LOCUS       NM_003781               3295 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1
            (Globoside blood group) (B3GALNT1), transcript variant 1, mRNA.
ACCESSION   NM_003781
VERSION     NM_003781.4
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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 3295)
  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 DA188324.1, AK022491.1,
            AB060691.1 and AI093705.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003781.3.
            
            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 (1) encodes isoform b. Variants
            1-5 and 8-39 all encode the same isoform (b).
            
            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 :: BC047618.1, SRR1660803.27664.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320474.10/ ENSP00000323479.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DA188324.1         24-48
            26-876              AK022491.1         1-851
            877-2923            AB060691.1         231-2277
            2924-3295           AI093705.1         2-373               c
FEATURES             Location/Qualifiers
     source          1..3295
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.1"
     gene            1..3295
                     /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..389
                     /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            390..3295
                     /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             424..1419
                     /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 1;
                     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_003772.1"
                     /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      2175..2180
                     /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      2195
                     /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      2893..2898
                     /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      2913
                     /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      3259..3264
                     /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      3295
                     /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 acagttttct
      301 tagctccctg gacccggttg acctgttggc tcttcccgct ggctgctcta tcacgtggtg
      361 ctctccgact actcaccccg agtgtaaaga accttcggct cgcgtgcttc tgagctgctg
      421 tggatggcct cggctctctg gactgtcctt ccgagtagga tgtcactgag atccctcaaa
      481 tggagcctcc tgctgctgtc actcctgagt ttctttgtga tgtggtacct cagccttccc
      541 cactacaatg tgatagaacg cgtgaactgg atgtacttct atgagtatga gccgatttac
      601 agacaagact ttcacttcac acttcgagag cattcaaact gctctcatca aaatccattt
      661 ctggtcattc tggtgacctc ccacccttca gatgtgaaag ccaggcaggc cattagagtt
      721 acttggggtg aaaaaaagtc ttggtgggga tatgaggttc ttacattttt cttattaggc
      781 caagaggctg aaaaggaaga caaaatgttg gcattgtcct tagaggatga acaccttctt
      841 tatggtgaca taatccgaca agatttttta gacacatata ataacctgac cttgaaaacc
      901 attatggcat tcaggtgggt aactgagttt tgccccaatg ccaagtacgt aatgaagaca
      961 gacactgatg ttttcatcaa tactggcaat ttagtgaagt atcttttaaa cctaaaccac
     1021 tcagagaagt ttttcacagg ttatcctcta attgataatt attcctatag aggattttac
     1081 caaaaaaccc atatttctta ccaggagtat cctttcaagg tgttccctcc atactgcagt
     1141 gggttgggtt atataatgtc cagagatttg gtgccaagga tctatgaaat gatgggtcac
     1201 gtaaaaccca tcaagtttga agatgtttat gtcgggatct gtttgaattt attaaaagtg
     1261 aacattcata ttccagaaga cacaaatctt ttctttctat atagaatcca tttggatgtc
     1321 tgtcaactga gacgtgtgat tgcagcccat ggcttttctt ccaaggagat catcactttt
     1381 tggcaggtca tgctaaggaa caccacatgc cattattaac ttcacattct acaaaaagcc
     1441 tagaaggaca ggatactttg tggaaagtgt taaataaagt aggtactgtg gaaaattcat
     1501 ggggaggtca gtgtgctggc ttacactgaa ctgaaactca tgaaaaaccc agactggaga
     1561 ctggagggtt acacttgtga tttattagtc aggcccttca aagatgatat gtggaggaat
     1621 taaatataaa ggaattggag gtttttgcta aagaaattaa taggaccaaa caatttggac
     1681 atgtcattct gtagactaga atttcttaaa agggtgttac tgagttataa gctcactagg
     1741 ctgtaaaaac aaaacaatgt agagttttat ttattgaaca atgtagtcac ttgaaggttt
     1801 tgtgtatatc ttatgtggat taccaattta aaaatatatg tagttctgtg tcaaaaaact
     1861 tcttcactga agttatactg aacaaaattt tacctgtttt tggtcattta taaagtactt
     1921 caagatgttg cagtatttca cagttattat tatttaaaat tacttcaact ttgtgttttt
     1981 aaatgttttg acgatttcaa tacaagataa aaaggatagt gaatcattct ttacatgcaa
     2041 acattttcca gttacttaac tgatcagttt attattgata catcactcca ttaatgtaaa
     2101 gtcataggtc attattgcat atcagtaatc tcttggactt tgttaaatat tttactgtgg
     2161 taatatagag aagaattaaa gcaagaaaat ctgaagtatt gtcttgtttt taaaaaatac
     2221 agttcctagt gtttttagaa gtcacttaat ttgtctcatt tttccacctg gaaattagga
     2281 ataatgtaga atgcaaggca gtaatttcct tttggaaagg actctgaagg cagaaaagaa
     2341 gggagagaac ctcatgggca gaatattata aaaagagtgt catattccag catttgaatt
     2401 ggaaagagaa gagtgaagat ccaagttgca ttattaatct gccctgtgtt ttttcctttt
     2461 aacaatcagt ttgagctgct gctgttatga gtttctcatc aagatgaaag ccctaatatg
     2521 taaagtcaaa tccgatttaa attttgtgct tttatagaaa gaaatttctt catagacgtg
     2581 gtgatatatc atttgttgga cctgctaata gtaggtcaaa ggggagcact ccttgccccc
     2641 tgttcctggg tttatgcagt tttcttttta gagtttatat agggcaagtg gttctttttc
     2701 tctgaattac aggatggaaa aaggtcatat cctttgtcag gaaatataaa cttgaaagta
     2761 tgtagtcagc tcttgtaata ctcatattta tgattgtcct atatgaaaaa caacttcagt
     2821 taaaactata atgtgtgatt ctgtataaca aggtgatgtc tgtttcccag ggctcagacc
     2881 taatccagtt ataataaaat caattaaatg aaatattcta tagaatcgat ctatgccctt
     2941 gttaatctcc atccatatag gagtcacgtt ctttaagaca gatggtggta gttatttttg
     3001 tggcatggtt agatttgact ggttttgcag aagattacag ttatgtactg cataatgaca
     3061 tatacaatag tggtcccata aaattataat ggagcagaaa atctattgcc tcatgatgtt
     3121 ttagccgttt taatgtcata gcctagtgca ttactcacgt gtctgtggag atgctggtgt
     3181 aaacaaacct actacactgc cagttgtata aaagtacagc acattcagtt atgtacagta
     3241 tgtaatactg ataatgacaa taaatgacac cggtttgtgt atttactttt tataa
//
