LOCUS       NM_001282632            1903 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase
            1 (FORS blood group) (GBGT1), transcript variant 3, mRNA.
ACCESSION   NM_001282632 XM_005272181
VERSION     NM_001282632.2
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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 1903)
  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 AK303825.1 and AL162417.23.
            
            On May 31, 2019 this sequence version replaced NM_001282632.1.
            
            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 (3) lacks an in-frame exon in the
            5' coding region compared to variant 1. The encoded isoform (3) is
            shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303825.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1449              AK303825.1         1-1449
            1450-1903           AL162417.23        131757-132210       c
FEATURES             Location/Qualifiers
     source          1..1903
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..1903
                     /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"
     CDS             282..1274
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /EC_number="2.4.1.88"
                     /note="isoform 3 is encoded by transcript variant 3;
                     Forssman glycolipid synthetase (FS); forssman glycolipid
                     synthase-like protein; Forssman blood group"
                     /codon_start=1
                     /product="globoside
                     alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 3"
                     /protein_id="NP_001269561.1"
                     /db_xref="CCDS:CCDS65175.1"
                     /db_xref="GeneID:26301"
                     /db_xref="HGNC:HGNC:20460"
                     /db_xref="MIM:606074"
                     /translation="MHRRRLALGLGFCLLAGTSLSVLWVYLENWLPVSYVPYYLPCPE
                     ILSQYPQPKLLEHRPTQLLTLTPWLAPIVSEGTFNPELLQHIYQPLNLTIGVTVFAVG
                     KYTHFIQSFLESAEEFFMRGYRVHYYIFTDNPAAVPGVPLGPHRLLSSIPIQGHSHWE
                     ETSMRRMETISQHIAKRAHREVDYLFCLDVDMVFRNPWGPETLGDLVAAIHPSYYAVP
                     RQQFPYERRRVSTAFVADSEGDFYYGGAVFGGQVARVYEFTRGCHMAILADKANGIMA
                     AWREESHLNRHFISNKPSKVLSPEYLWDDRKPQPPSLKLIRFSTLDKDISCLRS"
     exon            353..418
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            419..454
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            455..589
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            590..1903
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1877..1882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /note="hexamer: AATAAA"
     polyA_site      1903
                     /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 gagatcttgt
      421 cacagtaccc tcagcccaag ctgctggagc acaggcccac acagctgctg acactcacac
      481 cctggttggc gcccatcgtc tccgagggaa ccttcaaccc agagcttctg cagcacatct
      541 accagccact gaacctgacc attggggtca cggtgtttgc cgtggggaag tacactcatt
      601 tcatccagtc cttcctggag tcagccgagg agttcttcat gcgtgggtac cgggtgcact
      661 actacatctt cactgacaac cctgcagccg ttcccggggt cccgctgggt ccccaccggc
      721 ttctcagctc catccccatc cagggtcact cccactggga ggagacatcc atgcgccgga
      781 tggagaccat cagccagcac attgctaaga gggctcaccg ggaggtggac tacctcttct
      841 gccttgatgt ggacatggtg tttcggaacc cgtggggccc tgagaccttg ggagacctgg
      901 tggctgccat tcacccaagc tactacgccg ttccccgcca gcagttcccc tatgagcgca
      961 ggcgtgtttc cactgccttt gtggcagaca gcgaagggga cttctattat ggtggggcag
     1021 tcttcggggg gcaggtggcc agggtatatg agtttactag gggctgccac atggccatcc
     1081 tggcggacaa ggccaatggc atcatggctg cctggcggga ggaaagccac ctgaaccgtc
     1141 acttcatctc aaacaagccg tccaaggtgc tgtcccccga gtacctctgg gacgacagga
     1201 agccccagcc acccagcctg aagctgatcc gcttttctac actggacaag gatatcagct
     1261 gcctgaggag ctgaccacgg agctgggggt tgccatggat ggggacccaa agacctgcag
     1321 ccaccagtgc ttcactagcg tgcagaccag ccctgtcccg cctccctgtc agtcaggcga
     1381 attcaaccgg aaaagggacg tggaaaggcc actgtgaact gcagagggct gtgcacacag
     1441 tagcacacag gatctcacag taacgcggca tgggaacagt gagacagggg gaggggaggc
     1501 gcagttacaa aggcagggcc cggcaggctt gccacgttct gcagccgtgc ctttgcgggg
     1561 caggctctga agcctcagcc cgactcagag tgcctgaacc ctgccgcgcc agtcccccgt
     1621 ttattgcata ttgcccttaa cgtagcattt ctaataccct ggtgtgaagg cgccctagac
     1681 cccttttctc tggtcacagg ggtcctgggt cctttgatgt ctcccaacca catgtagcca
     1741 attcctcact caggccccca gagtgagcct ttgaaatgga acaggtctag gctccctcgg
     1801 tttcctgcac cccaaagtga gccgcactct caggggacta gccacctcct tcttaagagg
     1861 gtttggggca gtttataata aagggggcgt gtgctcaacc cta
//
