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1965..1970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /note="hexamer: AATAAA"
     polyA_site      1991
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /note="major polyA site"
ORIGIN      
        1 ctcttttctg tctggcccgc ggccccgctg cctgccctgc tccaggctcc acctgcgccg
       61 ccgatcgccc gggtatcgcg ggggcccagg ccagctgagt ccgttttccg cgccggggtg
      121 gcgcccctcc aaccgtccta acgccgggcc ggcagcaagg agtgttcctg ggacctcaga
      181 gaccaggctc agagcctgac atccctgcga ggggacagcc tcatccgccc aggccagtgg
      241 gggtctctac aagtgcccag gctcaggtgc agcccccagc aatgcatcgc cggagactgg
      301 ccctgggtct ggggttctgc ctgttggcgg gcacaagcct cagtgtcctg tgggtgtatc
      361 ttgagaactg gctgccagtc tcctatgtcc cctattatct cccctgccca gagatcttac
      421 ccatgatgat ggctctttct tgcctctgcc accagcaaca tgaagctgca ctacaagagg
      481 gagaagccac tccagcccgt ggtatggtca cagtaccctc agcccaagct gctggagcac
      541 aggcccacac agctgctgac actcacaccc tggttggcgc ccatcgtctc cgagggaacc
      601 ttcaacccag agcttctgca gcacatctac cagccactga acctgaccat tggggtcacg
      661 gtgtttgccg tggggaagta cactcatttc atccagtcct tcctggagtc agccgaggag
      721 ttcttcatgc gtgggtaccg ggtgcactac tacatcttca ctgacaaccc tgcagccgtt
      781 cccggggtcc cgctgggtcc ccaccggctt ctcagctcca tccccatcca gggtcactcc
      841 cactgggagg agacatccat gcgccggatg gagaccatca gccagcacat tgctaagagg
      901 gctcaccggg aggtggacta cctcttctgc cttgatgtgg acatggtgtt tcggaacccg
      961 tggggccctg agaccttggg agacctggtg gctgccattc acccaagcta ctacgccgtt
     1021 ccccgccagc agttccccta tgagcgcagg cgtgtttcca ctgcctttgt ggcagacagc
     1081 gaaggggact tctattatgg tggggcagtc ttcggggggc aggtggccag ggtatatgag
     1141 tttactaggg gctgccacat ggccatcctg gcggacaagg ccaatggcat catggctgcc
     1201 tggcgggagg aaagccacct gaaccgtcac ttcatctcaa acaagccgtc caaggtgctg
     1261 tcccccgagt acctctggga cgacaggaag ccccagccac ccagcctgaa gctgatccgc
     1321 ttttctacac tggacaagga tatcagctgc ctgaggagct gaccacggag ctgggggttg
     1381 ccatggatgg ggacccaaag acctgcagcc accagtgctt cactagcgtg cagaccagcc
     1441 ctgtcccgcc tccctgtcag tcaggcgaat tcaaccggaa aagggacgtg gaaaggccac
     1501 tgtgaactgc agagggctgt gcacacagta gcacacagga tctcacagta acgcggcatg
     1561 ggaacagtga gacaggggga ggggaggcgc agttacaaag gcagggcccg gcaggcttgc
     1621 cacgttctgc agccgtgcct ttgcggggca ggctctgaag cctcagcccg actcagagtg
     1681 cctgaaccct gccgcgccag tcccccgttt attgcatatt gcccttaacg tagcatttct
     1741 aataccctgg tgtgaaggcg ccctagaccc cttttctctg gtcacagggg tcctgggtcc
     1801 tttgatgtct cccaaccaca tgtagccaat tcctcactca ggcccccaga gtgagccttt
     1861 gaaatggaac aggtctaggc tccctcggtt tcctgcaccc caaagtgagc cgcactctca
     1921 ggggactagc cacctccttc ttaagagggt ttggggcagt ttataataaa gggggcgtgt
     1981 gctcaaccct a
//
