LOCUS       NM_001413977            5269 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens beta-1,4-N-acetyl-galactosaminyltransferase 1
            (B4GALNT1), transcript variant 12, mRNA.
ACCESSION   NM_001413977
VERSION     NM_001413977.1
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 5269)
  AUTHORS   Liu,W., Chen,Y., Yang,J., Guo,M. and Wang,L.
  TITLE     B4GALNT1 promotes carcinogenesis by regulating
            epithelial-mesenchymal transition in hepatocellular carcinoma based
            on pan-cancer analysis
  JOURNAL   J Gene Med 25 (11), e3552 (2023)
   PUBMED   37337736
  REMARK    GeneRIF: B4GALNT1 promotes carcinogenesis by regulating
            epithelial-mesenchymal transition in hepatocellular carcinoma based
            on pan-cancer analysis.
REFERENCE   2  (bases 1 to 5269)
  AUTHORS   Ballard,C.J., Paserba,M.R., Paul Daniel,E.J., Hurtado-Guerrero,R.
            and Gerken,T.A.
  TITLE     Polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) isozyme
            surface charge governs charge substrate preferences to modulate
            mucin type O-glycosylation
  JOURNAL   Glycobiology 33 (10), 817-836 (2023)
   PUBMED   37555669
  REMARK    GeneRIF: Polypeptide N-acetylgalactosaminyltransferase (GalNAc-T)
            isozyme surface charge governs charge substrate preferences to
            modulate mucin type O-glycosylation.
REFERENCE   3  (bases 1 to 5269)
  AUTHORS   Alecu,J.E., Ohmi,Y., Bhuiyan,R.H., Inamori,K.I., Nitta,T.,
            Saffari,A., Jumo,H., Ziegler,M., de Gusmao,C.M., Sharma,N.,
            Ohno,S., Manabe,N., Yamaguchi,Y., Kambe,M., Furukawa,K., Sahin,M.,
            Inokuchi,J.I., Furakawa,K. and Ebrahimi-Fakhari,D.
  TITLE     Functional validation of novel variants in B4GALNT1 associated with
            early-onset complex hereditary spastic paraplegia with impaired
            ganglioside synthesis
  JOURNAL   Am J Med Genet A 188 (9), 2590-2598 (2022)
   PUBMED   35775650
  REMARK    GeneRIF: Functional validation of novel variants in B4GALNT1
            associated with early-onset complex hereditary spastic paraplegia
            with impaired ganglioside synthesis.
REFERENCE   4  (bases 1 to 5269)
  AUTHORS   Mansoori,M., Abdi Rad,I., Mirzaei,A., Tam,K.J., Mohsen Hosseini,S.,
            Mahmodlu,R., Mansouri,F., Saeednejad Zanjani,L. and Madjd,Z.
  TITLE     Does GD2 synthase (GD2S) detect cancer stem cells in blood samples
            of breast carcinomas?
  JOURNAL   J Appl Biomed 19 (4), 181-189 (2021)
   PUBMED   34907737
  REMARK    GeneRIF: Does GD2 synthase (GD2S) detect cancer stem cells in blood
            samples of breast carcinomas?
REFERENCE   5  (bases 1 to 5269)
  AUTHORS   Jiang,T., Wu,H., Lin,M., Yin,J., Tan,L., Ruan,Y. and Feng,M.
  TITLE     B4GALNT1 promotes progression and metastasis in lung adenocarcinoma
            through JNK/c-Jun/Slug pathway
  JOURNAL   Carcinogenesis 42 (4), 621-630 (2021)
   PUBMED   33367717
  REMARK    GeneRIF: B4GALNT1 promotes progression and metastasis in lung
            adenocarcinoma through JNK/c-Jun/Slug pathway.
REFERENCE   6  (bases 1 to 5269)
  AUTHORS   Ruan,S., Raj,B.K., Furukawa,K. and Lloyd,K.O.
  TITLE     Analysis of melanoma cells stably transfected with beta 1,4GalNAc
            transferase (GM2/GD2 synthase) cDNA: relative glycosyltransferase
            levels play a dominant role in determining ganglioside expression
  JOURNAL   Arch Biochem Biophys 323 (1), 11-18 (1995)
   PUBMED   7487055
REFERENCE   7  (bases 1 to 5269)
  AUTHORS   Yamashiro,S., Haraguchi,M., Furukawa,K., Takamiya,K., Yamamoto,A.,
            Nagata,Y., Lloyd,K.O., Shiku,H. and Furukawa,K.
