LOCUS       NM_004775               4672 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 6 (B4GALT6), transcript
            variant 1, mRNA.
ACCESSION   NM_004775
VERSION     NM_004775.5
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 4672)
  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 4672)
  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 4672)
  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 4672)
  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 4672)
  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 4672)
  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 4672)
  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 4672)
  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 NM_004775.4.
            
            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 :: AF097159.1, SRR14038194.3900572.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306851.10/ ENSP00000306459.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-270               AC017100.4         50947-51216
            271-387             AC017100.4         69156-69272
            388-501             AC017100.4         77439-77552
            502-626             AC017100.4         90049-90173
            627-743             AC017100.4         96768-96884
            744-931             AC017100.4         104382-104569
            932-1054            AC017100.4         108407-108529
            1055-1156           AC017100.4         109144-109245
            1157-4672           AC017100.4         109767-113282
FEATURES             Location/Qualifiers
     source          1..4672
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.1"
     gene            1..4672
                     /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..270
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1304
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /EC_number="2.4.1.274"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_004766.2"
                     /db_xref="CCDS:CCDS11900.1"
                     /db_xref="GeneID:9331"
                     /db_xref="HGNC:HGNC:929"
                     /db_xref="MIM:604017"
                     /translation="MSVLRRMMRVSNRSLLAFIFFFSLSSSCLYFIYVAPGIANTYLF
                     MVQARGIMLRENVKTIGHMIRLYTNKNSTLNGTDYPEGNNSSDYLVQTTTYLPENFTY
                     SPYLPCPEKLPYMRGFLNVNVSEVSFDEIHQLFSKDLDIEPGGHWRPKDCKPRWKVAV
                     LIPFRNRHEHLPIFFLHLIPMLQKQRLEFAFYVIEQTGTQPFNRAMLFNVGFKEAMKD
                     SVWDCVIFHDVDHLPENDRNYYGCGEMPRHFAAKLDKYMYILPYKEFFGGVSGLTVEQ
                     FRKINGFPNAFWGWGGEDDDLWNRVHYAGYNVTRPEGDLGKYKSIPHHHRGEVQFLGR
                     YKLLRYSKERQYIDGLNNLIYRPKILVDRLYTNISVNLMPELAPIEDY"
     exon            271..387
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            388..501
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            502..626
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            627..743
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            744..931
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1054
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1156
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..4672
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4655..4660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /note="hexamer: AATATA"
     polyA_site      4672
                     /gene="B4GALT6"
                     /gene_synonym="B4Gal-T6; beta4Gal-T6"
                     /note="major polyA site"
ORIGIN      
        1 ctcttttccg ctcgggccct ctccccagag cctccccgcg cggaccccgc tgcagtctcg
       61 gggttctcag cacatttatg gaagtttagg gcctggacag tggccccgag tccggcctga
      121 gagcgcagcc tgggctgctg gcagggaaga ggaagatgtc tgtgctcagg cggatgatgc
      181 gggtttccaa tcgctctctc ctcgccttca tcttcttctt ctccctctct tcgtcctgtc
      241 tgtacttcat ctatgtggcc ccaggcatcg ccaacacata tctctttatg gtacaagctc
      301 gaggtataat gttgagagaa aatgtgaaaa caataggtca tatgatcagg ctgtacacaa
      361 ataaaaacag tacgctcaac ggtacagatt atcccgaagg caataattca agtgattatc
      421 ttgttcaaac aacaacgtat ctcccggaaa acttcacata ctcaccatac ctcccctgtc
      481 cagaaaagct gccttatatg cgaggattcc tcaatgtcaa tgtaagcgaa gtcagttttg
      541 atgaaattca tcaactcttc tccaaggatt tagatattga gccagggggt cattggaggc
      601 caaaagactg taaacccaga tggaaggtgg cagttctcat tcctttccgt aatcgccatg
      661 aacatcttcc aatttttttc ttacatctga ttccaatgct ccagaagcag cggctggaat
      721 ttgcgtttta tgtcattgaa cagactggca cacaaccttt taaccgtgcg atgcttttca
      781 atgtgggctt caaagaggcc atgaaagaca gtgtctggga ctgtgtaatc ttccacgatg
      841 tggatcatct acctgaaaat gaccggaact attacggatg tggagaaatg ccacgtcatt
      901 ttgctgcaaa gctggataaa tacatgtata ttcttccata taaagaattt tttggtggtg
