LOCUS       NM_001349137            3525 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1
            (Globoside blood group) (B3GALNT1), transcript variant 15, mRNA.
ACCESSION   NM_001349137 XM_006713803
VERSION     NM_001349137.2
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 3525)
  AUTHORS   Ricci Hagman,J., Hult,A.K., Westman,J.S., Hosseini-Maaf,B.,
            Jongruamklang,P., Saipin,J., Bejrachandra,S. and Olsson,M.L.
  TITLE     Multiple miscarriages in two sisters of Thai origin with the rare
            Pk phenotype caused by a novel nonsense mutation at the B3GALNT1
            locus
  JOURNAL   Transfus Med 29 (3), 202-208 (2019)
   PUBMED   29873420
  REMARK    GeneRIF: Multiple miscarriages in two sisters of Thai origin with
            the rare P(k) phenotype caused by a novel nonsense mutation at the
            B3GALNT1 locus.
REFERENCE   2  (bases 1 to 3525)
  AUTHORS   Westman,J.S., Benktander,J., Storry,J.R., Peyrard,T., Hult,A.K.,
            Hellberg,A., Teneberg,S. and Olsson,M.L.
  TITLE     Identification of the Molecular and Genetic Basis of PX2, a
            Glycosphingolipid Blood Group Antigen Lacking on
            Globoside-deficient Erythrocytes
  JOURNAL   J Biol Chem 290 (30), 18505-18518 (2015)
   PUBMED   26055721
  REMARK    GeneRIF: b1,3GalNAc-T1 uses different acceptors to form
            immunologically distinct glycosphingolipids.
REFERENCE   3  (bases 1 to 3525)
  AUTHORS   Lan,X., Hong,X., Xu,X., Chen,S., Ma,K., Liu,Y., He,J., Zhu,F. and
            Lyu,H.
  TITLE     [A rare Pk phenotype caused by a 433 C>T mutation of the
            beta-1,3-N-acetylgalactosyltransferase gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 32 (3), 381-384 (2015)
   PUBMED   26037356
  REMARK    GeneRIF: The Pk phenotype is resulted from 433 C>T mutation in the
            B3GALNT1 gene.
REFERENCE   4  (bases 1 to 3525)
  AUTHORS   Lin,J.J., Wang,X.D. and Zhu,S.Y.
  TITLE     alpha-1,3-N-acetylgalactose aminotransferase gene 539G>C mutation
            leads to the A2B isoform
  JOURNAL   Genet Mol Res 13 (2), 2987-2993 (2014)
   PUBMED   24782133
  REMARK    GeneRIF: The N-acetylgalactose aminotransferase gene 539G>C
            mutation resulted in A2B phenotype generation, and individual serum
            contained the anti-A1 antibody.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3525)
  AUTHORS   Umeyama,H., Iwadate,M. and Taguchi,Y.H.
  TITLE     TINAGL1 and B3GALNT1 are potential therapy target genes to suppress
            metastasis in non-small cell lung cancer
  JOURNAL   BMC Genomics 15 Suppl 9 (Suppl 9), S2 (2014)
   PUBMED   25521548
  REMARK    GeneRIF: TINAGL1 and B3GALNT1 are possible candidates for drug
            compounds that inhibit their gene expression
REFERENCE   6  (bases 1 to 3525)
  AUTHORS   Okajima,T., Nakamura,Y., Uchikawa,M., Haslam,D.B., Numata,S.I.,
            Furukawa,K., Urano,T. and Furukawa,K.
  TITLE     Expression cloning of human globoside synthase cDNAs.
            Identification of beta 3Gal-T3 as
            UDP-N-acetylgalactosamine:globotriaosylceramide beta
            1,3-N-acetylgalactosaminyltransferase
  JOURNAL   J Biol Chem 275 (51), 40498-40503 (2000)
   PUBMED   10993897
REFERENCE   7  (bases 1 to 3525)
  AUTHORS   Amado,M., Almeida,R., Schwientek,T. and Clausen,H.
  TITLE     Identification and characterization of large galactosyltransferase
            gene families: galactosyltransferases for all functions
  JOURNAL   Biochim Biophys Acta 1473 (1), 35-53 (1999)
   PUBMED   10580128
  REMARK    Review article
REFERENCE   8  (bases 1 to 3525)
  AUTHORS   Amado,M., Almeida,R., Carneiro,F., Levery,S.B., Holmes,E.H.,
            Nomoto,M., Hollingsworth,M.A., Hassan,H., Schwientek,T.,
            Nielsen,P.A., Bennett,E.P. and Clausen,H.
