LOCUS       NM_001349136            3293 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1
            (Globoside blood group) (B3GALNT1), transcript variant 14, mRNA.
ACCESSION   NM_001349136
VERSION     NM_001349136.2
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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 3293)
  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 13, 2020 this sequence version replaced NM_001349136.1.
            
            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 (14) 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 :: SRR1660803.247512.1,
                                           SRR14372079.748446.1 [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
            116-203             AC021649.18        89403-89490
            204-294             AC021649.18        90292-90382
            295-387             AC021649.18        90604-90696
            388-3293            AC021649.18        107021-109926
FEATURES             Location/Qualifiers
     source          1..3293
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..3293
                     /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..203
                     /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            204..294
                     /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            295..387
                     /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            388..3293
                     /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             422..1417
                     /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 14;
                     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_001336065.1"
                     /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      2173..2178
                     /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      2193
                     /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      2891..2896
                     /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      2911
                     /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      3257..3262
                     /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      3293
                     /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 aggagattgc
      121 ctgcgtttag gaggtggctg cgttgtggga aaagctatca aggaagaaat tgccaaacca
      181 tgtctttttt tctgttttca gagtagttca caacagatct gagtgtttta attaagcatg
      241 gaatacagaa aacaacaaaa aacttaagct ttaatttcat ctggaattcc acagagacaa
      301 ggccacttta tgtttcccag gctggactgg aacccctggg ctcaaatgat cctcctacct
      361 aagcctgcag agtagcgagg acttcagaac cttcggctcg cgtgcttctg agctgctgtg
      421 gatggcctcg gctctctgga ctgtccttcc gagtaggatg tcactgagat ccctcaaatg
      481 gagcctcctg ctgctgtcac tcctgagttt ctttgtgatg tggtacctca gccttcccca
      541 ctacaatgtg atagaacgcg tgaactggat gtacttctat gagtatgagc cgatttacag
      601 acaagacttt cacttcacac ttcgagagca ttcaaactgc tctcatcaaa atccatttct
      661 ggtcattctg gtgacctccc acccttcaga tgtgaaagcc aggcaggcca ttagagttac
      721 ttggggtgaa aaaaagtctt ggtggggata tgaggttctt acatttttct tattaggcca
      781 agaggctgaa aaggaagaca aaatgttggc attgtcctta gaggatgaac accttcttta
      841 tggtgacata atccgacaag attttttaga cacatataat aacctgacct tgaaaaccat
      901 tatggcattc aggtgggtaa ctgagttttg ccccaatgcc aagtacgtaa tgaagacaga
      961 cactgatgtt ttcatcaata ctggcaattt agtgaagtat cttttaaacc taaaccactc
     1021 agagaagttt ttcacaggtt atcctctaat tgataattat tcctatagag gattttacca
     1081 aaaaacccat atttcttacc aggagtatcc tttcaaggtg ttccctccat actgcagtgg
     1141 gttgggttat ataatgtcca gagatttggt gccaaggatc tatgaaatga tgggtcacgt
     1201 aaaacccatc aagtttgaag atgtttatgt cgggatctgt ttgaatttat taaaagtgaa
     1261 cattcatatt ccagaagaca caaatctttt ctttctatat agaatccatt tggatgtctg
     1321 tcaactgaga cgtgtgattg cagcccatgg cttttcttcc aaggagatca tcactttttg
     1381 gcaggtcatg ctaaggaaca ccacatgcca ttattaactt cacattctac aaaaagccta
     1441 gaaggacagg atactttgtg gaaagtgtta aataaagtag gtactgtgga aaattcatgg
     1501 ggaggtcagt gtgctggctt acactgaact gaaactcatg aaaaacccag actggagact
     1561 ggagggttac acttgtgatt tattagtcag gcccttcaaa gatgatatgt ggaggaatta
     1621 aatataaagg aattggaggt ttttgctaaa gaaattaata ggaccaaaca atttggacat
     1681 gtcattctgt agactagaat ttcttaaaag ggtgttactg agttataagc tcactaggct
     1741 gtaaaaacaa aacaatgtag agttttattt attgaacaat gtagtcactt gaaggttttg
     1801 tgtatatctt atgtggatta ccaatttaaa aatatatgta gttctgtgtc aaaaaacttc
     1861 ttcactgaag ttatactgaa caaaatttta cctgtttttg gtcatttata aagtacttca
     1921 agatgttgca gtatttcaca gttattatta tttaaaatta cttcaacttt gtgtttttaa
     1981 atgttttgac gatttcaata caagataaaa aggatagtga atcattcttt acatgcaaac
     2041 attttccagt tacttaactg atcagtttat tattgataca tcactccatt aatgtaaagt
     2101 cataggtcat tattgcatat cagtaatctc ttggactttg ttaaatattt tactgtggta
     2161 atatagagaa gaattaaagc aagaaaatct gaagtattgt cttgttttta aaaaatacag
     2221 ttcctagtgt ttttagaagt cacttaattt gtctcatttt tccacctgga aattaggaat
     2281 aatgtagaat gcaaggcagt aatttccttt tggaaaggac tctgaaggca gaaaagaagg
     2341 gagagaacct catgggcaga atattataaa aagagtgtca tattccagca tttgaattgg
     2401 aaagagaaga gtgaagatcc aagttgcatt attaatctgc cctgtgtttt ttccttttaa
     2461 caatcagttt gagctgctgc tgttatgagt ttctcatcaa gatgaaagcc ctaatatgta
     2521 aagtcaaatc cgatttaaat tttgtgcttt tatagaaaga aatttcttca tagacgtggt
     2581 gatatatcat ttgttggacc tgctaatagt aggtcaaagg ggagcactcc ttgccccctg
     2641 ttcctgggtt tatgcagttt tctttttaga gtttatatag ggcaagtggt tctttttctc
     2701 tgaattacag gatggaaaaa ggtcatatcc tttgtcagga aatataaact tgaaagtatg
     2761 tagtcagctc ttgtaatact catatttatg attgtcctat atgaaaaaca acttcagtta
     2821 aaactataat gtgtgattct gtataacaag gtgatgtctg tttcccaggg ctcagaccta
     2881 atccagttat aataaaatca attaaatgaa atattctata gaatcgatct atgcccttgt
     2941 taatctccat ccatatagga gtcacgttct ttaagacaga tggtggtagt tatttttgtg
     3001 gcatggttag atttgactgg ttttgcagaa gattacagtt atgtactgca taatgacata
     3061 tacaatagtg gtcccataaa attataatgg agcagaaaat ctattgcctc atgatgtttt
     3121 agccgtttta atgtcatagc ctagtgcatt actcacgtgt ctgtggagat gctggtgtaa
     3181 acaaacctac tacactgcca gttgtataaa agtacagcac attcagttat gtacagtatg
     3241 taatactgat aatgacaata aatgacaccg gtttgtgtat ttacttttta taa
//
