LOCUS       NM_003778               2234 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 4 (B4GALT4), transcript
            variant 2, mRNA.
ACCESSION   NM_003778
VERSION     NM_003778.4
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 2234)
  AUTHORS   Dai,Z., Wang,K. and Gao,Y.
  TITLE     The critical role of B4GALT4 in promoting microtubule spindle
            assembly in HCC through the regulation of PLK1 and RHAMM expression
  JOURNAL   J Cell Physiol 237 (1), 617-636 (2022)
   PUBMED   34270095
  REMARK    GeneRIF: The critical role of B4GALT4 in promoting microtubule
            spindle assembly in HCC through the regulation of PLK1 and RHAMM
            expression.
REFERENCE   2  (bases 1 to 2234)
  AUTHORS   Shauchuk,A., Szulc,B., Maszczak-Seneczko,D., Wiertelak,W.,
            Skurska,E. and Olczak,M.
  TITLE     N-glycosylation of the human beta1,4-galactosyltransferase 4 is
            crucial for its activity and Golgi localization
  JOURNAL   Glycoconj J 37 (5), 577-588 (2020)
   PUBMED   32827291
  REMARK    GeneRIF: N-glycosylation of the human beta1,4-galactosyltransferase
            4 is crucial for its activity and Golgi localization.
REFERENCE   3  (bases 1 to 2234)
  AUTHORS   Sugiyama,A., Fukushima,N. and Sato,T.
  TITLE     Transcriptional Mechanism of the beta4-Galactosyltransferase 4 Gene
            in SW480 Human Colon Cancer Cell Line
  JOURNAL   Biol Pharm Bull 40 (5), 733-737 (2017)
   PUBMED   28228616
  REMARK    GeneRIF: expression of the beta4GalT4 gene is controlled by Sp1,
            and Sp1 plays a key role in the activation of the beta4GalT4 gene
            in colon cancer cells.
REFERENCE   4  (bases 1 to 2234)
  AUTHORS   Kitayama,K., Hayashida,Y., Nishida,K. and Akama,T.O.
  TITLE     Enzymes responsible for synthesis of corneal keratan sulfate
            glycosaminoglycans
  JOURNAL   J Biol Chem 282 (41), 30085-30096 (2007)
   PUBMED   17690104
REFERENCE   5  (bases 1 to 2234)
  AUTHORS   Guo,S., Sato,T., Shirane,K. and Furukawa,K.
  TITLE     Galactosylation of N-linked oligosaccharides by human
            beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed
            in Sf-9 cells
  JOURNAL   Glycobiology 11 (10), 813-820 (2001)
   PUBMED   11588157
REFERENCE   6  (bases 1 to 2234)
  AUTHORS   Suzuki,Y., Tsunoda,T., Sese,J., Taira,H., Mizushima-Sugano,J.,
            Hata,H., Ota,T., Isogai,T., Tanaka,T., Nakamura,Y., Suyama,A.,
            Sakaki,Y., Morishita,S., Okubo,K. and Sugano,S.
  TITLE     Identification and characterization of the potential promoter
            regions of 1031 kinds of human genes
  JOURNAL   Genome Res 11 (5), 677-684 (2001)
   PUBMED   11337467
REFERENCE   7  (bases 1 to 2234)
  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 2234)
  AUTHORS   Fan,Y., Yu,L., Zhang,Q., Jiang,Y., Dai,F., Chen,C., Tu,Q., Bi,A.,
            Xu,Y. and Zhao,S.
  TITLE     Cloning and characterization of a novel member of human
            beta-1,4-galactosyltransferase gene family
  JOURNAL   Sci China C Life Sci 42 (4), 337-345 (1999)
   PUBMED   18763123
REFERENCE   9  (bases 1 to 2234)
  AUTHORS   Schwientek,T., Almeida,R., Levery,S.B., Holmes,E.H., Bennett,E. and
            Clausen,H.
  TITLE     Cloning of a novel member of the
            UDP-galactose:beta-N-acetylglucosamine
            beta1,4-galactosyltransferase family, beta4Gal-T4, involved in
            glycosphingolipid biosynthesis
  JOURNAL   J Biol Chem 273 (45), 29331-29340 (1998)
   PUBMED   9792633
REFERENCE   10 (bases 1 to 2234)
  AUTHORS   Lo,N.W., Shaper,J.H., Pevsner,J. and Shaper,N.L.
