LOCUS       NM_003782               1703 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens beta-1,3-galactosyltransferase 4 (B3GALT4), mRNA.
ACCESSION   NM_003782
VERSION     NM_003782.4
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 1703)
  AUTHORS   Verma,M. and Schneider,J.S.
  TITLE     siRNA-mediated knockdown of B3GALT4 decreases GM1 ganglioside
            expression and enhances vulnerability for neurodegeneration
  JOURNAL   Mol Cell Neurosci 95, 25-30 (2019)
   PUBMED   30611881
  REMARK    GeneRIF: B3GALT4 knockdown decreases GM1 ganglioside level and
            enhances vulnerability for neurodegeneration.
REFERENCE   2  (bases 1 to 1703)
  AUTHORS   Zhang,T., Wang,F., Wu,J.Y., Qiu,Z.C., Wang,Y., Liu,F., Ge,X.S.,
            Qi,X.W., Mao,Y. and Hua,D.
  TITLE     Clinical correlation of B7-H3 and B3GALT4 with the prognosis of
            colorectal cancer
  JOURNAL   World J Gastroenterol 24 (31), 3538-3546 (2018)
   PUBMED   30131660
  REMARK    GeneRIF: Colorectal cancer (CRC) patients expressing both high
            B7-H3 and high B3GALT4 contributed to a significant decrease in
            overall survival. The expression of B3GALT4 in CRC is positively
            correlated with B7-H3 expression in vitro. B7-H3/B3GLAT4 may be
            used as dual prognostic biomarkers for CRC.
REFERENCE   3  (bases 1 to 1703)
  AUTHORS   Madrid,A., Hogan,K.J., Papale,L.A., Clark,L.R., Asthana,S.,
            Johnson,S.C. and Alisch,R.S.
  TITLE     DNA Hypomethylation in Blood Links B3GALT4 and ZADH2 to Alzheimer's
            Disease
  JOURNAL   J Alzheimers Dis 66 (3), 927-934 (2018)
   PUBMED   30372681
  REMARK    GeneRIF: In patients with late-onset Alzheimer disease, a number of
            differentially methylated postitions were hypomethylated in B3GALT4
            compared with controls.
REFERENCE   4  (bases 1 to 1703)
  AUTHORS   Dong,L., Liu,Y., Colberg-Poley,A.M., Kaucic,K. and Ladisch,S.
  TITLE     Induction of GM1a/GD1b synthase triggers complex ganglioside
            expression and alters neuroblastoma cell behavior; a new tumor cell
            model of ganglioside function
  JOURNAL   Glycoconj J 28 (3-4), 137-147 (2011)
   PUBMED   21519903
  REMARK    GeneRIF: Induction of GM1a/GD1b synthase triggers complex
            ganglioside expression and alters neuroblastoma cell behavior; a
            new tumor cell model of ganglioside function
REFERENCE   5  (bases 1 to 1703)
  AUTHORS   Dong,Y., Ikeda,K., Hamamura,K., Zhang,Q., Kondo,Y., Matsumoto,Y.,
            Ohmi,Y., Yamauchi,Y., Furukawa,K., Taguchi,R. and Furukawa,K.
  TITLE     GM1 / GD1b / GA1 synthase expression results in the reduced cancer
            phenotypes with modulation of composition and raft-localization of
            gangliosides in a melanoma cell line
  JOURNAL   Cancer Sci 101 (9), 2039-2047 (2010)
   PUBMED   20594196
  REMARK    GeneRIF: Data showed that GM1/GD1b/GA1 synthase transfectant cells
            had definite reduction in cell growth and invasion.
REFERENCE   6  (bases 1 to 1703)
  AUTHORS   Willer,C.J., Sanna,S., Jackson,A.U., Scuteri,A., Bonnycastle,L.L.,
            Clarke,R., Heath,S.C., Timpson,N.J., Najjar,S.S., Stringham,H.M.,
            Strait,J., Duren,W.L., Maschio,A., Busonero,F., Mulas,A., Albai,G.,
            Swift,A.J., Morken,M.A., Narisu,N., Bennett,D., Parish,S., Shen,H.,
            Galan,P., Meneton,P., Hercberg,S., Zelenika,D., Chen,W.M., Li,Y.,
            Scott,L.J., Scheet,P.A., Sundvall,J., Watanabe,R.M., Nagaraja,R.,
            Ebrahim,S., Lawlor,D.A., Ben-Shlomo,Y., Davey-Smith,G.,
            Shuldiner,A.R., Collins,R., Bergman,R.N., Uda,M., Tuomilehto,J.,
            Cao,A., Collins,F.S., Lakatta,E., Lathrop,G.M., Boehnke,M.,
            Schlessinger,D., Mohlke,K.L. and Abecasis,G.R.
