LOCUS       NM_030765               2891 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens UDP-GlcNAc:betaGal
            beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), transcript
            variant 1, mRNA.
ACCESSION   NM_030765
VERSION     NM_030765.4
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 2891)
  AUTHORS   Kottgen,A., Albrecht,E., Teumer,A., Vitart,V., Krumsiek,J.,
            Hundertmark,C., Pistis,G., Ruggiero,D., O'Seaghdha,C.M., Haller,T.,
            Yang,Q., Tanaka,T., Johnson,A.D., Kutalik,Z., Smith,A.V., Shi,J.,
            Struchalin,M., Middelberg,R.P., Brown,M.J., Gaffo,A.L., Pirastu,N.,
            Li,G., Hayward,C., Zemunik,T., Huffman,J., Yengo,L., Zhao,J.H.,
            Demirkan,A., Feitosa,M.F., Liu,X., Malerba,G., Lopez,L.M., van der
            Harst,P., Li,X., Kleber,M.E., Hicks,A.A., Nolte,I.M., Johansson,A.,
            Murgia,F., Wild,S.H., Bakker,S.J., Peden,J.F., Dehghan,A.,
            Steri,M., Tenesa,A., Lagou,V., Salo,P., Mangino,M., Rose,L.M.,
            Lehtimaki,T., Woodward,O.M., Okada,Y., Tin,A., Muller,C.,
            Oldmeadow,C., Putku,M., Czamara,D., Kraft,P., Frogheri,L.,
            Thun,G.A., Grotevendt,A., Gislason,G.K., Harris,T.B., Launer,L.J.,
            McArdle,P., Shuldiner,A.R., Boerwinkle,E., Coresh,J., Schmidt,H.,
            Schallert,M., Martin,N.G., Montgomery,G.W., Kubo,M., Nakamura,Y.,
            Tanaka,T., Munroe,P.B., Samani,N.J., Jacobs,D.R. Jr., Liu,K.,
            D'Adamo,P., Ulivi,S., Rotter,J.I., Psaty,B.M., Vollenweider,P.,
            Waeber,G., Campbell,S., Devuyst,O., Navarro,P., Kolcic,I.,
            Hastie,N., Balkau,B., Froguel,P., Esko,T., Salumets,A., Khaw,K.T.,
            Langenberg,C., Wareham,N.J., Isaacs,A., Kraja,A., Zhang,Q.,
            Wild,P.S., Scott,R.J., Holliday,E.G., Org,E., Viigimaa,M.,
            Bandinelli,S., Metter,J.E., Lupo,A., Trabetti,E., Sorice,R.,
            Doring,A., Lattka,E., Strauch,K., Theis,F., Waldenberger,M.,
            Wichmann,H.E., Davies,G., Gow,A.J., Bruinenberg,M., Stolk,R.P.,
            Kooner,J.S., Zhang,W., Winkelmann,B.R., Boehm,B.O., Lucae,S.,
            Penninx,B.W., Smit,J.H., Curhan,G., Mudgal,P., Plenge,R.M.,
            Portas,L., Persico,I., Kirin,M., Wilson,J.F., Mateo Leach,I., van
            Gilst,W.H., Goel,A., Ongen,H., Hofman,A., Rivadeneira,F.,
            Uitterlinden,A.G., Imboden,M., von Eckardstein,A., Cucca,F.,
            Nagaraja,R., Piras,M.G., Nauck,M., Schurmann,C., Budde,K.,
            Ernst,F., Farrington,S.M., Theodoratou,E., Prokopenko,I.,
            Stumvoll,M., Jula,A., Perola,M., Salomaa,V., Shin,S.Y.,
            Spector,T.D., Sala,C., Ridker,P.M., Kahonen,M., Viikari,J.,
            Hengstenberg,C., Nelson,C.P., Meschia,J.F., Nalls,M.A., Sharma,P.,
            Singleton,A.B., Kamatani,N., Zeller,T., Burnier,M., Attia,J.,
            Laan,M., Klopp,N., Hillege,H.L., Kloiber,S., Choi,H., Pirastu,M.,
            Tore,S., Probst-Hensch,N.M., Volzke,H., Gudnason,V., Parsa,A.,
            Schmidt,R., Whitfield,J.B., Fornage,M., Gasparini,P.,
            Siscovick,D.S., Polasek,O., Campbell,H., Rudan,I., Bouatia-Naji,N.,
            Metspalu,A., Loos,R.J., van Duijn,C.M., Borecki,I.B., Ferrucci,L.,
            Gambaro,G., Deary,I.J., Wolffenbuttel,B.H., Chambers,J.C., Marz,W.,
            Pramstaller,P.P., Snieder,H., Gyllensten,U., Wright,A.F., Navis,G.,
            Watkins,H., Witteman,J.C., Sanna,S., Schipf,S., Dunlop,M.G.,
            Tonjes,A., Ripatti,S., Soranzo,N., Toniolo,D., Chasman,D.I.,
            Raitakari,O., Kao,W.H., Ciullo,M., Fox,C.S., Caulfield,M.,
            Bochud,M. and Gieger,C.