  TITLE     Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase
            in vitro and in cDNA-transfected cells. GM2/GD2 synthase
            efficiently generates asialo-GM2 in certain cells
  JOURNAL   J Biol Chem 270 (11), 6149-6155 (1995)
   PUBMED   7890749
REFERENCE   8  (bases 1 to 5269)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J Biol Chem 269 (9), 7045 (1994)
   PUBMED   8120069
  REMARK    Correction to:[J Biol Chem. 1992 Jun 15;267(17):12082-9.. PMID:
            1601877]
REFERENCE   9  (bases 1 to 5269)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   10 (bases 1 to 5269)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J Biol Chem 267 (17), 12082-12089 (1992)
   PUBMED   1601877
  REMARK    Erratum:[J Biol Chem. 1994 Mar 4;269(9):7045.. PMID: 8120069]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025165.27.
            
            Summary: GM2 and GD2 gangliosides are sialic acid-containing
            glycosphingolipids. GalNAc-T is the enzyme involved in the
            biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T
            catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4
            linkage, resulting in the synthesis of G(M2) and G(D2),
            respectively. Three transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Feb 2013].
            
            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 :: SRR14038193.4274728.1,
                                           SRR14038196.3482561.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-430               AC025165.27        26691-27120         c
            431-649             AC025165.27        25834-26052         c
            650-814             AC025165.27        25119-25283         c
            815-921             AC025165.27        24899-25005         c
            922-962             AC025165.27        24397-24437         c
            963-1143            AC025165.27        24071-24251         c
            1144-1334           AC025165.27        22632-22822         c
            1335-1475           AC025165.27        22041-22181         c
            1476-1716           AC025165.27        21537-21777         c
            1717-5269           AC025165.27        17328-20880         c
FEATURES             Location/Qualifiers
     source          1..5269
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..5269
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="beta-1,4-N-acetyl-galactosaminyltransferase 1"
                     /db_xref="GeneID:2583"
                     /db_xref="HGNC:HGNC:4117"
                     /db_xref="MIM:601873"
     exon            1..430
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            431..649
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     CDS             432..1934
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /EC_number="2.4.1.92"
                     /note="isoform 7 is encoded by transcript variant 12;
                     UDP-Gal:betaGlcNAc
                     beta-1,4-N-acetylgalactosaminyltransferase transferase 1;
                     GD2 synthase, GM2 synthase;
                     beta-1,4-N-acetyl-galactosaminyl transferase 1;
                     UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-
                     galactosylglucosylceramide
                     N-acetylgalactosaminyltransferase (GalNAc-T);
                     beta1,4GalNAc-T; GM2/GD2 synthase"
                     /codon_start=1
                     /product="beta-1,4 N-acetylgalactosaminyltransferase 1
                     isoform 7"
                     /protein_id="NP_001400906.1"
                     /db_xref="GeneID:2583"
                     /db_xref="HGNC:HGNC:4117"
                     /db_xref="MIM:601873"
                     /translation="MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQ
                     SPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDL
                     TKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI
