LOCUS       NM_006876               2007 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens beta-1,4-glucuronyltransferase 1 (B4GAT1), mRNA.
ACCESSION   NM_006876
VERSION     NM_006876.3
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 2007)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   2  (bases 1 to 2007)
  AUTHORS   Willer,T., Inamori,K., Venzke,D., Harvey,C., Morgensen,G., Hara,Y.,
            Beltran Valero de Bernabe,D., Yu,L., Wright,K.M. and Campbell,K.P.
  TITLE     The glucuronyltransferase B4GAT1 is required for initiation of
            LARGE-mediated alpha-dystroglycan functional glycosylation
  JOURNAL   Elife 3, e03941 (2014)
   PUBMED   25279699
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2007)
  AUTHORS   Praissman,J.L., Live,D.H., Wang,S., Ramiah,A., Chinoy,Z.S.,
            Boons,G.J., Moremen,K.W. and Wells,L.
  TITLE     B4GAT1 is the priming enzyme for the LARGE-dependent functional
            glycosylation of alpha-dystroglycan
  JOURNAL   Elife 3, e03943 (2014)
   PUBMED   25279697
  REMARK    GeneRIF: B4GAT1 is involved in the initiation of the
            LARGE-dependent repeating disaccharide that is necessary for
            extracellular matrix protein binding to O-mannosylated
            alpha-dystroglycan.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2007)
  AUTHORS   Shaheen,R., Faqeih,E., Ansari,S. and Alkuraya,F.S.
  TITLE     A truncating mutation in B3GNT1 causes severe Walker-Warburg
            syndrome
  JOURNAL   Neurogenetics 14 (3-4), 243-245 (2013)
   PUBMED   23877401
  REMARK    GeneRIF: report describes the first truncating mutation in B3GNT1
            and confirms that this gene, which plays a role in alphaDG
            glycosylation, is a bona fide disease gene in Walker-Warburg
            syndrome
REFERENCE   5  (bases 1 to 2007)
  AUTHORS   Buysse,K., Riemersma,M., Powell,G., van Reeuwijk,J., Chitayat,D.,
            Roscioli,T., Kamsteeg,E.J., van den Elzen,C., van Beusekom,E.,
            Blaser,S., Babul-Hirji,R., Halliday,W., Wright,G.J., Stemple,D.L.,
            Lin,Y.Y., Lefeber,D.J. and van Bokhoven,H.
  TITLE     Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1
            (B3GNT1) cause Walker-Warburg syndrome
  JOURNAL   Hum Mol Genet 22 (9), 1746-1754 (2013)
   PUBMED   23359570
  REMARK    GeneRIF: These functional studies identify an important role of
            B3GNT1 in the synthesis of the uncharacterized laminin-binding
            glycan of alpha-dystroglycan and implicate B3GNT1 as a novel
            causative gene for Walker-Warburg syndrome.
REFERENCE   6  (bases 1 to 2007)
  AUTHORS   Bao,X., Kobayashi,M., Hatakeyama,S., Angata,K., Gullberg,D.,
            Nakayama,J., Fukuda,M.N. and Fukuda,M.
  TITLE     Tumor suppressor function of laminin-binding alpha-dystroglycan
            requires a distinct beta3-N-acetylglucosaminyltransferase
  JOURNAL   Proc Natl Acad Sci U S A 106 (29), 12109-12114 (2009)
   PUBMED   19587235
  REMARK    GeneRIF: These results identify a previously undescribed role of
            carbohydrate-dependent cell-basement membrane interaction in tumor
            suppression and its control by beta3GnT1 and LARGE.
REFERENCE   7  (bases 1 to 2007)
  AUTHORS   Lee,P.L., Kohler,J.J. and Pfeffer,S.R.
  TITLE     Association of beta-1,3-N-acetylglucosaminyltransferase 1 and
            beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in
            coupled poly-N-acetyllactosamine synthesis
  JOURNAL   Glycobiology 19 (6), 655-664 (2009)
   PUBMED   19261593
  REMARK    GeneRIF: These results demonstrate that B3GNT1 and B4GALT1
            physically associate in vitro and in cultured cells, providing
            insight into possible mechanisms for regulation of polyLacNAc
            production.
REFERENCE   8  (bases 1 to 2007)
  AUTHORS   Sasaki,K., Kurata-Miura,K., Ujita,M., Angata,K., Nakagawa,S.,
            Sekine,S., Nishi,T. and Fukuda,M.
  TITLE     Expression cloning of cDNA encoding a human
            beta-1,3-N-acetylglucosaminyltransferase that is essential for
            poly-N-acetyllactosamine synthesis
  JOURNAL   Proc Natl Acad Sci U S A 94 (26), 14294-14299 (1997)
   PUBMED   9405606
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA169103.1 and AF029893.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006876.2.