      961 taagtgggct gacagtggaa caatttagaa agatcaatgg ttttcctaat gccttctggg
     1021 gatggggagg agaagatgat gacctttgga acagagttca ctatgctgga tataatgtaa
     1081 ccagaccaga gggagactta ggaaaataca agtcaattcc tcatcaccat agaggtgaag
     1141 tccagttttt aggacggtat aaattactaa ggtattccaa ggagcgtcag tacatcgatg
     1201 gactgaacaa tttaatatat aggccaaaaa tactggttga taggttgtat acaaacatat
     1261 ctgtaaacct catgccagag ttagctccaa tcgaagacta ttaaaagaag tggctgtcgt
     1321 ggcaaggtag accacaatgc tggatcataa acttggagcg cgctcttagt ggaggtcagt
     1381 gattggctgt gtcacagtgc ccttttctct gagaagagcc agcagtccac agtgtttaca
     1441 gagtgggact atatacagtc acccttctct cacccgtcct ccctgctctg agacacaccc
     1501 ctgtggcgag caccgcagaa acgggaagcc actacttaag atcggaagtt aagagagctc
     1561 cctccgaaga gaaaattttt atactaaaat ctataattta attcaagaga atgcttttat
     1621 ttccgtttaa acatattttg tatatatgtg atataaatta atgtgtgcaa attgtttaaa
     1681 aattagatgt gttgcagttt tgcatgtaat cggttatacc tttattggac ttttatagac
     1741 attttttatt tgcatgaaaa aaactcacta aatttacatc actaaacaaa ggttaaccct
     1801 tgtgtgaaat gaaggaactg tcaataattg acagccaact aatacagtaa actgttatac
     1861 tagttttgag ctttagacct cagccttttg tgtggaagaa gtcacagctt tcttaggctt
     1921 taaaggaaaa gaaggaagga cttaaatagc ttttcttcct accgggatta cctatgtttt
     1981 tccttgcttg caatctcatc tgattttgct agaaatcaca accatattgt ttatgcatat
     2041 tgcatgagta ttaccaagaa aaatcttaaa agttgtgatg tgacatgata taaaggatct
     2101 ctttatgtta aatgtctttc catgtacctc tggtgtgtca gggattttgt gcctcaaaaa
     2161 atgtttccaa ggttgtgtgt ttatactgtg tatttttttt aaattcacgg tgaacagcac
     2221 ttttattatt tccagttcag aagagccaaa aaaaagtatc ttcatttaaa aagaaatcaa
     2281 gtcagttttt ttaaaagaat gatctatgga agaaaaccca atagtactta taatatacaa
     2341 atgaattata ctattagata agaattaaat attctatttt tataaagata aatacttagt
     2401 agataaaaac aaattttaag tttagttttc agacatagaa tttcactttt ggaggggacc
     2461 cttgaatgtt agtttcattc aaactatatt ttgttttttt cacttttaag agattatatc
     2521 tctggtgtta attactaaaa ttttctttct aaaagtataa tttaatagaa ttatcttaaa
     2581 atacatgatc agtattcagt gcgctgatat tataatgtct tctatatgta gtatctaaaa
     2641 gcataattta atagcattgt cttaaaatac gtgatgagtt atttggtgca ctgatgccat
     2701 aatgtcttct atatgtaata tcttacatgt ttgcatgagt gtcagggctt tgtccagtta
     2761 tcttcatatg actgttctct gaaaaaaggt cttactacct gatatcaagt acatatctta
     2821 attttggatg aatttttcca cagtaaagcc gaacagtatt cttttttgaa aattagcaat
     2881 tataaagatt gtttaaaata tcttgatatt ttcacaaatt ttaaacaaaa aattaaatat
     2941 ctataaagtg aatgttcaac aacaatgatg agcaatagaa atctatatat gagaaacgtt
     3001 tggataatat ttgcctcaag gattgtttac ctaaaacaga actatggtta tttatctcag
     3061 attgtaagtt ttattttgaa gtgtcatttt tatggcaata ttgataacac aaatgaccac
     3121 aaactaaatc ataaaataat tgaatcctta cactttgaga aaatggatag cttctgtgtt
     3181 atgataccaa acaaaatatt ttcatattta tttcttagaa ctatttccaa aatatttata
     3241 tttcagtttt tttatggtac tcgaaaaatc aaaccttctg aaaattatga tatttgtact
     3301 tcatttgtgt attagttcat tttctgtttc tattacatag tttttaaagt caatgaaaga
     3361 gattgagaat gttaacattt gttgatcaat gtggagctgt ccacattcgg tatcttttca
     3421 tttttatata tattttacag tttcaagaaa acttagtact actagtatct gccttatttt
     3481 cttaagtctg atgttaattt ttgtttcagg agtgagatat aaacattttg ctttttttca
     3541 gttttgaaat atagtttgtc atcctgtgaa aaccacctcg tttgcttttt gtttgtttgt
     3601 tttgcttttt tagtgtagac ctaaaattat ttttgcctat aaacagtgaa cttaatatgt
     3661 ttctgtgaga gtgacagagc tgtgcccgtt tatcttcatt gtattaatta ttacataaag
     3721 attaacaaat acattgcaaa tgcaaattat aggatgtttg gaggatttat taatgagcat
     3781 gtattgattg cctattccat atccagtgca atgctaggta tgtctatgga aggagtatta
     3841 ttacttcatt tctaaacaaa tgaagtcaag caaattgaga tctttctgaa attatgaaga
     3901 catcttctga taacttatct gttgtatttc ctagtctcaa agtcaagaaa cccgtatatg
     3961 tggacctagg gctaatagga ggtccctatg gcactaactg ggaaaattac atggtgcttt
     4021 tcaactacag aaagaagtaa tgactaatgg gcctgtctgt agagaagaaa aggagaagag
     4081 tacacatttg ctggaactat atataattca cagtggagat agttaattct ttgctaaaac
     4141 tagggtttta tgagtatttt ttaaatctac atttaagttt ttgtttttgt gaaaagttat
     4201 tcagtaagaa aactttataa tattaagtag atacagttat gtattaaaaa tttccttata
     4261 tacccttttg ccagccaaga tactgatatt ttaaaacaaa atggaaaaat gtccaataca
     4321 atattctctt tctggaggct tcctacaagt gaaagcagat tttgtcattt tatttggcct
     4381 ttgcttgtct ttgatatatt tctttatgtg tttttcaaat acatactgtt gtagatttat
     4441 tgtcttgtat ttgcaagtat gccggttgag agaactaaaa tggttatagt attgtttatc
     4501 agaaagagga agtgtactta agattatttt atttatttag atgaaaggct tctacataaa
     4561 tgcactgaaa taaatgctag taatttcttg tatcccactt ctttttttgc ttctcatgga
     4621 aatgtttgta cttttttatc attgtctttt atgaaatata atgttctaaa ga
//
