LOCUS       NM_054025               3976 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens beta-1,3-glucuronyltransferase 1 (B3GAT1), transcript
            variant 2, mRNA.
ACCESSION   NM_054025
VERSION     NM_054025.3
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 3976)
  AUTHORS   Hours,C.M., Gil,S. and Gressens,P.
  TITLE     Molecular and Cellular Insights: A Focus on Glycans and the HNK1
            Epitope in Autism Spectrum Disorder
  JOURNAL   Int J Mol Sci 24 (20), 15139 (2023)
   PUBMED   37894820
  REMARK    GeneRIF: Molecular and Cellular Insights: A Focus on Glycans and
            the HNK1 Epitope in Autism Spectrum Disorder.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3976)
  AUTHORS   Trimarco,J.D., Nelson,S.L., Chaparian,R.R., Wells,A.I.,
            Murray,N.B., Azadi,P., Coyne,C.B. and Heaton,N.S.
  TITLE     Cellular glycan modification by B3GAT1 broadly restricts influenza
            virus infection
  JOURNAL   Nat Commun 13 (1), 6456 (2022)
   PUBMED   36309510
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3976)
  AUTHORS   Yeh,A.C., Varelias,A., Reddy,A., Barone,S.M., Olver,S.D.,
            Chilson,K., Onstad,L.E., Ensbey,K.S., Henden,A.S., Samson,L.,
            Jaeger,C.A., Bi,T., Dahlman,K.B., Kim,T.K., Zhang,P.,
            Degli-Esposti,M.A., Newell,E.W., Jagasia,M.H., Irish,J.M., Lee,S.J.
            and Hill,G.R.
  TITLE     CMV exposure drives long-term CD57+ CD4 memory T-cell inflation
            following allogeneic stem cell transplant
  JOURNAL   Blood 138 (26), 2874-2885 (2021)
   PUBMED   34115118
  REMARK    GeneRIF: CMV exposure drives long-term CD57+ CD4 memory T-cell
            inflation following allogeneic stem cell transplant.
REFERENCE   4  (bases 1 to 3976)
  AUTHORS   Na,H., Zdraljevic,S., Tanny,R.E., Walhout,A.J.M. and Andersen,E.C.
  TITLE     Natural variation in a glucuronosyltransferase modulates propionate
            sensitivity in a C. elegans propionic acidemia model
  JOURNAL   PLoS Genet 16 (8), e1008984 (2020)
   PUBMED   32857789
  REMARK    GeneRIF: Natural variation in a glucuronosyltransferase modulates
            propionate sensitivity in a C. elegans propionic acidemia model.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3976)
  AUTHORS   Elahi,M. and Rakhshan,V.
  TITLE     MED15, transforming growth factor beta 1 (TGF-beta1), FcgammaRIII
            (CD16), and HNK-1 (CD57) are prognostic biomarkers of oral squamous
            cell carcinoma
  JOURNAL   Sci Rep 10 (1), 8475 (2020)
   PUBMED   32439976
  REMARK    GeneRIF: MED15, transforming growth factor beta 1 (TGF-beta1),
            FcgammaRIII (CD16), and HNK-1 (CD57) are prognostic biomarkers of
            oral squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3976)
  AUTHORS   Ouzzine,M., Gulberti,S., Levoin,N., Netter,P., Magdalou,J. and
            Fournel-Gigleux,S.
  TITLE     The donor substrate specificity of the human beta
            1,3-glucuronosyltransferase I toward UDP-glucuronic acid is
            determined by two crucial histidine and arginine residues
  JOURNAL   J Biol Chem 277 (28), 25439-25445 (2002)
   PUBMED   11986319
  REMARK    GeneRIF: substrate specificity toward UDP-glucuronic acid
            determined by two crucial histidine and arginine residues
REFERENCE   7  (bases 1 to 3976)
  AUTHORS   Cebo,C., Durier,V., Lagant,P., Maes,E., Florea,D., Lefebvre,T.,
            Strecker,G., Vergoten,G. and Zanetta,J.P.