            
            Summary: This gene encodes a member of the
            beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a
            type II transmembrane protein. It is essential for the synthesis of
            poly-N-acetyllactosamine, a determinant for the blood group i
            antigen. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK098389.1, SRR3476690.186016.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311181.5/ ENSP00000309096.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA169103.1         62-66
            6-2007              AF029893.1         1-2002
FEATURES             Location/Qualifiers
     source          1..2007
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2007
                     /gene="B4GAT1"
                     /gene_synonym="B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT;
                     iGNT; MDDGA13"
                     /note="beta-1,4-glucuronyltransferase 1"
                     /db_xref="GeneID:11041"
                     /db_xref="HGNC:HGNC:15685"
                     /db_xref="MIM:605517"
     exon            1..1140
                     /gene="B4GAT1"
                     /gene_synonym="B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT;
                     iGNT; MDDGA13"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..1332
                     /gene="B4GAT1"
                     /gene_synonym="B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT;
                     iGNT; MDDGA13"
                     /EC_number="2.4.1.149"
                     /note="i-beta-1,3-N-acetylglucosaminyltransferase;
                     UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase 1;
                     UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase 6;
                     N-acetyllactosaminide
                     beta-1,3-N-acetylglucosaminyltransferase;
                     beta-1,3-N-acetylglucosaminyltransferase bGnT-6;
                     poly-N-acetyllactosamine extension enzyme"
                     /codon_start=1
                     /product="beta-1,4-glucuronyltransferase 1"
                     /protein_id="NP_006867.1"
                     /db_xref="CCDS:CCDS8136.1"
                     /db_xref="GeneID:11041"
                     /db_xref="HGNC:HGNC:15685"
                     /db_xref="MIM:605517"
                     /translation="MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQ
                     YFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHAS
                     VDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP
                     SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLARE
                     GANYALVIDVDMVPSEGLWRGLREMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELV
                     QLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGK
                     VPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQH
                     NKILYRQFKQELKAKYPNSPRRC"
     exon            1141..2007
                     /gene="B4GAT1"
                     /gene_synonym="B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT;
                     iGNT; MDDGA13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1986..1991
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GAT1"
                     /gene_synonym="B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT;
                     iGNT; MDDGA13"
                     /note="hexamer: AATAAA"
     polyA_site      2007
                     /gene="B4GAT1"
                     /gene_synonym="B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT;
                     iGNT; MDDGA13"
                     /note="major polyA site"
ORIGIN      
        1 aggctgcggt aaatccgggc ttgcggccgc tggcgtagtc tgtggccggg tggtcgttgc
       61 tgcgcgcccc gagccccgag agccatgcag atgtcctacg ccatccggtg cgccttctac
      121 cagctgctgc tggccgcgct catgctggtg gcgatgctgc agctgctcta cctgtcgctg
      181 ctgtccggac tgcacgggca ggaggagcaa gaccaatatt ttgagttctt tcccccgtcc
      241 ccacggtccg tggaccaggt caaggcgcag ctccgcaccg cgctggcctc tggaggcgtc
      301 ctggacgcta gcggcgatta ccgcgtctac aggggcctgc tgaagaccac catggacccc
      361 aacgatgtga tcctggccac gcacgccagc gtggacaacc tgctgcacct gtcgggtctg
      421 ctggagcgct gggagggccc gctgtccgtg tcggtgttcg cggccaccaa ggaggaggcg
      481 cagctggcca cggtgctggc ctacgcgctg agcagccact gccccgacat gcgcgccagg
      541 gtcgccatgc acctcgtgtg cccctcgcgt tacgaggcag ccgtgcccga cccccgggag
      601 ccgggggagt ttgccctgct gcggtcctgc caggaggtct ttgacaagct agccagggtg
      661 gcccagcccg ggattaatta tgcgctgggc accaatgtct cctaccccaa taacctgctg
      721 aggaatctgg ctcgtgaggg ggccaactat gccctggtga tcgatgtgga catggtgccc
      781 agcgaggggc tgtggagagg cctgcgggaa atgctggatc agagcaacca gtggggaggc
      841 accgcgctgg tggtgcctgc cttcgaaatc cgaagagccc gccgcatgcc catgaacaaa
      901 aacgagctgg tgcagctcta ccaggttggc gaggtgcggc ccttctatta tgggttgtgc
      961 accccctgcc aggcacccac caactattcc cgctgggtca acctgccgga agagagcttg
     1021 ctgcggcccg cctacgtggt accttggcag gacccctggg agccattcta cgtggcagga
     1081 ggcaaggtgc ccaccttcga cgagcgcttt cggcagtacg gcttcaaccg aatcagccag
     1141 gcctgcgagc tgcatgtggc ggggtttgat tttgaggtcc tgaacgaagg tttcttggtt
     1201 cataagggct tcaaagaagc gttgaagttc catccccaaa aggaggctga aaatcagcac
     1261 aataagatcc tatatcgcca gttcaaacag gagttgaagg ccaagtaccc caactctccc
     1321 cgacgctgct gagcccttcc ctcccctaat ctgagaagtc agcctcttgg ctcctcaggc
     1381 caccatttag gcctgactgg ggtaagaaat gtcgctccac tttacagagg tagctgtggt
     1441 gttgaaacac tggacttgga tatggggtgc tgggatcgat tcctagcttt accactaact
     1501 agctgtgtgg ccttgagtaa atcccgttac ctctctgagc ctcggttacc ctgtctgtaa
     1561 aaagggaggt gagaatacct acctcacgga actgttggga ggctcagatg agatgctata
     1621 tgtgaaaaca ttctgtaagc ttcgtacaaa tgtgaagtat taatattatc gcagtattat
     1681 tgttgttatt attattgtta ttattaacaa tcttgggtgg gtagtaggag agcaaaaagt
     1741 atgaatggga tggagctaag aagtctgaat acttaatgaa atggactttt tggaaagaaa
     1801 tcagatgaag gcataaaatt tagttcttag ctcttgaaca gaagcctaaa attcctggtt
     1861 ctctcagggc ttcgccttca agggttctgg aggagggaag ggtctgcagg ttccatgggt
     1921 gacagcctga gatctgtccc ttcaacgggc tgggctgggt atgtgcctac cgatgacaat
     1981 gtgtaaataa atgcgtgttc acaccca
//