                     LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNR
                     QLQLVTYSSRSYQTNTADTAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVV
                     IADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRL
                     ERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVG
                     FPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDH
                     ASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ"
     exon            650..814
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            815..921
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            922..962
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1143
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1334
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1475
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1716
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1717..5269
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2537
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="major polyA site"
     regulatory      5027..5032
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="hexamer: ATTAAA"
     polyA_site      5048
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
     regulatory      5244..5249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="hexamer: AATAAG"
     polyA_site      5269
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="major polyA site"
ORIGIN      
        1 gcattccccg cgcggagccg aagcagccgc aacgagccgg gagctgagcc gcgctgcgct
       61 gcggtgcgaa gagccgggcg gcggccagag ccctccccgc gctgccagtg ggacgcggag
      121 ccagggatcc ccggctttgc cccggggctg gggtgcaaca gactcttaac ttggtcctcg
      181 cgccccgcca accgcccccg ggcaggaaac gcccagaacc accaccgcgc cgcgctccac
      241 aaaagccccg ggagttccaa gacgggaggg atcgggcgcg ctccagaggc aggagggtcc
      301 cccacaccct caggctcatg cccagctccc ccatcgggca gcccccagcc ccatgaggac
      361 cctcaggccg gggcgagagc ccggcacagc ccggaccgaa attttgccgc tgccttagag
      421 cgttagacag gatgtggctg ggccgccggg ccctgtgcgc tctggtcctt ctgctcgcct
      481 gcgcctcgct ggggctcctg tacgcgagca cccgggacgc gcccggcctc cggctacctc
      541 ttgcgccgtg ggcgcccccg caaagccccc gcaggcccga gctgccagat cttgctcctg
      601 agccccgcta cgcacacatc ccggtcagga tcaaggagca agtagtgggg ctgctggctt
      661 ggaacaactg cagttgtgag tccagtgggg ggggcctccc cctccccttc cagaaacaag
      721 tccgagctat tgacctcacc aaggcctttg accctgcaga gctgagggct gcctctgcca
      781 caagagagca ggagttccag gcctttctgt cgaggagcca gtccccagct gaccagctgc
      841 tcatagcccc tgccaactcc ccgctccagt accccctaca gggtgtggaa gttcagcccc
      901 tcaggagcat cttggtgcca gggctgagcc ttcaggcagc ttctggtcag gaggtatacc
      961 aggtgaacct gactgcctcc ctaggcacct gggacgtggc aggggaagtg actggagtta
     1021 ctctcactgg agagggtcag gcagatctca cccttgtcag cccagggctg gaccaactca
     1081 acaggcaact acaactggtc acttacagca gccgaagcta ccagaccaac acagcagaca
     1141 cagcccagta caacatcagc gctctagtca cgattgccac caagaccttc ctccgttatg
     1201 atcggctacg ggctctcatc accagtatcc gccgcttcta cccaacggtt accgtggtca
     1261 tcgctgacga cagcgacaag ccagagcgcg ttagtggccc ctacgtggaa cactatctca
     1321 tgcccttcgg caagggctgg ttcgcaggcc ggaacctggc cgtgtctcaa gtaaccacca
     1381 agtacgtgct gtgggtggac gacgacttcg tcttcacggc gcggacgcgg ctggagaggc
     1441 ttgtggacgt gctggagcgg acgccgctgg acctggtggg gggcgcggtg cgcgagatct
     1501 ccggctttgc caccacttat cggcagctgc tgagcgtgga gcccggcgcc ccaggcctcg
     1561 ggaactgcct ccggcaaagg cgcggcttcc accacgagct cgtcggcttc ccaggctgcg
     1621 tggtcaccga cggcgtggtt aacttcttcc tggcgcggac tgacaaggtg cgcgaggtcg
     1681 gtttcgaccc ccgcctcagc cgcgtggctc atctggaatt cttcttggat gggcttggtt
     1741 cccttcgggt tggctcctgc tccgacgtcg tggtggatca tgcatccaaa ctgaagctgc
     1801 cttggacatc aagggatgcc ggagcagaga cttacgcccg gtaccgttac ccaggatcac
     1861 tggacgagag ccagatggcc aaacaccggc tgctcttctt caaacaccgg ctgcagtgca
     1921 tgacctccca gtgatggccc gctggggatt tctgactgtc aggctgggcc tgcctccttg
     1981 tccctgccag gaatttccaa caaaccccac caccctgtga gcactctact ggctgtccct