  TITLE     Function and molecular modeling of the interaction between human
            interleukin 6 and its HNK-1 oligosaccharide ligands
  JOURNAL   J Biol Chem 277 (14), 12246-12252 (2002)
   PUBMED   11788581
REFERENCE   8  (bases 1 to 3976)
  AUTHORS   Pedersen,L.C., Tsuchida,K., Kitagawa,H., Sugahara,K., Darden,T.A.
            and Negishi,M.
  TITLE     Heparan/chondroitin sulfate biosynthesis. Structure and mechanism
            of human glucuronyltransferase I
  JOURNAL   J Biol Chem 275 (44), 34580-34585 (2000)
   PUBMED   10946001
REFERENCE   9  (bases 1 to 3976)
  AUTHORS   Mitsumoto,Y., Oka,S., Sakuma,H., Inazawa,J. and Kawasaki,T.
  TITLE     Cloning and chromosomal mapping of human glucuronyltransferase
            involved in biosynthesis of the HNK-1 carbohydrate epitope
  JOURNAL   Genomics 65 (2), 166-173 (2000)
   PUBMED   10783264
REFERENCE   10 (bases 1 to 3976)
  AUTHORS   Tone,Y., Kitagawa,H., Imiya,K., Oka,S., Kawasaki,T. and Sugahara,K.
  TITLE     Characterization of recombinant human glucuronyltransferase I
            involved in the biosynthesis of the glycosaminoglycan-protein
            linkage region of proteoglycans
  JOURNAL   FEBS Lett 459 (3), 415-420 (1999)
   PUBMED   10526176
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP003971.2 and BC010466.1.
            
            On Nov 23, 2018 this sequence version replaced NM_054025.2.
            
            Summary: The protein encoded by this gene is a member of the
            glucuronyltransferase gene family. These enzymes exhibit strict
            acceptor specificity, recognizing nonreducing terminal sugars and
            their anomeric linkages. This gene product functions as the key
            enzyme in a glucuronyl transfer reaction during the biosynthesis of
            the carbohydrate epitope HNK-1 (human natural killer-1, also known
            as CD57 and LEU7). Alternate transcriptional splice variants have
            been characterized. [provided by RefSeq, Jul 2008].
            
            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 :: BC010466.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312527.9/ ENSP00000307875.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-324               AP003971.2         70826-71149         c
            325-3976            BC010466.1         1-3652
FEATURES             Location/Qualifiers
     source          1..3976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q25"
     gene            1..3976
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /note="beta-1,3-glucuronyltransferase 1"
                     /db_xref="GeneID:27087"
                     /db_xref="HGNC:HGNC:921"
                     /db_xref="MIM:151290"
     exon            1..436
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /inference="alignment:Splign:2.1.0"
     exon            437..829
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             718..1722
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /EC_number="2.4.1.135"
                     /note="isoform 1 is encoded by transcript variant 2; LEU7
                     antigen; galactosylgalactosylxylosylprotein
                     3-beta-glucuronosyltransferase 1; UDP-GlcUA:glycoprotein
