LOCUS       NM_001378495            3999 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 1 (B4GALT1), transcript
            variant 2, mRNA.
ACCESSION   NM_001378495
VERSION     NM_001378495.1
KEYWORDS    RefSeq.
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 3999)
  AUTHORS   Zhao,Y., Nayak,S., Raidas,S., Guo,L., Della Gatta,G., Koppolu,S.,
            Halasz,G., Montasser,M.E., Shuldiner,A.R., Mao,Y. and Li,N.
  TITLE     In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic
            and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective
            Variant in B4GALT1
  JOURNAL   Mol Cell Proteomics 22 (8), 100595 (2023)
   PUBMED   37328064
  REMARK    GeneRIF: In-Depth Mass Spectrometry Analysis Reveals the Plasma
            Proteomic and N-Glycoproteomic Impact of an Amish-Enriched
            Cardioprotective Variant in B4GALT1.
REFERENCE   2  (bases 1 to 3999)
  AUTHORS   Cui,Y., Li,J., Zhang,P., Yin,D., Wang,Z., Dai,J., Wang,W., Zhang,E.
            and Guo,R.
  TITLE     B4GALT1 promotes immune escape by regulating the expression of
            PD-L1 at multiple levels in lung adenocarcinoma
  JOURNAL   J Exp Clin Cancer Res 42 (1), 146 (2023)
   PUBMED   37303063
  REMARK    GeneRIF: B4GALT1 promotes immune escape by regulating the
            expression of PD-L1 at multiple levels in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3999)
  AUTHORS   Ghasemi,H., Seghatoleslam,A., Fahmideh Kar,M.A., Mahbudi,L.,
            Fard,B.G. and Jamshidi,M.
  TITLE     Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53:
            Experimental and Molecular Modeling Study
  JOURNAL   Protein Pept Lett 30 (8), 668-678 (2023)
   PUBMED   37198983
  REMARK    GeneRIF: Analysis of the Interaction of UBE2Q1 with B4GALT1 and
            P53: Experimental and Molecular Modeling Study.
REFERENCE   4  (bases 1 to 3999)
  AUTHORS   Montasser,M.E., Van Hout,C.V., Miloscio,L., Howard,A.D.,
            Rosenberg,A., Callaway,M., Shen,B., Li,N., Locke,A.E., Verweij,N.,
            De,T., Ferreira,M.A., Lotta,L.A., Baras,A., Daly,T.J.,
            Hartford,S.A., Lin,W., Mao,Y., Ye,B., White,D., Gong,G.,
            Perry,J.A., Ryan,K.A., Fang,Q., Tzoneva,G., Pefanis,E., Hunt,C.,
            Tang,Y., Lee,L., Sztalryd-Woodle,C., Mitchell,B.D., Healy,M.,
            Streeten,E.A., Taylor,S.I., O'Connell,J.R., Economides,A.N., Della
            Gatta,G. and Shuldiner,A.R.
  CONSRTM   Regeneron Genetics Center Collaborationdouble dagger
  TITLE     Genetic and functional evidence links a missense variant in B4GALT1
            to lower LDL and fibrinogen
  JOURNAL   Science 374 (6572), 1221-1227 (2021)
   PUBMED   34855475
  REMARK    GeneRIF: Genetic and functional evidence links a missense variant
            in B4GALT1 to lower LDL and fibrinogen.
REFERENCE   5  (bases 1 to 3999)
  AUTHORS   Hathaway,H.J., Evans,S.C., Dubois,D.H., Foote,C.I., Elder,B.H. and
            Shur,B.D.
  TITLE     Mutational analysis of the cytoplasmic domain of
            beta1,4-galactosyltransferase I: influence of phosphorylation on
            cell surface expression
  JOURNAL   J Cell Sci 116 (Pt 21), 4319-4330 (2003)
   PUBMED   12966167
REFERENCE   6  (bases 1 to 3999)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
REFERENCE   7  (bases 1 to 3999)
  AUTHORS   Uejima,T., Uemura,M., Nozawa,S. and Narimatsu,H.