  TITLE     Newly identified loci that influence lipid concentrations and risk
            of coronary artery disease
  JOURNAL   Nat Genet 40 (2), 161-169 (2008)
   PUBMED   18193043
REFERENCE   7  (bases 1 to 1703)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (bases 1 to 1703)
  AUTHORS   Shiina,T., Kikkawa,E., Iwasaki,H., Kaneko,M., Narimatsu,H.,
            Sasaki,K., Bahram,S. and Inoko,H.
  TITLE     The beta-1,3-galactosyltransferase-4 (B3GALT4) gene is located in
            the centromeric segment of the human MHC class II region
  JOURNAL   Immunogenetics 51 (1), 75-78 (2000)
   PUBMED   10663566
REFERENCE   9  (bases 1 to 1703)
  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   10 (bases 1 to 1703)
  AUTHORS   Amado,M., Almeida,R., Carneiro,F., Levery,S.B., Holmes,E.H.,
            Nomoto,M., Hollingsworth,M.A., Hassan,H., Schwientek,T.,
            Nielsen,P.A., Bennett,E.P. and Clausen,H.
  TITLE     A family of human beta3-galactosyltransferases. Characterization of
            four members of a
            UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine
            beta-1,3-galactosyltransferase family
  JOURNAL   J Biol Chem 273 (21), 12770-12778 (1998)
   PUBMED   9582303
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL662820.6, AK075312.1,
            AB026730.1 and BU740293.1.
            
            On May 17, 2019 this sequence version replaced NM_003782.3.
            
            Summary: This gene is a member of the
            beta-1,3-galactosyltransferase (beta3GalT) gene family. This family
            encodes type II membrane-bound glycoproteins with diverse enzymatic
            functions using different donor substrates (UDP-galactose and
            UDP-N-acetylglucosamine) and different acceptor sugars
            (N-acetylglucosamine, galactose, N-acetylgalactosamine). The
            beta3GalT genes are distantly related to the Drosophila Brainiac
            gene and have the protein coding sequence contained in a single
            exon. The beta3GalT proteins also contain conserved sequences not
            found in the beta4GalT or alpha3GalT proteins. The carbohydrate
            chains synthesized by these enzymes are designated as type 1,
            whereas beta4GalT enzymes synthesize type 2 carbohydrate chains.
            The ratio of type 1:type 2 chains changes during embryogenesis. By
            sequence similarity, the beta3GalT genes fall into at least two
            groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3,
            beta3GalT5). This gene is oriented telomere to centromere in close
            proximity to the ribosomal protein S18 gene. The functionality of
            the encoded protein is limited to ganglioseries glycolipid
            biosynthesis. [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 is intronless :: BC032574.1, SRR3476690.1081162.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000451237.3/ ENSP00000390784.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AL662820.6         6127-6143
            18-73               AK075312.1         1-56
            74-1669             AB026730.1         28-1623
            1670-1703           BU740293.1         19-52               c
FEATURES             Location/Qualifiers
     source          1..1703
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1703
                     /gene="B3GALT4"
                     /gene_synonym="BETA3GALT4; GALT2; GALT4"
                     /note="beta-1,3-galactosyltransferase 4"
                     /db_xref="GeneID:8705"
                     /db_xref="HGNC:HGNC:919"
                     /db_xref="MIM:603095"
     exon            1..1703
                     /gene="B3GALT4"
                     /gene_synonym="BETA3GALT4; GALT2; GALT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             298..1434
                     /gene="B3GALT4"