                     beta-1,3-glucuronyltransferase; glucuronosyltransferase P"
                     /codon_start=1
                     /product="galactosylgalactosylxylosylprotein
                     3-beta-glucuronosyltransferase 1 isoform 1"
                     /protein_id="NP_473366.1"
                     /db_xref="CCDS:CCDS8500.1"
                     /db_xref="GeneID:27087"
                     /db_xref="HGNC:HGNC:921"
                     /db_xref="MIM:151290"
                     /translation="MPKRRDILAIVLIVLPWTLLITVWHQSTLAPLLAVHKDEGSDPR
                     RETPPGADPREYCTSDRDIVEVVRTEYVYTRPPPWSDTLPTIHVVTPTYSRPVQKAEL
                     TRMANTLLHVPNLHWLVVEDAPRRTPLTARLLRDTGLNYTHLHVETPRNYKLRGDARD
                     PRIPRGTMQRNLALRWLRETFPRNSSQPGVVYFADDDNTYSLELFEEMRSTRRVSVWP
                     VAFVGGLRYEAPRVNGAGKVVGWKTVFDPHRPFAIDMAGFAVNLRLILQRSQAYFKLR
                     GVKGGYQESSLLRELVTLNDLEPKAANCTKILVWHTRTEKPVLVNEGKKGFTDPSVEI
                     "
     exon            830..1338
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1635
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1736
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..3976
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3947..3952
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /note="hexamer: ATTAAA"
     polyA_site      3976
                     /gene="B3GAT1"
                     /gene_synonym="CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1;
                     NK1"
                     /note="major polyA site"
ORIGIN      
        1 agagccgcgg cggcaccggc gcatccgccg ccacctcggg gactctgcgc cggcccggtc
       61 ggctcggctc cggccgcgcg cccccctcgc ccctctcgcc cccgcgcccg ctccccgctc
      121 cccctccccg ctccccctcc ccgccccccg ccccccgcct ccctgcccgc gccctccctc
      181 ccgcgcgctc ccagccttcg gccgccgcct cgctgagccc agaacgagcc gggccggggc
      241 ggcggggccg ggcggggcgg gcgggcgcgc ggaccccgcg gctatgaagt ggcccccggg
      301 ggcccggagc ccgacagtcc ccggggaggg agccgcacgc ggcccagggc agcggtctag
      361 gggcgccggg gccggggcgt aggggccgtt gcccgcgatg gaccgcaccg gagacgctcc
      421 ggactcgtcg ccgcaggtgt ccacccccca gggttcctga cccctgcccc tggacagcga
      481 ccccttctca gactccagtt gggccggact ctccaaacct gcttccgcaa tgggtgggtt
      541 gtgagtgctg gtaagacctg ctagccaaca ttcagctgct ctgtcctctc catgcctggc
      601 cggcccggcc catgcctgtt cttttctccc ctgtgctgcc gccgcccgtg gccgcccctc
      661 tcctgaactt accgccactc aggtaatgag gagccgtggg tgcagccagc cttggagatg
      721 ccgaagagac gggacatcct agcgatcgtc ctcatcgtgc tgccctggac tctgctcatc
      781 actgtctggc accagagcac cctcgcaccc ctgctcgcgg tacataagga tgagggcagt
      841 gacccccgac gcgaaacgcc gcccggcgcc gaccccaggg agtactgcac gtctgaccgc
      901 gacatcgtgg aggtggtgcg caccgagtac gtgtacacgc ggcccccgcc atggtccgac
      961 acgctgccca ccatccacgt ggtgacgccc acctacagcc gcccggtgca gaaggccgag
     1021 ctgacgcgca tggccaacac gctgctgcac gtgcccaacc tccactggct ggtggtggag
     1081 gatgcgccgc gccggacgcc gctgaccgcg cgcctgctgc gcgacaccgg cctcaactac
     1141 acgcacctgc acgtggagac gccccgcaac tacaagctgc gcggagacgc ccgcgaccca
     1201 cgcatcccgc ggggcaccat gcagcgcaac ctggccctgc gctggctgcg cgagaccttc
     1261 ccgcgcaact ccagccagcc tggcgtggtc tacttcgccg acgacgacaa cacctacagc
     1321 ctggagctct tcgaagagat gcgcagcacc aggagggtgt ccgtgtggcc cgtcgccttc