  TITLE     Complementary DNA cloning for galactosyltransferase associated with
            tumor and determination of antigenic epitopes recognized by
            specific monoclonal antibodies
  JOURNAL   Cancer Res 52 (22), 6158-6163 (1992)
   PUBMED   1384956
REFERENCE   8  (bases 1 to 3999)
  AUTHORS   Lopez,L.C., Youakim,A., Evans,S.C. and Shur,B.D.
  TITLE     Evidence for a molecular distinction between Golgi and cell surface
            forms of beta 1,4-galactosyltransferase
  JOURNAL   J Biol Chem 266 (24), 15984-15991 (1991)
   PUBMED   1714903
REFERENCE   9  (bases 1 to 3999)
  AUTHORS   Mengle-Gaw,L., McCoy-Haman,M.F. and Tiemeier,D.C.
  TITLE     Genomic structure and expression of human
            beta-1,4-galactosyltransferase
  JOURNAL   Biochem Biophys Res Commun 176 (3), 1269-1276 (1991)
   PUBMED   1903938
REFERENCE   10 (bases 1 to 3999)
  AUTHORS   Gerber,A.C., Kozdrowski,I., Wyss,S.R. and Berger,E.G.
  TITLE     The charge heterogeneity of soluble human galactosyltransferases
            isolated from milk, amniotic fluid and malignant ascites
  JOURNAL   Eur J Biochem 93 (3), 453-460 (1979)
   PUBMED   33805
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161445.10.
            
            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. This gene is
            unique among the beta4GalT genes because it encodes an enzyme that
            participates both in glycoconjugate and lactose biosynthesis. For
            the first activity, the enzyme adds galactose to
            N-acetylglucosamine residues that are either monosaccharides or the
            nonreducing ends of glycoprotein carbohydrate chains. The second
            activity is restricted to lactating mammary tissues where the
            enzyme forms a heterodimer with alpha-lactalbumin to catalyze
            UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic
            forms result from alternate transcription initiation sites and
            post-translational processing. Two transcripts, which differ only
            at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode
            the same protein. The longer transcript encodes the type II
            membrane-bound, trans-Golgi resident protein involved in
            glycoconjugate biosynthesis. The shorter transcript encodes a
            protein which is cleaved to form the soluble lactose synthase.
            [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 :: D29805.1, SRR18074969.17532.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-402               AL161445.10        70404-70805         c
            403-638             AL161445.10        38835-39070         c
            639-826             AL161445.10        24065-24252         c
            827-949             AL161445.10        19637-19759         c
            950-1054            AL161445.10        17420-17524         c
            1055-3999           AL161445.10        14288-17232         c
FEATURES             Location/Qualifiers
     source          1..3999
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     gene            1..3999
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="beta-1,4-galactosyltransferase 1"
                     /db_xref="GeneID:2683"
                     /db_xref="HGNC:HGNC:924"
                     /db_xref="MIM:137060"
     exon            1..402
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1187
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /EC_number="2.4.1.22"
                     /EC_number="2.4.1.90"
                     /EC_number="2.4.1.38"
                     /EC_number="2.4.1.275"
                     /note="isoform 2 is encoded by transcript variant 2;