  CONSRTM   LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium;
            ICBP Consortium; MAGIC Consortium
  TITLE     Genome-wide association analyses identify 18 new loci associated
            with serum urate concentrations
  JOURNAL   Nat Genet 45 (2), 145-154 (2013)
   PUBMED   23263486
REFERENCE   2  (bases 1 to 2891)
  AUTHORS   Shiraishi,N., Natsume,A., Togayachi,A., Endo,T., Akashima,T.,
            Yamada,Y., Imai,N., Nakagawa,S., Koizumi,S., Sekine,S.,
            Narimatsu,H. and Sasaki,K.
  TITLE     Identification and characterization of three novel beta
            1,3-N-acetylglucosaminyltransferases structurally related to the
            beta 1,3-galactosyltransferase family
  JOURNAL   J Biol Chem 276 (5), 3498-3507 (2001)
   PUBMED   11042166
REFERENCE   3  (bases 1 to 2891)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048338.29.
            
            On Nov 23, 2018 this sequence version replaced NM_030765.3.
            
            Summary: This gene encodes a member of the
            beta-1,3-N-acetylglucosaminyltransferase protein family. The
            encoded enzyme is involved in the biosynthesis of
            poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as
            a substrate. It is a type II transmembrane protein. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.153308.1, AY358940.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324189.5/ ENSP00000319636.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                AC048338.29        126731-126823       c
            94-256              AC048338.29        125848-126010       c
            257-2891            AC048338.29        121580-124214       c
FEATURES             Location/Qualifiers
     source          1..2891
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..2891
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /note="UDP-GlcNAc:betaGal
                     beta-1,3-N-acetylglucosaminyltransferase 4"
                     /db_xref="GeneID:79369"
                     /db_xref="HGNC:HGNC:15683"
                     /db_xref="MIM:605864"
     exon            1..93
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            94..256
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..1327
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /EC_number="2.4.1.149"
                     /note="isoform 1 is encoded by transcript variant 1;
                     beta-1,3-N-acetylglucosaminyltransferase bGn-T4; BGnT-4;
                     beta-1,3-Gn-T4; beta-1,3-N-acetylglucosaminyltransferase
                     4; N-acetyllactosaminide
                     beta-1,3-N-acetylglucosaminyltransferase 4"
                     /codon_start=1
                     /product="N-acetyllactosaminide
                     beta-1,3-N-acetylglucosaminyltransferase 4 isoform 1"
                     /protein_id="NP_110392.1"
                     /db_xref="CCDS:CCDS9227.1"
                     /db_xref="GeneID:79369"
                     /db_xref="HGNC:HGNC:15683"
                     /db_xref="MIM:605864"
                     /translation="MLPPQPSAAHQGRGGRSGLLPKGPAMLCRLCWLVSYSLAVLLLG
                     CLLFLRKAAKPAGDPTAHQPFWAPPTPRHSRCPPNHTVSSASLSLPSRHRLFLTYRHC
                     RNFSILLEPSGCSKDTFLLLAIKSQPGHVERRAAIRSTWGRVGGWARGRQLKLVFLLG
                     VAGSAPPAQLLAYESREFDDILQWDFTEDFFNLTLKELHLQRWVVAACPQAHFMLKGD
                     DDVFVHVPNVLEFLDGWDPAQDLLVGDVIRQALPNRNTKVKYFIPPSMYRATHYPPYA
                     GGGGYVMSRATVRRLQAIMEDAELFPIDDVFVGMCLRRLGLSPMHHAGFKTFGIRRPL
                     DPLDPCLYRGLLLVHRLSPLEMWTMWALVTDEGLKCAAGPIPQR"
     exon            257..2891
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1457..1462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /note="hexamer: ATTAAA"
     polyA_site      1476
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /note="major polyA site"