                     /gene_synonym="BETA3GALT4; GALT2; GALT4"
                     /EC_number="2.4.1.62"
                     /note="beta-3-galactosyltransferase 4; gal-T2; b3Gal-T4;
                     beta-1,3-GalTase 4; ganglioside galactosyltransferase;
                     UDP-galactose:beta-N-acetyl-galactosamine-beta-1,
                     3-galactosyltransferase; UDP-Gal:betaGlcNAc beta
                     1,3-galactosyltransferase, polypeptide 4;
                     UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4"
                     /codon_start=1
                     /product="beta-1,3-galactosyltransferase 4 precursor"
                     /protein_id="NP_003773.1"
                     /db_xref="CCDS:CCDS34425.1"
                     /db_xref="GeneID:8705"
                     /db_xref="HGNC:HGNC:919"
                     /db_xref="MIM:603095"
                     /translation="MQLRLFRRLLLAALLLVIVWTLFGPSGLGEELLSLSLASLLPAP
                     ASPGPPLALPRLLIPNQEACSGPGAPPFLLILVCTAPENLNQRNAIRASWGGLREARG
                     LRVQTLFLLGEPNAQHPVWGSQGSDLASESAAQGDILQAAFQDSYRNLTLKTLSGLNW
                     AEKHCPMARYVLKTDDDVYVNVPELVSELVLRGGRWGQWERSTEPQREAEQEGGQVLH
                     SEEVPLLYLGRVHWRVNPSRTPGGRHRVSEEQWPHTWGPFPPYASGTGYVLSASAVQL
                     ILKVASRAPLLPLEDVFVGVSARRGGLAPTQCVKLAGATHYPLDRCCYGKFLLTSHRL
                     DPWKMQEAWKLVGGSDGERTAPFCSWFQGVLGILRCRAIAWLQS"
     regulatory      1684..1689
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALT4"
                     /gene_synonym="BETA3GALT4; GALT2; GALT4"
                     /note="hexamer: AATAAA"
     polyA_site      1703
                     /gene="B3GALT4"
                     /gene_synonym="BETA3GALT4; GALT2; GALT4"
                     /note="major polyA site"
ORIGIN      
        1 agaccggccg ccggggcgag gcgggggagg ggccgtgagt gccgcagtcg gccagccatg
       61 gagcggagct tgctggcggc gaggccgcgg cgacaaggta gccacccccg cagcatgcct
      121 cgaccgcggt ccgcagctgc accgcctctc cccgcccccc agggtgcgct ggtcccggtc
      181 gcgcgctcag acctccgcat cccgggcgtg gtcggttaag tccccggccg tgacccaggc
      241 ccggggagct agtctccgcc cttcgctctt acggatcccc tcggagtacg ccgcaccatg
      301 cagctcaggc tcttccggcg cctccttctc gccgctttgc tgctggtgat cgtctggacc
      361 ctcttcgggc cttcggggtt gggggaggag ctgctgagcc tctcactagc ctccctgctc
      421 ccagcccccg cctcaccggg gccgcccctg gccctgcccc gcctcttgat ccccaaccag
      481 gaagcttgca gtggtcccgg ggcccctccc ttcctgctca tcctggtgtg cacggctccg
      541 gagaacctga accagagaaa cgccattcgg gcttcgtggg gcgggctgcg cgaggcccgg
      601 gggctcaggg tacagacgct attcttgctg ggagagccga acgcacagca ccccgtgtgg
      661 ggttcccagg ggagtgacct ggcctcggag tcagcagccc agggggatat cttgcaggcc
      721 gccttccagg actcctaccg caacctcacc ctaaagaccc tcagcgggct gaactgggct
      781 gagaaacact gccccatggc ccgatacgtc ctcaagacgg acgatgatgt gtatgtcaac
      841 gtccctgaac tggtatcaga gctggtcttg cgagggggcc gttgggggca atgggagaga
      901 agcacggaac cccagagaga ggctgagcag gaaggaggcc aggttttgca cagcgaggaa
      961 gtgcctcttc tgtacttggg ccgggtgcac tggcgcgtga acccctctcg gacaccgggg
     1021 ggcaggcacc gcgtatcaga ggagcagtgg cctcacacct ggggcccctt tccaccctat
     1081 gcctcaggca cggggtatgt gctgtcagcg tctgctgtgc agctcattct caaggtggcc
     1141 agccgggcac cccttctccc attagaggat gtctttgtgg gggtaagtgc ccgacgagga
     1201 ggcctcgccc caacacagtg tgtcaagctg gctggtgcca cccactaccc gctagaccgg
     1261 tgctgctatg ggaaattcct gctgacgtcc cacaggctgg acccctggaa gatgcaggaa
     1321 gcctggaagc tggtgggtgg ctctgacggg gaaaggactg cgcccttttg ctcctggttc
     1381 cagggagtcc tgggcatcct gcggtgtcga gcaatagcct ggcttcagag ctgagagtgc
     1441 ctggggccac aggaaaggca ggaacaggac cttctctctc ccaggcccaa cgcaggggcc
     1501 ctcactggct gcagctgatc tgtttcctta taccagatcc tcagtctcac taaagacagc
     1561 gatatgggag acacccaggg gcctggcccg ccagcccaaa agatggtcat cgggaagaga
     1621 aaaagaaaaa aatgctgcag ttgttctctc aagctagggc agaagagggg tgtcaagctc
     1681 ctcaataaac ttgtctccac ttc
//
