LOCUS       NM_001378109            4716 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 6 (B4GALT6), transcript
            variant 3, mRNA.
ACCESSION   NM_001378109 XM_017026089
VERSION     NM_001378109.1
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 4716)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 4716)
  AUTHORS   Yamaji,T. and Hanada,K.
  TITLE     Establishment of HeLa cell mutants deficient in
            sphingolipid-related genes using TALENs
  JOURNAL   PLoS One 9 (2), e88124 (2014)
   PUBMED   24498430
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4716)
  AUTHORS   Landers,J.E., Melki,J., Meininger,V., Glass,J.D., van den
            Berg,L.H., van Es,M.A., Sapp,P.C., van Vught,P.W.,
            McKenna-Yasek,D.M., Blauw,H.M., Cho,T.J., Polak,M., Shi,L.,
            Wills,A.M., Broom,W.J., Ticozzi,N., Silani,V., Ozoguz,A.,
            Rodriguez-Leyva,I., Veldink,J.H., Ivinson,A.J., Saris,C.G.,
            Hosler,B.A., Barnes-Nessa,A., Couture,N., Wokke,J.H.,
            Kwiatkowski,T.J. Jr., Ophoff,R.A., Cronin,S., Hardiman,O.,
            Diekstra,F.P., Leigh,P.N., Shaw,C.E., Simpson,C.L., Hansen,V.K.,
            Powell,J.F., Corcia,P., Salachas,F., Heath,S., Galan,P.,
            Georges,F., Horvitz,H.R., Lathrop,M., Purcell,S., Al-Chalabi,A. and
            Brown,R.H. Jr.
  TITLE     Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3)
            gene increases survival in sporadic amyotrophic lateral sclerosis
  JOURNAL   Proc Natl Acad Sci U S A 106 (22), 9004-9009 (2009)
   PUBMED   19451621
REFERENCE   4  (bases 1 to 4716)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   5  (bases 1 to 4716)
  AUTHORS   Fan,Y., Yu,L., Tu,Q., Gong,R., Jiang,Y., Zhang,Q., Dai,F., Chen,C.
            and Zhao,S.
  TITLE     Molecular cloning, genomic organization, and mapping of beta
            4GalT-VIb, a brain abundant member of beta 4-galactosyltransferase
            gene family, to human chromosome 18q12.1
  JOURNAL   DNA Seq 13 (1), 1-8 (2002)
   PUBMED   12180132
  REMARK    GeneRIF: genomic organization and mapping of beta 4GalT-VIb to
            human chromosome 18q12.1
REFERENCE   6  (bases 1 to 4716)
  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   7  (bases 1 to 4716)
  AUTHORS   Takizawa,M., Nomura,T., Wakisaka,E., Yoshizuka,N., Aoki,J.,
            Arai,H., Inoue,K., Hattori,M. and Matsuo,N.
  TITLE     cDNA cloning and expression of human lactosylceramide synthase
  JOURNAL   Biochim Biophys Acta 1438 (2), 301-304 (1999)
   PUBMED   10320813
REFERENCE   8  (bases 1 to 4716)
  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 AC017100.4.
            
            On Jan 28, 2020 this sequence version replaced XM_017026089.2.
            
            Summary: This gene is one of seven beta-1,4-galactosyltransferase
            (beta4GalT) genes in human. 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. This gene produces
            multiple protein isoforms - some of which are predicted to lack the
            N-terminal hydrophobic signal sequence and transmembrane domain. By
            sequence similarity, the beta4GalTs form four groups: beta4GalT1
            and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and
            beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this
            gene is a lactosylceramide synthase important for glycolipid
            biosynthesis. [provided by RefSeq, Jan 2020].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.1891150.1,
                                           SRR1660809.179970.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-314               AC017100.4         49485-49798
            315-431             AC017100.4         69156-69272
            432-545             AC017100.4         77439-77552
            546-670             AC017100.4         90049-90173
            671-787             AC017100.4         96768-96884
            788-975             AC017100.4         104382-104569
            976-1098            AC017100.4         108407-108529
            1099-1200           AC017100.4         109144-109245
            1201-4716           AC017100.4         109767-113282
FEATURES             Location/Qualifiers
     source          1..4716
