LOCUS       NM_001497               4176 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 1 (B4GALT1), transcript
            variant 1, mRNA.
ACCESSION   NM_001497
VERSION     NM_001497.4
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 4176)
  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 4176)
  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 4176)
  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 4176)
  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 4176)
  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 4176)
  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 4176)
  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 4176)
  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 4176)
  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 4176)
  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.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 20, 2020 this sequence version replaced NM_001497.3.
            
            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. 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, SRR11853566.27524.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379731.5/ ENSP00000369055.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-579               AL161445.10        70404-70982         c
            580-815             AL161445.10        38835-39070         c
            816-1003            AL161445.10        24065-24252         c
            1004-1126           AL161445.10        19637-19759         c
            1127-1231           AL161445.10        17420-17524         c
            1232-4176           AL161445.10        14288-17232         c
FEATURES             Location/Qualifiers
     source          1..4176
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     gene            1..4176
                     /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..579
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1364
                     /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 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001488.2"
                     /db_xref="CCDS:CCDS6535.1"
                     /db_xref="GeneID:2683"
                     /db_xref="HGNC:HGNC:924"
                     /db_xref="MIM:137060"
                     /translation="MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAG
                     RDLSRLPQLVGVSTPLQGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSP
                     VVDSGPGPASNLTSVPVPHTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPN
                     VKMGGRYAPRDCVSPHKVAIIIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAG
                     DTIFNRAKLLNVGFQEALKDYDYTCFVFSDVDLIPMNDHNAYRCFSQPRHISVAMDKF
                     GFSLPYVQYFGGVSALSKQQFLTINGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAV
                     VGRCRMIRHSRDKKNEPNPQRFDRIAHTKETMLSDGLNSLTYQVLDVQRYPLYTQITV
                     DIGTPS"
     exon            580..815
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            816..1003
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1126
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1231
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..4176
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4136..4141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="hexamer: ATTAAA"
     regulatory      4154..4159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="hexamer: AATAAA"
     polyA_site      4155
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
     polyA_site      4176
                     /gene="B4GALT1"
                     /gene_synonym="B4GAL-T1; beta4Gal-T1; CDG2D; CLDLFIB;
                     GGTB2; GT1; GTB"
                     /note="major polyA site"
ORIGIN      
        1 gctcccaggt ctggctggct ggaggagtct cagctctcag ccgctcgccc gcccccgctc
       61 cgggccctcc cctagtcgcc gctgtggggc agcgcctggc gggcggcccg cgggcgggtc
      121 gcctcccctc ctgtagccca cacccttctt aaagcggcgg cgggaagatg aggcttcggg
      181 agccgctcct gagcggcagc gccgcgatgc caggcgcgtc cctacagcgg gcctgccgcc
      241 tgctcgtggc cgtctgcgct ctgcaccttg gcgtcaccct cgtttactac ctggctggcc
      301 gcgacctgag ccgcctgccc caactggtcg gagtctccac accgctgcag ggcggctcga
      361 acagtgccgc cgccatcggg cagtcctccg gggagctccg gaccggaggg gcccggccgc
      421 cgcctcctct aggcgcctcc tcccagccgc gcccgggtgg cgactccagc ccagtcgtgg
      481 attctggccc tggccccgct agcaacttga cctcggtccc agtgccccac accaccgcac
      541 tgtcgctgcc cgcctgccct gaggagtccc cgctgcttgt gggccccatg ctgattgagt
