LOCUS       NM_001478               5368 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens beta-1,4-N-acetyl-galactosaminyltransferase 1
            (B4GALNT1), transcript variant 1, mRNA.
ACCESSION   NM_001478
VERSION     NM_001478.5
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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 5368)
  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 AK299845.1, M83651.1 and
            AC025165.27.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001478.4.
            
            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].
            
            Transcript Variant: This variant (1) encodes isoform 1. Variants 1,
            10 and 11 all encode the same isoform (1).
            
            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 :: SRR1803616.37684.1,
                                           SRR1803615.44717.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341156.9/ ENSP00000341562.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-371               AK299845.1         39-409
            372-2721            M83651.1           1-2350
            2722-2882           M83651.1           2352-2512
            2883-5368           AC025165.27        17328-19813         c
FEATURES             Location/Qualifiers
     source          1..5368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..5368
                     /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..2033
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /EC_number="2.4.1.92"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_001469.1"
                     /db_xref="CCDS:CCDS8950.1"
                     /db_xref="GeneID:2583"
                     /db_xref="HGNC:HGNC:4117"
                     /db_xref="MIM:601873"
                     /translation="MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQ
                     SPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDL
                     TKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI
                     LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNR
                     QLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNIS
                     ALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGK
                     GWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGF
                     ATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVG
                     FDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPG
                     SLDESQMAKHRLLFFKHRLQCMTSQ"
     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..1242
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1433
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1574
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1575..1815
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..5368
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2636
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="major polyA site"
     regulatory      5126..5131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="hexamer: ATTAAA"
     polyA_site      5147
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
     regulatory      5343..5348
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALNT1"
                     /gene_synonym="GALGT; GalNAc-T; GALNACT; SPG26"
                     /note="hexamer: AATAAG"
     polyA_site      5368
                     /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 cagtccggtt ctccaccgag ggacatgagg ctgctttcac tatccgcata agacacccgc
     1201 ccaaccctcg gctgtaccca cctgggtctc taccccaggg agcccagtac aacatcagcg
     1261 ctctagtcac gattgccacc aagaccttcc tccgttatga tcggctacgg gctctcatca
     1321 ccagtatccg ccgcttctac ccaacggtta ccgtggtcat cgctgacgac agcgacaagc
     1381 cagagcgcgt tagtggcccc tacgtggaac actatctcat gcccttcggc aagggctggt
     1441 tcgcaggccg gaacctggcc gtgtctcaag taaccaccaa gtacgtgctg tgggtggacg
     1501 acgacttcgt cttcacggcg cggacgcggc tggagaggct tgtggacgtg ctggagcgga
     1561 cgccgctgga cctggtgggg ggcgcggtgc gcgagatctc cggctttgcc accacttatc
     1621 ggcagctgct gagcgtggag cccggcgccc caggcctcgg gaactgcctc cggcaaaggc
     1681 gcggcttcca ccacgagctc gtcggcttcc caggctgcgt ggtcaccgac ggcgtggtta
     1741 acttcttcct ggcgcggact gacaaggtgc gcgaggtcgg tttcgacccc cgcctcagcc
     1801 gcgtggctca tctggaattc ttcttggatg ggcttggttc ccttcgggtt ggctcctgct