     2041 gagcctctag ttcctcactc ttccttttca gaacctgatg cccagtaggg gttgtcctgg
     2101 tgacacccct cctttttcca gtgcccagag gcctggtgga gccataacct ctcccacagc
     2161 cagtgccaag tcctccccct gcccattctc atggggcagg aaatgggggg atcactttcc
     2221 aagtgccaaa gagcccagag ggactctaag aacctaaggt ggaaacactg tcctctcatc
     2281 ttgggaccga gggggtgggg aagttcccca acacataatc ccaagactgt gcccctcatc
     2341 tgcatcttca gatccagtac tctgtgtacc tgctccagcc ccacccccac agagagaact
     2401 tgtggctctg gggctggggt gagggctggt ggttggtgaa agccattctt agttgtgtct
     2461 ctgcaatgct gtgggcacaa aagaaggggc accagagtcc ctgtgcaaac acctagactc
     2521 acttcatgga ttccaaagct ctcagcttca ttttattagt tacgttaggt aagggggttc
     2581 aagggtcatg gtcctcatca cacacatgtc atcagggccc tctgcactcc acatgatgag
     2641 gtcagaccca cacggtgcaa atctttgggt cagtgagctc ctggagaaga gaggagacat
     2701 gtcaggaata gattaggcac ccctcttcct taatgaaatg tggcagtcct ctcaggggta
     2761 ccccacctac ttagggatct gagttcttca gttcctcacc catagctcag cccgggctcc
     2821 ctgatttggt cttcaatcta ctattcattc cgtccccacc cttttcttct tgatcttcct
     2881 cagacccttt cccaaacccc tctccctggg tctccagcca cttacccctg cctcacttgc
     2941 cgcagcccag tgcctcctgg ctcccgctcc tggtgctact gccccttaac aggctcccca
     3001 gggcataagc agctgcatcc tgcacactca caaacagctg atctggagtc accctgtcca
     3061 ggagtcctac ccgggtcagt gtcccctgca ccaaggctat gtggggaggg tgtcagactc
     3121 tgagacccta agtccacacc gggtcctttt ccctaccgca ggtgtccagt cattgcccag
     3181 gcactgggcc ccgctcttct ccacacatct caccattaca ctgagccagg aggaggcgga
     3241 tcctagcatc tcgacatcgg ctggccagct gcagggatgg ggcaaagggg ttaagtccca
     3301 gatcagaggg tatgagtgag atgctaaggg gtttctcctc aacctaccct ctccctcacc
     3361 tgcaccactt ctctggcccc agcagcatct gcaaaggtga caccactgaa gtctaggacc
     3421 accaccctga caggctcagc aactagaatg ggagaagaca ggagtaccca ggtgtcacca
     3481 tgcaacatgc ccaaatcttc cttcttgtca ccccatctca cctgcaacca ttgggccatc
     3541 tggctttgaa gtctcctata agtaaagaag ggcagtcacc actcccgaaa cacagcatga
     3601 acatgcaccc cttgagcaca aggatccccc tcagaacacc cacctgcctc ccactccctg
     3661 aggatccaca tccctcctaa accaagctcc ttcacctttt ctccttctcc gagccccagg
     3721 tgccactcca ggttgcagcg aaactgccca cgggtcccaa agtacagtgg tgttggatag
     3781 ctcaggatgc agagccccgg gacctggagg agctaagagg tcaaaggatc agagaaatgt
     3841 ctggggctaa tcttcccttc cttctttggc tgcagcccac ccaccctggg gcttcctctg
     3901 agtggtctgt agagctctgt cccctcagcc tgtccaagtg ccaggcacta caccctaggg
     3961 aagaaggtgg ggccagattt ccagcttagc ctggcctggc tggagagtca ccccaagcac
     4021 ctcattctct tcccctgccc cgacctcaac tccactcatc tctatgccca cctccgggtg
     4081 cggcagacca cagtcatcat ggagaagacc acacccacag ccaggcccaa atccacactc
     4141 agggtcacta ctgccaccca ggtgaccatc cacacagcct gcaggatagg gataggggtg
     4201 gattgcccaa aagaaaagcc aggccatcac tgctgggtaa agagatccag ggcagtgact
     4261 accaaggcaa gtgatgggga gagatgatcc aggaagaagt ggaaagcatg acagaaggaa
     4321 acaacagggt tgattcaatg ggacacacac caaatgtaat gacccgcacc agttgggaag
     4381 ttacaaatat tcaggccaaa ggggttcaaa ccccatcctt tcccttgcct gtgagtaaag
     4441 catactagga gttatgtttg ctgggggagt gggtgggttg cagaacttaa gaccaggaca
     4501 attaggtttg gttcagggca gaggctgggg atgctaacaa gatgagaggg ggcaatctgg
     4561 gggtaatggc atttctcaca aagtccactc ggctgatgtg ccatagttgt ggaagttcct
     4621 gcatctggca gaacacctgg cgcatgctgg agatgttgat gcaagccagg acagccttga
     4681 ggcagaggag gtgggctgac tacctcgatg tcctggaata cagctacccc tcccagccat
     4741 gctcatgcct cctctgctca ttaccttggg cagatagtaa aagaagggcc ccagccacag
     4801 cagcaccgac aggaccactg tgcaggagaa gaggcctgcc agctagagaa aaggaggaac
     4861 aggagcaaaa aaggaagaga gcctcccacc cccacatgag agctggtctt cctgcccact
     4921 ctgcctaatc ttcctcggaa gtctcccttc tcccaaatct ccttccacac aacccccttc
     4981 ttaatattct gccattcaca tctaaccctc ccgctccccc caattaatta aatgcccatt
     5041 attcaccagt ctccttgtag atgtccattg ttcaagttcc ccagttttgt agcccacctc
     5101 caccttaaaa gccactgttg ggttacccta taagcagggt atatgtgttt agggcaccag
     5161 caaagtaagg gaaaccaaaa atattagggg gagactttga tatgtgatat tccttttaaa
     5221 agacaatgtc attgtgtgaa aaaaataaga attttatctc ttaagttta
//