  TITLE     The expanding beta 4-galactosyltransferase gene family: messages
            from the databanks
  JOURNAL   Glycobiology 8 (5), 517-526 (1998)
   PUBMED   9597550
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX647468.1, AF038662.1,
            AK123182.1 and AK001006.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003778.3.
            
            Summary: This gene is one of seven beta-1,4-galactosyltransferase
            (beta4GalT) genes. They encode type II membrane-bound glycoproteins
            that appear to have exclusive specificity for the donor substrate
            UDP-galactose; all transfer galactose in a beta1,4 linkage to
            similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a
            distinct function in the biosynthesis of different glycoconjugates
            and saccharide structures. As type II membrane proteins, they have
            an N-terminal hydrophobic signal sequence that directs the protein
            to the Golgi apparatus and which then remains uncleaved to function
            as a transmembrane anchor. By sequence similarity, the beta4GalTs
            form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and
            beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme
            encoded by this gene appears to mainly play a role in glycolipid
            biosynthesis. Two alternatively spliced transcript variants have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' UTR,
            as compared to variant 1. Both variants 1 and 2 encode the same
            protein.
            
            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 :: CR749555.1, SRR5189661.185202.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2152798
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393765.7/ ENSP00000377360.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-82                BX647468.1         1-82
            83-1433             AF038662.1         1-1351
            1434-1709           AK123182.1         1024-1299
            1710-2234           AK001006.1         1793-2317
FEATURES             Location/Qualifiers
     source          1..2234
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.32"
     gene            1..2234
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /note="beta-1,4-galactosyltransferase 4"
                     /db_xref="GeneID:8702"
                     /db_xref="HGNC:HGNC:927"
                     /db_xref="MIM:604015"
     exon            1..29
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            30..247
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            248..645
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     CDS             393..1427
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /EC_number="2.4.1.90"
                     /EC_number="2.4.1.275"
                     /note="beta-N-acetylglucosaminyl-glycolipid
                     beta-1,4-galactosyltransferase 4; UDP-Gal:betaGlcNAc beta
                     1,4- galactosyltransferase 4; beta-1,4-GalTase 4;
                     UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4;
                     UDP-galactose:beta-N-acetylglucosamine
                     beta-1,4-galactosyltransferase 4; nal synthase;
                     UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase,
                     polypeptide 4; N-acetyllactosamine synthase;
                     lactotriaosylceramide beta-1,4-galactosyltransferase"
                     /codon_start=1
                     /product="beta-1,4-galactosyltransferase 4"
                     /protein_id="NP_003769.1"
                     /db_xref="CCDS:CCDS2986.1"
                     /db_xref="GeneID:8702"
                     /db_xref="HGNC:HGNC:927"
                     /db_xref="MIM:604015"
                     /translation="MGFNLTFHLSYKFRLLLLLTLCLTVVGWATSNYFVGAIQEIPKA