      601 ttaacatgcc tgtggacctg gagctcgtgg caaagcagaa cccaaatgtg aagatgggcg
      661 gccgctatgc ccccagggac tgcgtctctc ctcacaaggt ggccatcatc attccattcc
      721 gcaaccggca ggagcacctc aagtactggc tatattattt gcacccagtc ctgcagcgcc
      781 agcagctgga ctatggcatc tatgttatca accaggcggg agacactata ttcaatcgtg
      841 ctaagctcct caatgttggc tttcaagaag ccttgaagga ctatgactac acctgctttg
      901 tgtttagtga cgtggacctc attccaatga atgaccataa tgcgtacagg tgtttttcac
      961 agccacggca catttccgtt gcaatggata agtttggatt cagcctacct tatgttcagt
     1021 attttggagg tgtctctgct ctaagtaaac aacagtttct aaccatcaat ggatttccta
     1081 ataattattg gggctgggga ggagaagatg atgacatttt taacagatta gtttttagag
     1141 gcatgtctat atctcgccca aatgctgtgg tcgggaggtg tcgcatgatc cgccactcaa
     1201 gagacaagaa aaatgaaccc aatcctcaga ggtttgaccg aattgcacac acaaaggaga
     1261 caatgctctc tgatggtttg aactcactca cctaccaggt gctggatgta cagagatacc
     1321 cattgtatac ccaaatcaca gtggacatcg ggacaccgag ctagcgtttt ggtacacgga
     1381 taagagacct gaaattagcc agggacctct gctgtgtgtc tctgccaatc tgctgggctg
     1441 gtccctctca tttttaccag tctgagtgac aggtcccctt cgctcatcat tcagatggct
     1501 ttccagatga ccaggacgag tgggatattt tgcccccaac ttggctcggc atgtgaattc
     1561 ttagctctgc aaggtgttta tgcctttgcg ggtttcttga tgtgttcgca gtgtcacccc
     1621 agagtcagaa ctgtacacat cccaaaattt ggtggccgtg gaacacattc ccggtgatag
     1681 aattgctaaa ttgtcgtgaa ataggttaga atttttcttt aaattatggt tttcttattc
     1741 gtgaaaattc ggagagtgct gctaaaattg gattggtgtg atctttttgg tagttgtaat
     1801 ttaacagaaa aacacaaaat ttcaaccatt cttaatgtta cgtcctcccc ccaccccctt
     1861 ctttcagtgg tatgcaacca ctgcaatcac tgtgcatatg tcttttctta gcaaaaggat
     1921 tttaaaactt gagccctgga ccttttgtcc tatgtgtgtg gattccaggg caactctagc
     1981 atcagagcaa aagccttggg tttctcgcat tcagtggcct atctccagat tgtctgattt
     2041 ctgaatgtaa agttgttgtg ttttttttta aatagtagtt tgtagtattt taaagaaaga
     2101 acagatcgag ttctaattat gatctagctt gattttgtgt tgatccaaat ttgcatagct
     2161 gtttaatgtt aagtcatgac aatttatttt tcttggcatg ctatgtaaac ttgaatttcc
     2221 tatgtatttt tattgtggtg ttttaaatat ggggaggggt attgagcatt ttttagggag
     2281 aaaaataaat atatgctgta gtggccacaa ataggcctat gatttagctg gcaggccagg
     2341 ttttctcaag agcaaaatca ccctctggcc ccttggcagg taaggcctcc cggtcagcat
     2401 tatcctgcca gacctcgggg aggatacctg ggagacagaa gcctctgcac ctactgtgca
     2461 gaactctcca cttccccaac cctccccagg tgggcagggc ggagggagcc tcagcctcct
     2521 tagactgacc cctcaggccc ctaggctggg gggttgtaaa taacagcagt caggttgttt
     2581 accagccctt tgcacctccc caggcagagg gagcctctgt tctggtgggg gccacctccc
     2641 tcagaggctc tgctagccac actccgtggc ccaccctttg ttaccagttc ttcctccttc
     2701 ctcttttccc ctgcctttct cattccttcc ttcgtctccc tttttgttcc tttgcctctt
     2761 gcctgtcccc taaaacttga ctgtggcact cagggtcaaa cagactatcc attccccagc
     2821 atgaatgtgc cttttaatta gtgatctaga aagaagttca gccgaaccca caccccaact
     2881 ccctcccaag aacttcggtg cctaaagcct cctgttccac ctcaggtttt cacaggtgct
     2941 cccaccccag ttgaggctcc cacccacagg gctgtctgtc acaaacccac ctctgttggg
     3001 agctattgag ccacctggga tgagatgaca caaggcactc ctaccactga gcgcctttgc
     3061 caggtccagc ctgggctcag gttccaagac tcagctgcct aatcccaggg ttgagccttg
     3121 tgctcgtggc ggaccccaaa ccactgccct cctgggtacc agccctcagt gtggaggctg
     3181 agctggtgcc tggccccagt cttatctgtg cctttactgc tttgcgcatc tcagatgcta
     3241 acttggttct ttttccagaa gcctttgtat tggttaaaaa ttattttcca ttgcagaagc
     3301 agctggacta tgcaaaaagt atttctctgt cagttcccca ctctatacca aggatattat
     3361 taaaactaga aatgactgca ttgagaggga gttgtgggaa ataagaagaa tgaaagcctc
     3421 tctttctgtc cgcagatcct gacttttcca aagtgcctta aaagaaatca gacaaatgcc
     3481 ctgagtggta acttctgtgt tattttactc ttaaaaccaa actctacctt ttcttgttgt
     3541 tttttttttt tttttttttt tttttttggt taccttctca ttcatgtcaa gtatgtggtt
     3601 cattcttaga accaagggaa atactgctcc ccccatttgc tgacgtagtg ctctcatggg
     3661 ctcacctggg cccaaggcac agccagggca cagttaggcc tggatgtttg cctggtccgt
     3721 gagatgccgc gggtcctgtt tccttactgg ggatttcagg gctgggggtt cagggagcat
     3781 ttccttttcc tgggagttat gaccgcgaag ttgtcatgtg ccgtgccctt ttctgtttct
     3841 gtgtatccta ttgctggtga ctctgtgtga actggccttt gggaaagatc agagagggca
     3901 gaggtggcac aggacagtaa aggagatgct gtgctggcct tcagcctgga cagggtctct
     3961 gctgactgcc aggggcgggg gctctgcata gccaggatga cggctttcat gtcccagaga
     4021 cctgttgtgc tgtgtatttt gatttcctgt gtatgcaaat gtgtgtattt accattgtgt
     4081 agggggctgt gtctgatctt ggtgttcaaa acagaactgt atttttgcct ttaaaattaa
     4141 ataatataac gtgaataaat gaccctatct ttgtaa
//