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4716
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /note="beta-1,4-galactosyltransferase 6"
                     /db_xref="GeneID:9331"
                     /db_xref="HGNC:HGNC:929"
                     /db_xref="MIM:604017"
     exon            1..314
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            315..431
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     CDS             332..1348
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /EC_number="2.4.1.274"
                     /note="isoform 3 is encoded by transcript variant 3;
                     UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase;
                     beta4GalT-VI; beta-1,4-GalTase 6; UDP-Gal:beta-GlcNAc
                     beta-1,4-galactosyltransferase 6;
                     UDP-galactose:beta-N-acetylglucosamine
                     beta-1,4-galactosyltransferase 6; UDP-Gal:betaGlcNAc beta
                     1,4- galactosyltransferase, polypeptide 6; lacCer
                     synthase; lactosylceramide synthase"
                     /codon_start=1
                     /product="beta-1,4-galactosyltransferase 6 isoform 3"
                     /protein_id="NP_001365038.1"
                     /db_xref="GeneID:9331"
                     /db_xref="HGNC:HGNC:929"
                     /db_xref="MIM:604017"
                     /translation="MVQARGIMLRENVKTIGHMIRLYTNKNSTLNGTDYPEGNNSSDY
                     LVQTTTYLPENFTYSPYLPCPEKLPYMRGFLNVNVSEVSFDEIHQLFSKDLDIEPGGH
                     WRPKDCKPRWKVAVLIPFRNRHEHLPIFFLHLIPMLQKQRLEFAFYVIEQTGTQPFNR
                     AMLFNVGFKEAMKDSVWDCVIFHDVDHLPENDRNYYGCGEMPRHFAAKLDKYMYILPY
                     KEFFGGVSGLTVEQFRKINGFPNAFWGWGGEDDDLWNRVHYAGYNVTRPEGDLGKYKS
                     IPHHHRGEVQFLGRYKLLRYSKERQYIDGLNNLIYRPKILVDRLYTNISVNLMPELAP
                     IEDY"
     exon            432..545
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            546..670
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            671..787
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            788..975
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1098
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1200
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..4716
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4699..4704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /note="hexamer: AATATA"
     polyA_site      4716
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /note="major polyA site"
ORIGIN      
        1 gacacccgtc cgtttgccta ctgaagcaag atggggctga ggcgctcaag ggcctattgg
       61 ctgcccagaa gcctttgcag cgccgcctga atacagcgag gatgacccag ggttcacctt
      121 cagcgttgaa ggcaagtcct ggtataaggg acgcacatag gtccgcgcca catcctgaca
      181 ctgtttccac aggaagtgcg ggataggagg ggggattcat taatccaggt cggaaataca
      241 ccttgttcct cgaggatttt ggaaggaaat tccacccgcg aagtcccctt ttggagatgc
      301 ccttttcctt tcagccaaca catatctctt tatggtacaa gctcgaggta taatgttgag
      361 agaaaatgtg aaaacaatag gtcatatgat caggctgtac acaaataaaa acagtacgct
      421 caacggtaca gattatcccg aaggcaataa ttcaagtgat tatcttgttc aaacaacaac
      481 gtatctcccg gaaaacttca catactcacc atacctcccc tgtccagaaa agctgcctta
      541 tatgcgagga ttcctcaatg tcaatgtaag cgaagtcagt tttgatgaaa ttcatcaact
      601 cttctccaag gatttagata ttgagccagg gggtcattgg aggccaaaag actgtaaacc
      661 cagatggaag gtggcagttc tcattccttt ccgtaatcgc catgaacatc ttccaatttt
      721 tttcttacat ctgattccaa tgctccagaa gcagcggctg gaatttgcgt tttatgtcat
      781 tgaacagact ggcacacaac cttttaaccg tgcgatgctt ttcaatgtgg gcttcaaaga
      841 ggccatgaaa gacagtgtct gggactgtgt aatcttccac gatgtggatc atctacctga
      901 aaatgaccgg aactattacg gatgtggaga aatgccacgt cattttgctg caaagctgga
      961 taaatacatg tatattcttc catataaaga attttttggt ggtgtaagtg ggctgacagt
     1021 ggaacaattt agaaagatca atggttttcc taatgccttc tggggatggg gaggagaaga
     1081 tgatgacctt tggaacagag ttcactatgc tggatataat gtaaccagac cagagggaga
     1141 cttaggaaaa tacaagtcaa ttcctcatca ccatagaggt gaagtccagt ttttaggacg
     1201 gtataaatta ctaaggtatt ccaaggagcg tcagtacatc gatggactga acaatttaat
     1261 atataggcca aaaatactgg ttgataggtt gtatacaaac atatctgtaa acctcatgcc
