LOCUS       NM_174965               1658 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3
            (ST3GAL3), transcript variant 3, mRNA.
ACCESSION   NM_174965
VERSION     NM_174965.4
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 1658)
  AUTHORS   Choi,H., Song,K.H., Kim,H.D., Park,J.Y., Lee,Y.C., Choi,H.J. and
            Kim,C.H.
  TITLE     Human ST3Gal II and ST6GalNAc IV genes increase human
            serum-mediated cytotoxicity to xenogeneic cells
  JOURNAL   Xenotransplantation 31 (2), exen12855 (2024)
   PUBMED   38602029
  REMARK    GeneRIF: Human ST3Gal II and ST6GalNAc IV genes increase human
            serum-mediated cytotoxicity to xenogeneic cells.
REFERENCE   2  (bases 1 to 1658)
  AUTHORS   Whitney,R., Jain,P., RamachandranNair,R., Jones,K.C., Kiani,H.,
            Tarnopolsky,M. and Meaney,B.
  TITLE     The epilepsy phenotype of ST3GAL3-related developmental and
            epileptic encephalopathy
  JOURNAL   Epilepsia Open 8 (2), 623-632 (2023)
   PUBMED   37067065
  REMARK    GeneRIF: The epilepsy phenotype of ST3GAL3-related developmental
            and epileptic encephalopathy.
            Review article
REFERENCE   3  (bases 1 to 1658)
  AUTHORS   Xu,L., Niu,X., Liu,Y. and Liu,L.
  TITLE     ST3GAL3 Promotes the Inflammatory Response of Fibroblast-Like
            Synoviocytes in Rheumatoid Arthritis by Activating the TLR9/MyD88
            Pathway
  JOURNAL   Mediators Inflamm 2022, 4258742 (2022)
   PUBMED   36405992
  REMARK    GeneRIF: ST3GAL3 Promotes the Inflammatory Response of
            Fibroblast-Like Synoviocytes in Rheumatoid Arthritis by Activating
            the TLR9/MyD88 Pathway.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1658)
  AUTHORS   Hu,H., Eggers,K., Chen,W., Garshasbi,M., Motazacker,M.M.,
            Wrogemann,K., Kahrizi,K., Tzschach,A., Hosseini,M., Bahman,I.,
            Hucho,T., Muhlenhoff,M., Gerardy-Schahn,R., Najmabadi,H.,
            Ropers,H.H. and Kuss,A.W.
  TITLE     ST3GAL3 mutations impair the development of higher cognitive
            functions
  JOURNAL   Am J Hum Genet 89 (3), 407-414 (2011)
   PUBMED   21907012
  REMARK    GeneRIF: ST3GAL3 mutations impair the development of higher
            cognitive functions.
REFERENCE   5  (bases 1 to 1658)
  AUTHORS   Tu,L. and Banfield,D.K.
  TITLE     Localization of Golgi-resident glycosyltransferases
  JOURNAL   Cell Mol Life Sci 67 (1), 29-41 (2010)
   PUBMED   19727557
  REMARK    Review article
REFERENCE   6  (bases 1 to 1658)
  AUTHORS   Grahn,A., Barkhordar,G.S. and Larson,G.
  TITLE     Identification of seven new alpha2,3-sialyltransferase III, ST3Gal
            III, transcripts from human foetal brain
  JOURNAL   Glycoconj J 20 (7-8), 493-500 (2004)
   PUBMED   15316282
  REMARK    GeneRIF: Identification of a new ST3Gal3 transcript from fetal
            brain.
REFERENCE   7  (bases 1 to 1658)
  AUTHORS   Taniguchi,A., Saito,K., Kubota,T. and Matsumoto,K.
  TITLE     Characterization of the promoter region of the human
            Galbeta1,3(4)GlcNAc alpha2,3-sialyltransferase III (hST3Gal III)
            gene
  JOURNAL   Biochim Biophys Acta 1626 (1-3), 92-96 (2003)
   PUBMED   12697334
  REMARK    GeneRIF: Characterization of the promoter region of the ST3Gal III
            gene.
REFERENCE   8  (bases 1 to 1658)
  AUTHORS   Grahn,A., Barkhordar,G.S. and Larson,G.
  TITLE     Cloning and sequencing of nineteen transcript isoforms of the human
            alpha2,3-sialyltransferase gene, ST3Gal III; its genomic
            organisation and expression in human tissues
  JOURNAL   Glycoconj J 19 (3), 197-210 (2002)
   PUBMED   12815231
  REMARK    GeneRIF: 19 different transcripts of ST3GalIII were isolated and
            cloned; tissue distribution analysis showed complex patterns in
            neural and muscular tissues
REFERENCE   9  (bases 1 to 1658)
  AUTHORS   Kitagawa,H. and Paulson,J.C.
  TITLE     Differential expression of five sialyltransferase genes in human
            tissues
  JOURNAL   J Biol Chem 269 (27), 17872-17878 (1994)
   PUBMED   8027041
REFERENCE   10 (bases 1 to 1658)
  AUTHORS   Kitagawa,H. and Paulson,J.C.
  TITLE     Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha
            2,3-sialyltransferase
  JOURNAL   Biochem Biophys Res Commun 194 (1), 375-382 (1993)
   PUBMED   8333853
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY013772.1, DR003980.1,
            AF425852.1, AL357079.24 and AA478788.1.