     1381 gtgggtggcc tgcggtacga ggccccacgg gtgaacgggg cagggaaggt ggtcggctgg
     1441 aagacggtgt ttgaccccca ccggccattt gcaatagaca tggctggatt tgccgtcaac
     1501 ctgcggctca ttctgcagcg aagccaggcc tacttcaagc tgcgaggtgt gaagggaggc
     1561 taccaggaaa gcagcctcct tcgagaactt gtcaccctca acgacctgga gcccaaggca
     1621 gccaactgca ccaagatcct ggtgtggcac acacggacag agaagccagt gctggtgaat
     1681 gagggcaaga agggcttcac tgacccctcg gtggagatct gagcctcagg atgcaggagc
     1741 ctcctcctca gaccctgttc ttggccttcc atcctctccc cacggctgat ggtccctcca
     1801 aggccgactc ctaaggaatc accatcaccc tcctttctat tctgggggct tctgagagag
     1861 cccagcctga tgccagaaca aaggacagag aatttaagca cagaaatccc agacctgttg
     1921 ttctctccat ccagcgtgac cagggcccga gagacctgat ggccagggtg gggtgtccag
     1981 caccagccaa gctggtgctc cagcgcacct ccccagagct ccccgcactg acggggctgc
     2041 aggagcaggt gcagtgggcg cccacactgg ccctgcagtg atgcagggcg ggagggagat
     2101 aagaagaccc cgcagtcaag tggagcatgg ccctccctgg ctccctgtcc ctgggctcag
     2161 cacgaccaca caggacaccc agccagggaa ttctgaagac cagagagcag cccacgggca
     2221 tcacgagcgc tctgctcctc tcctgggccc ctgctcttcc cgagagctgc ccccaaatca
     2281 gacatacctc tgtggctctc ctctggttca cgtttacaga gcataaggct gtcttggatc
     2341 ccaacaggca cccagccctg catgggggga gcctgggcct aataggcacc ccctgtacct
     2401 caggctgtgg cgggagcaga gtccccccct ccggcccctc ttcctttacc ccttctcctc
     2461 cagcagtggc aaaggggtag gctctagagc cagcacaggt cactgcctga cctggactaa
     2521 gaaccccacg gccccactgt ccacacactg cctccccacc gcccacctcg gctgctaggc
     2581 ccctcgcctg gactggactg gggagggaaa gcgccttttc ctgcagctct tcagagccac
     2641 agacctcagg gtggagtgag cccatggtgg gcagtgggca aggcggtggg tggtgggcaa
     2701 ggtgggacct cctgcagcct ggaaagagga gggaggccaa ggccattccc taactccctc
     2761 ctgcccctgg tctgaggagg agggactctg gagtagcaga ggggctggga aagagggggc
     2821 aggggctgct gggacactga gcaggaggga ggcctgagca cactgctttg gaaattattc
     2881 taaacacaaa aaagggaaag aaaatgttat ttctccctaa gtcaggagca tgcagagcta
     2941 gcccacctca tgtccagctg tccactttcc atcctggaga aagaacagtg tgcctcaaac
     3001 tcctgccctc cccaggcctc tggggcccac tggaaagggc tctgaccccc tggcccagcc
     3061 gggctctcta gtggtgatcc ggctcattct cctgcaagtt ggaagcacaa ttttcccccc
     3121 aagtggagga aaaggaaagg gccccagcct actgaagagg tgtttatttt ttaactaaca
     3181 gcctcccacc ccattaagac tcaccaggag aggtctgagg gccattcaga acccactcct
     3241 gagtgggtgg gtgggtggga ctcagtccag agacctaaca ttcagaatat agcattggtt
     3301 gcctattttg agatggattt aatctcccac agtattcatg agaccatctg atggaatcag
     3361 atccctgagc caccttgcag gacgttttcc ccaacctctt acaccctgga tgtcactttg
     3421 gaaaccaagc ccttggaagc aagtggggtg gcatgggaga gaagggagga ggtgggcaca
     3481 ggtggtgagc ttatgtgtgg gcactctact gcctcacaga agccagccaa gtgccaaggt
     3541 cagcttggct ggtctgaggc caccttctta gccaaaaacc tagggttcat tttcaggact
     3601 ttgataatga acaacaaaat ggggacttct ttgggcagat gctaggtcag ttgttttcac
     3661 ctaatatcct cttttagctg catgtatatt tatttataat tataaccctg gtggactgca
     3721 gccttcatct ttattgggaa tgagtttgtt ataaatcaga aatgggtcca tgatgaccac
     3781 tgttttccaa acccagtctg ttccctgctc cctcgctggc aagccccacc acacaggagt
     3841 gaggccaggg gctaggagtt ctaagaacag aggctggggt gagggtggca cccaggcagc
     3901 tgcatctggt ctgttttaat ttaactgtat ttaatttgct ttcaaaatta aaagtcaaat
     3961 acagttttta acagtc
//