     regulatory      2866..2871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
                     /note="hexamer: AATAAA"
     polyA_site      2891
                     /gene="B3GNT4"
                     /gene_synonym="B3GN-T4; beta3Gn-T4"
ORIGIN      
        1 actcccgagc cccgagagct ccgcgcacct gggcgccatc cgccctggct ccgctgcacg
       61 agctccacgc ccgtaccccg gcgtcacgct cagcccgcgg tgctcgcaca cctgagactc
      121 atctcgcttc gaccccgccg ccgccgccgc ccggcatcct gagcacggag acagtctcca
      181 gctgccgttc atgcttcctc cccagccttc cgcagcccac cagggaaggg gcggtaggag
      241 tggcctttta ccaaagggac cggcgatgct ctgcaggctg tgctggctgg tctcgtacag
      301 cttggctgtg ctgttgctcg gctgcctgct cttcctgagg aaggcggcca agcccgcagg
      361 agaccccacg gcccaccagc ctttctgggc tcccccaaca ccccgtcaca gccggtgtcc
      421 acccaaccac acagtgtcta gcgcctctct gtccctgcct agccgtcacc gtctcttctt
      481 gacctatcgt cactgccgaa atttctctat cttgctggag ccttcaggct gttccaagga
      541 taccttcttg ctcctggcca tcaagtcaca gcctggtcac gtggagcgac gtgcggctat
      601 ccgcagcacg tggggcaggg tggggggatg ggctaggggc cggcagctga agctggtgtt
      661 cctcctaggg gtggcaggat ccgctccccc agcccagctg ctggcctatg agagtaggga
      721 gtttgatgac atcctccagt gggacttcac tgaggacttc ttcaacctga cgctcaagga
      781 gctgcacctg cagcgctggg tggtggctgc ctgcccccag gcccatttca tgctaaaggg
      841 agatgacgat gtctttgtcc acgtccccaa cgtgttagag ttcctggatg gctgggaccc
      901 agcccaggac ctcctggtgg gagatgtcat ccgccaagcc ctgcccaaca ggaacactaa
      961 ggtcaaatac ttcatcccac cctcaatgta cagggccacc cactacccac cctatgctgg
     1021 tgggggagga tatgtcatgt ccagagccac agtgcggcgc ctccaggcta tcatggaaga
     1081 tgctgaactc ttccccattg atgatgtctt tgtgggtatg tgcctgaggc ggctggggct
     1141 gagccctatg caccatgctg gcttcaagac atttggaatc cggcggcccc tggacccctt
     1201 agacccctgc ctgtataggg ggctcctgct ggttcaccgc ctcagccccc tcgagatgtg
     1261 gaccatgtgg gcactggtga cagatgaggg gctcaagtgt gcagctggcc ccatacccca
     1321 gcgctgaagg gtgggttggg caacagcctg agagtggact cagtgttgat tctctatcgt
     1381 gatgcgaaat tgatgcctgc tgctctacag aaaatgccaa cttggttttt taactcctct
     1441 caccctgtta gctctgatta aaaacactgc aacccagcta acttgtccag catatgttga
     1501 atgggagcca aagtgtagca aatgctgcca ggaacctgtc ggggcattcc gggcgctgcc
     1561 tggggcgctg cagtctggga cctcaaggaa ggaggctgca taggacccca ggagagacgc
     1621 attttctctt tcagatgcaa acaaaatctt acactcttct cctttggata caatagagaa
     1681 acggaaagaa aggaaggaac aagaggcctg tgttaagtcc tgttgatgtt aagtcctgtt
     1741 gagagcacca ggtaaacact ctgcacccct tctcttagta gtaataggtt tttcactcct
     1801 tggcctcagc tgtcctcaca ggacagtggg ggcagatcag agaacacatc agaaatacat
     1861 acaaagaaat cgtacaaact ggacaggttc ccctccccct gccacaactg gcatcccaac
     1921 agagggaaca agtactaaat catttttgac gacgtaaata agactgaaaa caggttaaac
     1981 agttgctgaa cttaagggca tgacaaaaag gactcctctc tctgacccag gtaggcaaaa
     2041 tgctttgggt gtgaggtaaa aaaaatgggt aagagcagct gtacagagtg gggtgaaatg
     2101 ttaaacaggg tgcagtgccc aagggctaag aaccaggtcc agcgcaagcc tgagaccaca
     2161 ggaggcactc acagctcaca aaggcgtctc gcctgattgg ccagggcagg atctgccgcc
     2221 tcttctcggt gcacagacag tcatgccaac cctgggcagg gtggcatctg cccctgcttt
     2281 ccccactgag tggggagaca gggcagtgtg ctcaggccct caatcctcac gcaggtaggc
     2341 ctcctgctcc gactcagccc gctcctcccc ttcctcctgt gttttctgac ggagctcttc
     2401 tatctgtgct tctgccagct tggtttctgc tttccgggag agctggtgca cctcttccac
     2461 ctgcagtttc accagctgaa tgtgattcct ggcggttata gaggcctgat ctgcgcctgc
     2521 caaaagatgg gacaatcggg ttgagcagcc gtgcagggcg cggaaggctc atgtggacgt
     2581 tggcctgggg gtgctgtggc tgtcatctga acccctcttg gggtcacttt ccttgacctc
     2641 cctgtcttct ctctctgcaa agaaacttcc acctctatgt tcaggtctgg atttaactga
     2701 cactctgtca aaaacagcat ttttcttcag ctgtcagcgg ccaacatcac aattattaaa
     2761 tgcaactctc acaatcatct ttatagctac agagctttta gtacagacct ttgattaatt
     2821 tttttaacta cacatcttcc atttcttttt gacaaagaga tcatgaataa aattgtcaaa
     2881 gatccctttc a
//
