LOCUS       NM_021996               1954 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase
            1 (FORS blood group) (GBGT1), transcript variant 1, mRNA.
ACCESSION   NM_021996
VERSION     NM_021996.6
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 1954)
  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 1954)
  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 1954)
  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 1954)
  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 1954)
  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 1954)
  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 1954)
  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 1954)
  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 1954)
  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 1954)
  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, BC032499.1 and
            AL162417.23.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_021996.5.
            
            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 (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291498.1, BC032499.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371, SAMEA2467150
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372040.9/ ENSP00000361110.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                CA397865.1         32-48
            18-235              BC032499.1         1-218
            236-236             AL162417.23        141267-141267       c
            237-338             BC032499.1         220-321
            339-339             AL162417.23        141164-141164       c
            340-1267            BC032499.1         323-1250
            1268-1268           AL162417.23        132443-132443       c
            1269-1949           BC032499.1         1252-1932
            1950-1954           AL162417.23        131757-131761       c
FEATURES             Location/Qualifiers
     source          1..1954
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.2"
     gene            1..1954
                     /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..1325
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /EC_number="2.4.1.88"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Forssman glycolipid synthetase (FS); forssman glycolipid
                     synthase-like protein; Forssman blood group"
                     /codon_start=1
                     /product="globoside
                     alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1"
                     /protein_id="NP_068836.2"
                     /db_xref="CCDS:CCDS6960.1"
                     /db_xref="GeneID:26301"
                     /db_xref="HGNC:HGNC:20460"
                     /db_xref="MIM:606074"
                     /translation="MHRRRLALGLGFCLLAGTSLSVLWVYLENWLPVSYVPYYLPCPE
                     IFNMKLHYKREKPLQPVVWSQYPQPKLLEHRPTQLLTLTPWLAPIVSEGTFNPELLQH
                     IYQPLNLTIGVTVFAVGKYTHFIQSFLESAEEFFMRGYRVHYYIFTDNPAAVPGVPLG
                     PHRLLSSIPIQGHSHWEETSMRRMETISQHIAKRAHREVDYLFCLDVDMVFRNPWGPE
                     TLGDLVAAIHPSYYAVPRQQFPYERRRVSTAFVADSEGDFYYGGAVFGGQVARVYEFT
                     RGCHMAILADKANGIMAAWREESHLNRHFISNKPSKVLSPEYLWDDRKPQPPSLKLIR
                     FSTLDKDISCLRS"
     exon            353..418
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            419..469
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            470..505
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            506..640
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     exon            641..1954
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1928..1933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GBGT1"
                     /gene_synonym="A3GALNT; FS; UNQ2513"
                     /note="hexamer: AATAAA"
     polyA_site      1954
                     /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 gagatcttca
      421 acatgaagct gcactacaag agggagaagc cactccagcc cgtggtatgg tcacagtacc
      481 ctcagcccaa gctgctggag cacaggccca cacagctgct gacactcaca ccctggttgg
      541 cgcccatcgt ctccgaggga accttcaacc cagagcttct gcagcacatc taccagccac
      601 tgaacctgac cattggggtc acggtgtttg ccgtggggaa gtacactcat ttcatccagt
      661 ccttcctgga gtcagccgag gagttcttca tgcgtgggta ccgggtgcac tactacatct
      721 tcactgacaa ccctgcagcc gttcccgggg tcccgctggg tccccaccgg cttctcagct
      781 ccatccccat ccagggtcac tcccactggg aggagacatc catgcgccgg atggagacca
      841 tcagccagca cattgctaag agggctcacc gggaggtgga ctacctcttc tgccttgatg
      901 tggacatggt gtttcggaac ccgtggggcc ctgagacctt gggagacctg gtggctgcca
      961 ttcacccaag ctactacgcc gttccccgcc agcagttccc ctatgagcgc aggcgtgttt
     1021 ccactgcctt tgtggcagac agcgaagggg acttctatta tggtggggca gtcttcgggg
     1081 ggcaggtggc cagggtatat gagtttacta ggggctgcca catggccatc ctggcggaca
     1141 aggccaatgg catcatggct gcctggcggg aggaaagcca cctgaaccgt cacttcatct
     1201 caaacaagcc gtccaaggtg ctgtcccccg agtacctctg ggacgacagg aagccccagc
     1261 cacccagcct gaagctgatc cgcttttcta cactggacaa ggatatcagc tgcctgagga
     1321 gctgaccacg gagctggggg ttgccatgga tggggaccca aagacctgca gccaccagtg
     1381 cttcactagc gtgcagacca gccctgtccc gcctccctgt cagtcaggcg aattcaaccg
     1441 gaaaagggac gtggaaaggc cactgtgaac tgcagagggc tgtgcacaca gtagcacaca
     1501 ggatctcaca gtaacgcggc atgggaacag tgagacaggg ggaggggagg cgcagttaca
     1561 aaggcagggc ccggcaggct tgccacgttc tgcagccgtg cctttgcggg gcaggctctg
     1621 aagcctcagc ccgactcaga gtgcctgaac cctgccgcgc cagtcccccg tttattgcat
     1681 attgccctta acgtagcatt tctaataccc tggtgtgaag gcgccctaga ccccttttct
     1741 ctggtcacag gggtcctggg tcctttgatg tctcccaacc acatgtagcc aattcctcac
     1801 tcaggccccc agagtgagcc tttgaaatgg aacaggtcta ggctccctcg gtttcctgca
     1861 ccccaaagtg agccgcactc tcaggggact agccacctcc ttcttaagag ggtttggggc
     1921 agtttataat aaagggggcg tgtgctcaac ccta
//