                     glycoprotein-4-beta-galactosyltransferase 2;
                     beta-1,4-GalTase 1; UDP-Gal:betaGlcNAc beta 1,4-
                     galactosyltransferase, polypeptide 1; UDP-Gal:beta-GlcNAc
                     beta-1,4-galactosyltransferase 1;
                     UDP-galactose:beta-N-acetylglucosamine
                     beta-1,4-galactosyltransferase 1; nal synthase; lactose
                     synthase A protein; N-acetyllactosamine synthase;
                     beta-N-acetylglucosaminyl-glycolipid
                     beta-1,4-galactosyltransferase;
                     beta-N-acetylglucosaminylglycopeptide
                     beta-1,4-galactosyltransferase; neolactotriaosylceramide
                     beta-1,4-galactosyltransferase"
                     /codon_start=1
                     /product="beta-1,4-galactosyltransferase 1 isoform 2"
                     /protein_id="NP_001365424.1"
                     /db_xref="GeneID:2683"
                     /db_xref="HGNC:HGNC:924"
                     /db_xref="MIM:137060"
                     /translation="MPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVS
                     TPLQGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLT
                     SVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCV
                     SPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVG
                     FQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKFGFSLPYVQYFGGV
                     SALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHSRDK
                     KNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS"
     exon            403..638
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            639..826
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            827..949
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1054
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..3999
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3959..3964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="hexamer: ATTAAA"
     regulatory      3977..3982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="hexamer: AATAAA"
     polyA_site      3978
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
     polyA_site      3999
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="major polyA site"
ORIGIN      
        1 gggagccgct cctgagcggc agcgccgcga tgccaggcgc gtccctacag cgggcctgcc
       61 gcctgctcgt ggccgtctgc gctctgcacc ttggcgtcac cctcgtttac tacctggctg
      121 gccgcgacct gagccgcctg ccccaactgg tcggagtctc cacaccgctg cagggcggct
      181 cgaacagtgc cgccgccatc gggcagtcct ccggggagct ccggaccgga ggggcccggc
      241 cgccgcctcc tctaggcgcc tcctcccagc cgcgcccggg tggcgactcc agcccagtcg
      301 tggattctgg ccctggcccc gctagcaact tgacctcggt cccagtgccc cacaccaccg
      361 cactgtcgct gcccgcctgc cctgaggagt ccccgctgct tgtgggcccc atgctgattg
      421 agtttaacat gcctgtggac ctggagctcg tggcaaagca gaacccaaat gtgaagatgg
      481 gcggccgcta tgcccccagg gactgcgtct ctcctcacaa ggtggccatc atcattccat
      541 tccgcaaccg gcaggagcac ctcaagtact ggctatatta tttgcaccca gtcctgcagc
      601 gccagcagct ggactatggc atctatgtta tcaaccaggc gggagacact atattcaatc
      661 gtgctaagct cctcaatgtt ggctttcaag aagccttgaa ggactatgac tacacctgct
      721 ttgtgtttag tgacgtggac ctcattccaa tgaatgacca taatgcgtac aggtgttttt
      781 cacagccacg gcacatttcc gttgcaatgg ataagtttgg attcagccta ccttatgttc
      841 agtattttgg aggtgtctct gctctaagta aacaacagtt tctaaccatc aatggatttc
      901 ctaataatta ttggggctgg ggaggagaag atgatgacat ttttaacaga ttagttttta
      961 gaggcatgtc tatatctcgc ccaaatgctg tggtcgggag gtgtcgcatg atccgccact
     1021 caagagacaa gaaaaatgaa cccaatcctc agaggtttga ccgaattgca cacacaaagg