  TITLE     A family of human beta3-galactosyltransferases. Characterization of
            four members of a
            UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine
            beta-1,3-galactosyltransferase family
  JOURNAL   J Biol Chem 273 (21), 12770-12778 (1998)
   PUBMED   9582303
REFERENCE   9  (bases 1 to 3525)
  AUTHORS   Almeida,R., Amado,M., David,L., Levery,S.B., Holmes,E.H., Merkx,G.,
            van Kessel,A.G., Rygaard,E., Hassan,H., Bennett,E. and Clausen,H.
  TITLE     A family of human beta4-galactosyltransferases. Cloning and
            expression of two novel UDP-galactose:beta-n-acetylglucosamine
            beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3
  JOURNAL   J Biol Chem 272 (51), 31979-31991 (1997)
   PUBMED   9405390
  REMARK    Erratum:[J Biol Chem 1998 Jul 17;273(29):18674]
REFERENCE   10 (bases 1 to 3525)
  AUTHORS   Taniguchi,N. and Makita,A.
  TITLE     Purification and characterization of UDP-N-acetylgalactosamine:
            globotriaosylceramide beta-3-N-acetylgalactosaminyltransferase, a
            synthase of human blood group P antigen, from canine spleen
  JOURNAL   J Biol Chem 259 (9), 5637-5642 (1984)
   PUBMED   6425294
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021649.18.
            
            On Aug 14, 2020 this sequence version replaced NM_001349137.1.
            
            Summary: This gene is a member of the
            beta-1,3-galactosyltransferase (beta3GalT) gene family. This family
            encodes type II membrane-bound glycoproteins with diverse enzymatic
            functions using different donor substrates (UDP-galactose and
            UDP-N-acetylglucosamine) and different acceptor sugars
            (N-acetylglucosamine, galactose, N-acetylgalactosamine). The
            beta3GalT genes are distantly related to the Drosophila Brainiac
            gene and have the protein coding sequence contained in a single
            exon. The beta3GalT proteins also contain conserved sequences not
            found in the beta4GalT or alpha3GalT proteins. The carbohydrate
            chains synthesized by these enzymes are designated as type 1,
            whereas beta4GalT enzymes synthesize type 2 carbohydrate chains.
            The ratio of type 1:type 2 chains changes during embryogenesis. By
            sequence similarity, the beta3GalT genes fall into at least two
            groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3,
            beta3GalT5). The encoded protein of this gene does not use
            N-acetylglucosamine as an acceptor sugar at all. [provided by
            RefSeq, Mar 2017].
            
            Transcript Variant: This variant (15) encodes isoform b. Variants
            1-5 and 8-39 all encode the same isoform (b).
            
            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.
            
            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 :: SRR14038193.1900516.1,
                                           SRR1660807.151262.1 [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
            1-115               AC021649.18        88460-88574
            116-226             AC021649.18        88914-89024
            227-314             AC021649.18        89403-89490
            315-405             AC021649.18        90292-90382
            406-500             AC021649.18        92576-92670
            501-619             AC021649.18        103747-103865
            620-3525            AC021649.18        107021-109926
FEATURES             Location/Qualifiers
     source          1..3525
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..3525
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="beta-1,3-N-acetylgalactosaminyltransferase 1
                     (Globoside blood group)"
                     /db_xref="GeneID:8706"
                     /db_xref="HGNC:HGNC:918"
                     /db_xref="MIM:603094"