                     KEFMANFHKTLILGKGKTLTNEASTKKVELDNCPSVSPYLRGQSKLIFKPDLTLEEVQ
                     AENPKVSRGRYRPQECKALQRVAILVPHRNREKHLMYLLEHLHPFLQRQQLDYGIYVI
                     HQAEGKKFNRAKLLNVGYLEALKEENWDCFIFHDVDLVPENDFNLYKCEEHPKHLVVG
                     RNSTGYRLRYSGYFGGVTALSREQFFKVNGFSNNYWGWGGEDDDLRLRVELQRMKISR
                     PLPEVGKYTMVFHTRDKGNEVNAERMKLLHQVSRVWRTDGLSSCSYKLVSVEHNPLYI
                     NITVDFWFGA"
     exon            646..878
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            879..1066
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1189
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1294
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..2234
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2189..2194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /note="hexamer: AATAAA"
     polyA_site      2234
                     /gene="B4GALT4"
                     /gene_synonym="B4Gal-T4; beta4Gal-T4"
                     /note="major polyA site"
ORIGIN      
        1 agtgctagct cgccgcggcc gcctccgggg accacctggc ttcatgtgtg gatttccacg
       61 gctcttgccc agaggcgggt acactgtgtt ccaatgtgcc acggaactca cgcagtggca
      121 ctttgtggct tcatgaagga agaggcaggc cacgcaacac ttcctcccca agccaaggag
      181 aagtatcact tttagaggca gaggagcgga aggcagtggg tgtgaccaaa agtgccattt
      241 gttaaagact gttggagcag aactactgag aaaaaccagg cattgtatct tcagttgtca
      301 tcaagttcgc aatcagattg gaaaagctca acttgaagct ttcttgcctg cagtgaagca
      361 gagagataga tattattcac gtaataaaaa acatgggctt caacctgact ttccaccttt
      421 cctacaaatt ccgattactg ttgctgttga ctttgtgcct gacagtggtt gggtgggcca
      481 ccagtaacta cttcgtgggt gccattcaag agattcctaa agcaaaggag ttcatggcta
      541 atttccataa gaccctcatt ttggggaagg gaaaaactct gactaatgaa gcatccacga
      601 agaaggtaga acttgacaac tgcccttctg tgtctcctta cctcagaggc cagagcaagc
      661 tcattttcaa accagatctc actttggaag aggtacaggc agaaaatccc aaagtgtcca
      721 gaggccggta tcgccctcag gaatgtaaag ctttacagag ggtcgccatc ctcgttcccc
      781 accggaacag agagaaacac ctgatgtacc tgctggaaca tctgcatccc ttcctgcaga
      841 ggcagcagct ggattatggc atctacgtca tccaccaggc tgaaggtaaa aagtttaatc
      901 gagccaaact cttgaatgtg ggctatctag aagccctcaa ggaagaaaat tgggactgct
      961 ttatattcca cgatgtggac ctggtacccg agaatgactt taacctttac aagtgtgagg
     1021 agcatcccaa gcatctggtg gttggcagga acagcactgg gtacaggtta cgttacagtg
     1081 gatattttgg gggtgttact gccctaagca gagagcagtt tttcaaggtg aatggattct
     1141 ctaacaacta ctggggatgg ggaggcgaag acgatgacct cagactcagg gttgagctcc
     1201 aaagaatgaa aatttcccgg cccctgcctg aagtgggtaa atatacaatg gtcttccaca
     1261 ctagagacaa aggcaatgag gtgaacgcag aacggatgaa gctcttacac caagtgtcac
     1321 gagtctggag aacagatggg ttgagtagtt gttcttataa attagtatct gtggaacaca
     1381 atcctttata tatcaacatc acagtggatt tctggtttgg tgcatgaccc tgggtctttt
     1441 ggtgatgttt ggaagaactg attctttgtt tgcaataatt ttggcctaga gacttcaaat
     1501 agtagcacac attaagaacc tgttacagct cattgttgag ctgaattttt cctttttgta
     1561 ttttcttagc agagctcctg gtgatgtaga gtataaaaca gttgtaacaa gacagctttc
     1621 ttagtcattt tgatcatgag ggttaaatat tgtaatatgg atacttgaag gactttatat
     1681 aaaaggatga ctcaaaggat aaaatgaacg ctatttgagg actctggttg aaggagattt
     1741 atttaaattt gaagtaatat attatgggat aaaaggccac aggaaataag actgctgaat
     1801 gtctgagaga accagagttg ttctcgtcca aggtagaaag gtacgaagat acaatactgt
     1861 tattcattta tcctgtacaa tcatctgtga agtggtggtg tcaggtgaga aggcgtccac
     1921 aaaagagggg agaaaaggcg acgaatcagg acacagtgaa cttgggaatg aagaggtagc
     1981 aggagggtgg agtgtcggct gcaaaggcag cagtagctga gctggttgca gctgctgata
     2041 gccttcaggg gaggacctgc ccaggtatgc cttccagtga tgcccaccag agaatacatt
     2101 ctctattagt ttttaaagag tttttgtaaa atgattttgt acaagtagga tatgaattag
     2161 cagtttacaa gtttacatat taactaataa taaatatgtc tatcaaatac ctctgtagta
     2221 aaatgtgaaa aagc
//