     1081 agacaatgct ctctgatggt ttgaactcac tcacctacca ggtgctggat gtacagagat
     1141 acccattgta tacccaaatc acagtggaca tcgggacacc gagctagcgt tttggtacac
     1201 ggataagaga cctgaaatta gccagggacc tctgctgtgt gtctctgcca atctgctggg
     1261 ctggtccctc tcatttttac cagtctgagt gacaggtccc cttcgctcat cattcagatg
     1321 gctttccaga tgaccaggac gagtgggata ttttgccccc aacttggctc ggcatgtgaa
     1381 ttcttagctc tgcaaggtgt ttatgccttt gcgggtttct tgatgtgttc gcagtgtcac
     1441 cccagagtca gaactgtaca catcccaaaa tttggtggcc gtggaacaca ttcccggtga
     1501 tagaattgct aaattgtcgt gaaataggtt agaatttttc tttaaattat ggttttctta
     1561 ttcgtgaaaa ttcggagagt gctgctaaaa ttggattggt gtgatctttt tggtagttgt
     1621 aatttaacag aaaaacacaa aatttcaacc attcttaatg ttacgtcctc cccccacccc
     1681 cttctttcag tggtatgcaa ccactgcaat cactgtgcat atgtcttttc ttagcaaaag
     1741 gattttaaaa cttgagccct ggaccttttg tcctatgtgt gtggattcca gggcaactct
     1801 agcatcagag caaaagcctt gggtttctcg cattcagtgg cctatctcca gattgtctga
     1861 tttctgaatg taaagttgtt gtgttttttt ttaaatagta gtttgtagta ttttaaagaa
     1921 agaacagatc gagttctaat tatgatctag cttgattttg tgttgatcca aatttgcata
     1981 gctgtttaat gttaagtcat gacaatttat ttttcttggc atgctatgta aacttgaatt
     2041 tcctatgtat ttttattgtg gtgttttaaa tatggggagg ggtattgagc attttttagg
     2101 gagaaaaata aatatatgct gtagtggcca caaataggcc tatgatttag ctggcaggcc
     2161 aggttttctc aagagcaaaa tcaccctctg gccccttggc aggtaaggcc tcccggtcag
     2221 cattatcctg ccagacctcg gggaggatac ctgggagaca gaagcctctg cacctactgt
     2281 gcagaactct ccacttcccc aaccctcccc aggtgggcag ggcggaggga gcctcagcct
     2341 ccttagactg acccctcagg cccctaggct ggggggttgt aaataacagc agtcaggttg
     2401 tttaccagcc ctttgcacct ccccaggcag agggagcctc tgttctggtg ggggccacct
     2461 ccctcagagg ctctgctagc cacactccgt ggcccaccct ttgttaccag ttcttcctcc
     2521 ttcctctttt cccctgcctt tctcattcct tccttcgtct ccctttttgt tcctttgcct
     2581 cttgcctgtc ccctaaaact tgactgtggc actcagggtc aaacagacta tccattcccc
     2641 agcatgaatg tgccttttaa ttagtgatct agaaagaagt tcagccgaac ccacacccca
     2701 actccctccc aagaacttcg gtgcctaaag cctcctgttc cacctcaggt tttcacaggt
     2761 gctcccaccc cagttgaggc tcccacccac agggctgtct gtcacaaacc cacctctgtt
     2821 gggagctatt gagccacctg ggatgagatg acacaaggca ctcctaccac tgagcgcctt
     2881 tgccaggtcc agcctgggct caggttccaa gactcagctg cctaatccca gggttgagcc
     2941 ttgtgctcgt ggcggacccc aaaccactgc cctcctgggt accagccctc agtgtggagg
     3001 ctgagctggt gcctggcccc agtcttatct gtgcctttac tgctttgcgc atctcagatg
     3061 ctaacttggt tctttttcca gaagcctttg tattggttaa aaattatttt ccattgcaga
     3121 agcagctgga ctatgcaaaa agtatttctc tgtcagttcc ccactctata ccaaggatat
     3181 tattaaaact agaaatgact gcattgagag ggagttgtgg gaaataagaa gaatgaaagc
     3241 ctctctttct gtccgcagat cctgactttt ccaaagtgcc ttaaaagaaa tcagacaaat
     3301 gccctgagtg gtaacttctg tgttatttta ctcttaaaac caaactctac cttttcttgt
     3361 tgtttttttt tttttttttt tttttttttt ggttaccttc tcattcatgt caagtatgtg
     3421 gttcattctt agaaccaagg gaaatactgc tccccccatt tgctgacgta gtgctctcat
     3481 gggctcacct gggcccaagg cacagccagg gcacagttag gcctggatgt ttgcctggtc
     3541 cgtgagatgc cgcgggtcct gtttccttac tggggatttc agggctgggg gttcagggag
     3601 catttccttt tcctgggagt tatgaccgcg aagttgtcat gtgccgtgcc cttttctgtt
     3661 tctgtgtatc ctattgctgg tgactctgtg tgaactggcc tttgggaaag atcagagagg
     3721 gcagaggtgg cacaggacag taaaggagat gctgtgctgg ccttcagcct ggacagggtc
     3781 tctgctgact gccaggggcg ggggctctgc atagccagga tgacggcttt catgtcccag
     3841 agacctgttg tgctgtgtat tttgatttcc tgtgtatgca aatgtgtgta tttaccattg
     3901 tgtagggggc tgtgtctgat cttggtgttc aaaacagaac tgtatttttg cctttaaaat
     3961 taaataatat aacgtgaata aatgacccta tctttgtaa
//