     exon            1..115
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     exon            116..226
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     exon            227..314
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     exon            315..405
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     exon            406..500
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     exon            501..619
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     exon            620..3525
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /inference="alignment:Splign:2.1.0"
     CDS             654..1649
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /EC_number="2.4.1.79"
                     /note="isoform b is encoded by transcript variant 15;
                     globoside synthase; globotriaosylceramide
                     3-beta-N-acetylgalactosaminyltransferase; brainiac1; P
                     blood group globoside; beta-1,3-GalNAc-T1;
                     beta-1,3-GalTase 3; UDP-Gal:betaGlcNAc beta
                     1,3-galactosyltransferase, polypeptide 3 (Globoside blood
                     group); P antigen synthase; UDP-GalNAc:betaGlcNAc
                     beta-1,3-galactosaminyltransferase, polypeptide 1
                     (Globoside blood group);
                     UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1;
                     beta-1,3-galactosyltransferase 3;
                     galactosylgalactosylglucosylceramide
                     beta-D-acetyl-galactosaminyltransferase;
                     UDP-N-acetylgalactosamine:globotriaosylceramide
                     beta-1,3-N-acetylgalactosaminyltransferase"
                     /codon_start=1
                     /product="UDP-GalNAc:beta-1,
                     3-N-acetylgalactosaminyltransferase 1 isoform b"
                     /protein_id="NP_001336066.1"
                     /db_xref="CCDS:CCDS3193.1"
                     /db_xref="GeneID:8706"
                     /db_xref="HGNC:HGNC:918"
                     /db_xref="MIM:603094"
                     /translation="MASALWTVLPSRMSLRSLKWSLLLLSLLSFFVMWYLSLPHYNVI
                     ERVNWMYFYEYEPIYRQDFHFTLREHSNCSHQNPFLVILVTSHPSDVKARQAIRVTWG
                     EKKSWWGYEVLTFFLLGQEAEKEDKMLALSLEDEHLLYGDIIRQDFLDTYNNLTLKTI
                     MAFRWVTEFCPNAKYVMKTDTDVFINTGNLVKYLLNLNHSEKFFTGYPLIDNYSYRGF
                     YQKTHISYQEYPFKVFPPYCSGLGYIMSRDLVPRIYEMMGHVKPIKFEDVYVGICLNL
                     LKVNIHIPEDTNLFFLYRIHLDVCQLRRVIAAHGFSSKEIITFWQVMLRNTTCHY"
     regulatory      2405..2410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="hexamer: ATTAAA"
     polyA_site      2425
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="major polyA site"
     regulatory      3123..3128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="hexamer: AATAAA"
     polyA_site      3143
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="major polyA site"
     regulatory      3489..3494
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="hexamer: AATAAA"
     polyA_site      3525
                     /gene="B3GALNT1"
                     /gene_synonym="3-GalNAc-T1; 3-GalTase; b3Gal-T3;
                     B3GALANT1; B3GALT3; beta-1; beta-3-Gx-T3; beta3Gal-T3;
                     galT3; Gb4Cer; GLCT3; GLOB; P1"
                     /note="major polyA site"
ORIGIN      
        1 gtggtctgcg cgcgcccggc cgtgcgtgcg gatgcgggga ggctgcgtgt gtgcgcaggg
       61 agagaacgcc ggccaccttc ccgcttccga gctgggtgcg cgccgagcac aggagggtgc
      121 aatacctgcc ttgcgtcgcc cgtgccgctc cagccaccgt caaatccggg tagcgacccg
      181 gggcgtttgc agcggtgccg aggaagagga cgggaacggt gttacgattg cctgcgttta
      241 ggaggtggct gcgttgtggg aaaagctatc aaggaagaaa ttgccaaacc atgtcttttt
      301 ttctgttttc agagtagttc acaacagatc tgagtgtttt aattaagcat ggaatacaga
      361 aaacaacaaa aaacttaagc tttaatttca tctggaattc cacagttttc ttagctccct