     1861 ccgacgtcgt ggtggatcat gcatccaaac tgaagctgcc ttggacatca agggatgccg
     1921 gagcagagac ttacgcccgg taccgttacc caggatcact ggacgagagc cagatggcca
     1981 aacaccggct gctcttcttc aaacaccggc tgcagtgcat gacctcccag tgatggcccg
     2041 ctggggattt ctgactgtca ggctgggcct gcctccttgt ccctgccagg aatttccaac
     2101 aaaccccacc accctgtgag cactctactg gctgtccctg agcctctagt tcctcactct
     2161 tccttttcag aacctgatgc ccagtagggg ttgtcctggt gacacccctc ctttttccag
     2221 tgcccagagg cctggtggag ccataacctc tcccacagcc agtgccaagt cctccccctg
     2281 cccattctca tggggcagga aatgggggga tcactttcca agtgccaaag agcccagagg
     2341 gactctaaga acctaaggtg gaaacactgt cctctcatct tgggaccgag ggggtgggga
     2401 agttccccaa cacataatcc caagactgtg cccctcatct gcatcttcag atccagtact
     2461 ctgtgtacct gctccagccc cacccccaca gagagaactt gtggctctgg ggctggggtg
     2521 agggctggtg gttggtgaaa gccattctta gttgtgtctc tgcaatgctg tgggcacaaa
     2581 agaaggggca ccagagtccc tgtgcaaaca cctagactca cttcatggat tccaaagctc
     2641 tcagcttcat tttattagtt acgttaggta agggggttca agggtcatgg tcctcatcac
     2701 acacatgtca tcagggccct ctgcactcca catgatgagg tcagacccac acggtgcaaa
     2761 tctttgggtc agtgagctcc tggagaagag aggagacatg tcaggaatag attaggcacc
     2821 cctcttcctt aatgaaatgt ggcagtcctc tcaggggtac cccacctact tagggatctg
     2881 agttcttcag ttcctcaccc atagctcagc ccgggctccc tgatttggtc ttcaatctac
     2941 tattcattcc gtccccaccc ttttcttctt gatcttcctc agaccctttc ccaaacccct
     3001 ctccctgggt ctccagccac ttacccctgc ctcacttgcc gcagcccagt gcctcctggc
     3061 tcccgctcct ggtgctactg ccccttaaca ggctccccag ggcataagca gctgcatcct
     3121 gcacactcac aaacagctga tctggagtca ccctgtccag gagtcctacc cgggtcagtg
     3181 tcccctgcac caaggctatg tggggagggt gtcagactct gagaccctaa gtccacaccg
     3241 ggtccttttc cctaccgcag gtgtccagtc attgcccagg cactgggccc cgctcttctc
     3301 cacacatctc accattacac tgagccagga ggaggcggat cctagcatct cgacatcggc
     3361 tggccagctg cagggatggg gcaaaggggt taagtcccag atcagagggt atgagtgaga
     3421 tgctaagggg tttctcctca acctaccctc tccctcacct gcaccacttc tctggcccca
     3481 gcagcatctg caaaggtgac accactgaag tctaggacca ccaccctgac aggctcagca
     3541 actagaatgg gagaagacag gagtacccag gtgtcaccat gcaacatgcc caaatcttcc
     3601 ttcttgtcac cccatctcac ctgcaaccat tgggccatct ggctttgaag tctcctataa
     3661 gtaaagaagg gcagtcacca ctcccgaaac acagcatgaa catgcacccc ttgagcacaa
     3721 ggatccccct cagaacaccc acctgcctcc cactccctga ggatccacat ccctcctaaa
     3781 ccaagctcct tcaccttttc tccttctccg agccccaggt gccactccag gttgcagcga
     3841 aactgcccac gggtcccaaa gtacagtggt gttggatagc tcaggatgca gagccccggg
     3901 acctggagga gctaagaggt caaaggatca gagaaatgtc tggggctaat cttcccttcc
     3961 ttctttggct gcagcccacc caccctgggg cttcctctga gtggtctgta gagctctgtc
     4021 ccctcagcct gtccaagtgc caggcactac accctaggga agaaggtggg gccagatttc
     4081 cagcttagcc tggcctggct ggagagtcac cccaagcacc tcattctctt cccctgcccc
     4141 gacctcaact ccactcatct ctatgcccac ctccgggtgc ggcagaccac agtcatcatg
     4201 gagaagacca cacccacagc caggcccaaa tccacactca gggtcactac tgccacccag
     4261 gtgaccatcc acacagcctg caggataggg ataggggtgg attgcccaaa agaaaagcca
     4321 ggccatcact gctgggtaaa gagatccagg gcagtgacta ccaaggcaag tgatggggag
     4381 agatgatcca ggaagaagtg gaaagcatga cagaaggaaa caacagggtt gattcaatgg
     4441 gacacacacc aaatgtaatg acccgcacca gttgggaagt tacaaatatt caggccaaag
     4501 gggttcaaac cccatccttt cccttgcctg tgagtaaagc atactaggag ttatgtttgc
     4561 tgggggagtg ggtgggttgc agaacttaag accaggacaa ttaggtttgg ttcagggcag
     4621 aggctgggga tgctaacaag atgagagggg gcaatctggg ggtaatggca tttctcacaa
     4681 agtccactcg gctgatgtgc catagttgtg gaagttcctg catctggcag aacacctggc
     4741 gcatgctgga gatgttgatg caagccagga cagccttgag gcagaggagg tgggctgact
     4801 acctcgatgt cctggaatac agctacccct cccagccatg ctcatgcctc ctctgctcat
     4861 taccttgggc agatagtaaa agaagggccc cagccacagc agcaccgaca ggaccactgt
     4921 gcaggagaag aggcctgcca gctagagaaa aggaggaaca ggagcaaaaa aggaagagag
     4981 cctcccaccc ccacatgaga gctggtcttc ctgcccactc tgcctaatct tcctcggaag
     5041 tctcccttct cccaaatctc cttccacaca acccccttct taatattctg ccattcacat
     5101 ctaaccctcc cgctcccccc aattaattaa atgcccatta ttcaccagtc tccttgtaga
     5161 tgtccattgt tcaagttccc cagttttgta gcccacctcc accttaaaag ccactgttgg
     5221 gttaccctat aagcagggta tatgtgttta gggcaccagc aaagtaaggg aaaccaaaaa
     5281 tattaggggg agactttgat atgtgatatt ccttttaaaa gacaatgtca ttgtgtgaaa
     5341 aaaataagaa ttttatctct taagttta
//