     1321 agagttagct ccaatcgaag actattaaaa gaagtggctg tcgtggcaag gtagaccaca
     1381 atgctggatc ataaacttgg agcgcgctct tagtggaggt cagtgattgg ctgtgtcaca
     1441 gtgccctttt ctctgagaag agccagcagt ccacagtgtt tacagagtgg gactatatac
     1501 agtcaccctt ctctcacccg tcctccctgc tctgagacac acccctgtgg cgagcaccgc
     1561 agaaacggga agccactact taagatcgga agttaagaga gctccctccg aagagaaaat
     1621 ttttatacta aaatctataa tttaattcaa gagaatgctt ttatttccgt ttaaacatat
     1681 tttgtatata tgtgatataa attaatgtgt gcaaattgtt taaaaattag atgtgttgca
     1741 gttttgcatg taatcggtta tacctttatt ggacttttat agacattttt tatttgcatg
     1801 aaaaaaactc actaaattta catcactaaa caaaggttaa cccttgtgtg aaatgaagga
     1861 actgtcaata attgacagcc aactaataca gtaaactgtt atactagttt tgagctttag
     1921 acctcagcct tttgtgtgga agaagtcaca gctttcttag gctttaaagg aaaagaagga
     1981 aggacttaaa tagcttttct tcctaccggg attacctatg tttttccttg cttgcaatct
     2041 catctgattt tgctagaaat cacaaccata ttgtttatgc atattgcatg agtattacca
     2101 agaaaaatct taaaagttgt gatgtgacat gatataaagg atctctttat gttaaatgtc
     2161 tttccatgta cctctggtgt gtcagggatt ttgtgcctca aaaaatgttt ccaaggttgt
     2221 gtgtttatac tgtgtatttt ttttaaattc acggtgaaca gcacttttat tatttccagt
     2281 tcagaagagc caaaaaaaag tatcttcatt taaaaagaaa tcaagtcagt ttttttaaaa
     2341 gaatgatcta tggaagaaaa cccaatagta cttataatat acaaatgaat tatactatta
     2401 gataagaatt aaatattcta tttttataaa gataaatact tagtagataa aaacaaattt
     2461 taagtttagt tttcagacat agaatttcac ttttggaggg gacccttgaa tgttagtttc
     2521 attcaaacta tattttgttt ttttcacttt taagagatta tatctctggt gttaattact
     2581 aaaattttct ttctaaaagt ataatttaat agaattatct taaaatacat gatcagtatt
     2641 cagtgcgctg atattataat gtcttctata tgtagtatct aaaagcataa tttaatagca
     2701 ttgtcttaaa atacgtgatg agttatttgg tgcactgatg ccataatgtc ttctatatgt
     2761 aatatcttac atgtttgcat gagtgtcagg gctttgtcca gttatcttca tatgactgtt
     2821 ctctgaaaaa aggtcttact acctgatatc aagtacatat cttaattttg gatgaatttt
     2881 tccacagtaa agccgaacag tattcttttt tgaaaattag caattataaa gattgtttaa
     2941 aatatcttga tattttcaca aattttaaac aaaaaattaa atatctataa agtgaatgtt
     3001 caacaacaat gatgagcaat agaaatctat atatgagaaa cgtttggata atatttgcct
     3061 caaggattgt ttacctaaaa cagaactatg gttatttatc tcagattgta agttttattt
     3121 tgaagtgtca tttttatggc aatattgata acacaaatga ccacaaacta aatcataaaa
     3181 taattgaatc cttacacttt gagaaaatgg atagcttctg tgttatgata ccaaacaaaa
     3241 tattttcata tttatttctt agaactattt ccaaaatatt tatatttcag tttttttatg
     3301 gtactcgaaa aatcaaacct tctgaaaatt atgatatttg tacttcattt gtgtattagt
     3361 tcattttctg tttctattac atagttttta aagtcaatga aagagattga gaatgttaac
     3421 atttgttgat caatgtggag ctgtccacat tcggtatctt ttcattttta tatatatttt
     3481 acagtttcaa gaaaacttag tactactagt atctgcctta ttttcttaag tctgatgtta
     3541 atttttgttt caggagtgag atataaacat tttgcttttt ttcagttttg aaatatagtt
     3601 tgtcatcctg tgaaaaccac ctcgtttgct ttttgtttgt ttgttttgct tttttagtgt
     3661 agacctaaaa ttatttttgc ctataaacag tgaacttaat atgtttctgt gagagtgaca
     3721 gagctgtgcc cgtttatctt cattgtatta attattacat aaagattaac aaatacattg
     3781 caaatgcaaa ttataggatg tttggaggat ttattaatga gcatgtattg attgcctatt
     3841 ccatatccag tgcaatgcta ggtatgtcta tggaaggagt attattactt catttctaaa
     3901 caaatgaagt caagcaaatt gagatctttc tgaaattatg aagacatctt ctgataactt
     3961 atctgttgta tttcctagtc tcaaagtcaa gaaacccgta tatgtggacc tagggctaat
     4021 aggaggtccc tatggcacta actgggaaaa ttacatggtg cttttcaact acagaaagaa
     4081 gtaatgacta atgggcctgt ctgtagagaa gaaaaggaga agagtacaca tttgctggaa
     4141 ctatatataa ttcacagtgg agatagttaa ttctttgcta aaactagggt tttatgagta
     4201 ttttttaaat ctacatttaa gtttttgttt ttgtgaaaag ttattcagta agaaaacttt
     4261 ataatattaa gtagatacag ttatgtatta aaaatttcct tatataccct tttgccagcc
     4321 aagatactga tattttaaaa caaaatggaa aaatgtccaa tacaatattc tctttctgga
     4381 ggcttcctac aagtgaaagc agattttgtc attttatttg gcctttgctt gtctttgata
     4441 tatttcttta tgtgtttttc aaatacatac tgttgtagat ttattgtctt gtatttgcaa
     4501 gtatgccggt tgagagaact aaaatggtta tagtattgtt tatcagaaag aggaagtgta
     4561 cttaagatta ttttatttat ttagatgaaa ggcttctaca taaatgcact gaaataaatg
     4621 ctagtaattt cttgtatccc acttcttttt ttgcttctca tggaaatgtt tgtacttttt
     4681 tatcattgtc ttttatgaaa tataatgttc taaaga
//