      421 ggacccggtt gacctgttgg ctcttcccgc tggctgctct atcacgtggt gctctccgac
      481 tactcacccc gagtgtaaag tcttgctgct ctgttgccca ggctggagta cagtggcagg
      541 atctcagctc actgcaatct ccgtctctca ggtttaagca gttctcctgc ctcagcctcc
      601 caagtaggtg ggactacaga accttcggct cgcgtgcttc tgagctgctg tggatggcct
      661 cggctctctg gactgtcctt ccgagtagga tgtcactgag atccctcaaa tggagcctcc
      721 tgctgctgtc actcctgagt ttctttgtga tgtggtacct cagccttccc cactacaatg
      781 tgatagaacg cgtgaactgg atgtacttct atgagtatga gccgatttac agacaagact
      841 ttcacttcac acttcgagag cattcaaact gctctcatca aaatccattt ctggtcattc
      901 tggtgacctc ccacccttca gatgtgaaag ccaggcaggc cattagagtt acttggggtg
      961 aaaaaaagtc ttggtgggga tatgaggttc ttacattttt cttattaggc caagaggctg
     1021 aaaaggaaga caaaatgttg gcattgtcct tagaggatga acaccttctt tatggtgaca
     1081 taatccgaca agatttttta gacacatata ataacctgac cttgaaaacc attatggcat
     1141 tcaggtgggt aactgagttt tgccccaatg ccaagtacgt aatgaagaca gacactgatg
     1201 ttttcatcaa tactggcaat ttagtgaagt atcttttaaa cctaaaccac tcagagaagt
     1261 ttttcacagg ttatcctcta attgataatt attcctatag aggattttac caaaaaaccc
     1321 atatttctta ccaggagtat cctttcaagg tgttccctcc atactgcagt gggttgggtt
     1381 atataatgtc cagagatttg gtgccaagga tctatgaaat gatgggtcac gtaaaaccca
     1441 tcaagtttga agatgtttat gtcgggatct gtttgaattt attaaaagtg aacattcata
     1501 ttccagaaga cacaaatctt ttctttctat atagaatcca tttggatgtc tgtcaactga
     1561 gacgtgtgat tgcagcccat ggcttttctt ccaaggagat catcactttt tggcaggtca
     1621 tgctaaggaa caccacatgc cattattaac ttcacattct acaaaaagcc tagaaggaca
     1681 ggatactttg tggaaagtgt taaataaagt aggtactgtg gaaaattcat ggggaggtca
     1741 gtgtgctggc ttacactgaa ctgaaactca tgaaaaaccc agactggaga ctggagggtt
     1801 acacttgtga tttattagtc aggcccttca aagatgatat gtggaggaat taaatataaa
     1861 ggaattggag gtttttgcta aagaaattaa taggaccaaa caatttggac atgtcattct
     1921 gtagactaga atttcttaaa agggtgttac tgagttataa gctcactagg ctgtaaaaac
     1981 aaaacaatgt agagttttat ttattgaaca atgtagtcac ttgaaggttt tgtgtatatc
     2041 ttatgtggat taccaattta aaaatatatg tagttctgtg tcaaaaaact tcttcactga
     2101 agttatactg aacaaaattt tacctgtttt tggtcattta taaagtactt caagatgttg
     2161 cagtatttca cagttattat tatttaaaat tacttcaact ttgtgttttt aaatgttttg
     2221 acgatttcaa tacaagataa aaaggatagt gaatcattct ttacatgcaa acattttcca
     2281 gttacttaac tgatcagttt attattgata catcactcca ttaatgtaaa gtcataggtc
     2341 attattgcat atcagtaatc tcttggactt tgttaaatat tttactgtgg taatatagag
     2401 aagaattaaa gcaagaaaat ctgaagtatt gtcttgtttt taaaaaatac agttcctagt
     2461 gtttttagaa gtcacttaat ttgtctcatt tttccacctg gaaattagga ataatgtaga
     2521 atgcaaggca gtaatttcct tttggaaagg actctgaagg cagaaaagaa gggagagaac
     2581 ctcatgggca gaatattata aaaagagtgt catattccag catttgaatt ggaaagagaa
     2641 gagtgaagat ccaagttgca ttattaatct gccctgtgtt ttttcctttt aacaatcagt
     2701 ttgagctgct gctgttatga gtttctcatc aagatgaaag ccctaatatg taaagtcaaa
     2761 tccgatttaa attttgtgct tttatagaaa gaaatttctt catagacgtg gtgatatatc
     2821 atttgttgga cctgctaata gtaggtcaaa ggggagcact ccttgccccc tgttcctggg
     2881 tttatgcagt tttcttttta gagtttatat agggcaagtg gttctttttc tctgaattac
     2941 aggatggaaa aaggtcatat cctttgtcag gaaatataaa cttgaaagta tgtagtcagc
     3001 tcttgtaata ctcatattta tgattgtcct atatgaaaaa caacttcagt taaaactata
     3061 atgtgtgatt ctgtataaca aggtgatgtc tgtttcccag ggctcagacc taatccagtt
     3121 ataataaaat caattaaatg aaatattcta tagaatcgat ctatgccctt gttaatctcc
     3181 atccatatag gagtcacgtt ctttaagaca gatggtggta gttatttttg tggcatggtt
     3241 agatttgact ggttttgcag aagattacag ttatgtactg cataatgaca tatacaatag
     3301 tggtcccata aaattataat ggagcagaaa atctattgcc tcatgatgtt ttagccgttt
     3361 taatgtcata gcctagtgca ttactcacgt gtctgtggag atgctggtgt aaacaaacct
     3421 actacactgc cagttgtata aaagtacagc acattcagtt atgtacagta tgtaatactg
     3481 ataatgacaa taaatgacac cggtttgtgt atttactttt tataa
//