            
            On Aug 13, 2020 this sequence version replaced NM_174965.3.
            
            Summary: The protein encoded by this gene is a type II membrane
            protein that catalyzes the transfer of sialic acid from CMP-sialic
            acid to galactose-containing substrates. The encoded protein is
            normally found in the Golgi apparatus but can be proteolytically
            processed to a soluble form. This protein is a member of
            glycosyltransferase family 29. Mutations in this gene have been
            associated with a form of autosomal recessive nonsymdromic
            cognitive disability as well as infantile epileptic encephalopathy.
            Multiple transcript variants encoding several different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (3) has multiple differences in
            the coding region, one of which results in a frameshift compared to
            variant 1. The resulting isoform (c, also called A7) has a distinct
            C-terminus and is shorter compared to isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            CDS exon combination :: AF425852.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2145743, SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-107               HY013772.1         40-146
            108-188             DR003980.1         7-87
            189-701             AF425852.1         1-513
            702-1457            AL357079.24        50264-51019
            1458-1658           AA478788.1         38-238              c
FEATURES             Location/Qualifiers
     source          1..1658
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..1658
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /note="ST3 beta-galactoside alpha-2,3-sialyltransferase 3"
                     /db_xref="GeneID:6487"
                     /db_xref="HGNC:HGNC:10866"
                     /db_xref="MIM:606494"
     exon            1..158
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            159..351
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..701
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /EC_number="2.4.3.6"
                     /note="isoform c is encoded by transcript variant 3;
                     sialyltransferase 6 (N-acetyllacosaminide alpha
                     2,3-sialyltransferase); Gal beta-1,3(4)GlcNAc alpha-2,3
                     sialyltransferase;
                     CMP-N-acetylneuraminate-beta-1,4-galactoside
                     alpha-2,3-sialyltransferase; alpha-2,3-sialyltransferase
                     II; alpha 2,3-sialyltransferase III; alpha 2,3-ST 3;
                     sialyltransferase 6 (N-acetyllactosaminide alpha
                     2,3-sialyltransferase)"
                     /codon_start=1
                     /product="CMP-N-acetylneuraminate-beta-1,4-galactoside
                     alpha-2,3-sialyltransferase isoform c"
                     /protein_id="NP_777625.1"
                     /db_xref="CCDS:CCDS499.1"
                     /db_xref="GeneID:6487"
                     /db_xref="HGNC:HGNC:10866"
                     /db_xref="MIM:606494"
                     /translation="MGLLVFVRNLLLALCLFLVLGFLYYSAWKLHLLQWEEDSSKYSH
                     SSSPQEKPVADSVVLSFDSAGQTLGSEYDRLGFLLNLDSKLPAELATKYANFSEGACK
                     PGYASALMTAIFPRFSKPAPMFLDDSFRKWARIREFVPPFGIKGQVLDAQYPARERVS
                     AEAGESSRHH"
     exon            352..399
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            400..442
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            443..535
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            536..630
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            631..1658
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1641..1646
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /note="hexamer: AATAAA"
     polyA_site      1658
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /note="major polyA site"
ORIGIN      
        1 gctgcgtccc cactatggcg gcgcccatgc agcccagcgc gttgtgggct cccgccgggg
       61 tcccccgcgg ctgtcgccgc cgcctacgcc gctgcctccg ccttcctgcc ccgcgtcggg
      121 ccgggcgcca cctcccccct gcctccctct ccgctgtggt catttaggaa atcgtaaatc
      181 atgtgaagat gggactcttg gtatttgtgc gcaatctgct gctagccctc tgcctctttc
      241 tggtactggg atttttgtat tattctgcgt ggaagctaca cttactccag tgggaggagg
      301 actccagtaa gtatagtcac tctagctcac cccaggagaa gcctgttgca gattcagtgg
      361 ttctttcctt tgactccgct ggacaaacac taggctcaga gtatgatcgg ttgggcttcc
      421 tcctgaatct ggactctaaa ctgcctgctg aattagccac caagtacgca aacttttcag
      481 agggagcttg caagcctggc tatgcttcag ccttgatgac ggccatcttc ccccggttct
      541 ccaagccagc acccatgttc ctggatgact cctttcgcaa gtgggctaga atccgggagt
      601 tcgtgccgcc ttttgggatc aaaggtcaag tcctggacgc acaatatcca gcgagagaaa
      661 gagtttctgc ggaagctggt gaaagctcgc gtcatcactg atctaagcag tggcatctga
      721 gtgggcccag cacatggcca tagaggccca ggcaccacca ggagcagcag ccagcaccac
      781 ctacacagga gtcttcagac ccagagaagg acggtgccaa gggccccagg ggcagcaagg
      841 ccttggtgga gcagccagag ctgtgcctgc tcagcagcca gtctcagaga ccagcactca
      901 gcctcattca gcatgggtcc ttgatgccag agggccagca ggctcctggc tgtgcccagc
      961 aggcccagca tgcaggtggt gggacactgg gcagcaaggc tgctgccgga atcacttctc
     1021 caatcagtgt ttggtgtatt atcattttgt gaatttgggt aggggggagg gtagggataa
     1081 tttattttta aataaggttg gagatgtcaa gttgggttca cttgccatgc aggaagaggc
     1141 ccactagagg gcccatcagg cagtgttacc tgttagctcc ctgtggggca ggagtgccag
     1201 gaccagcctg taccttgctg tggggctaca ggatggtggg caggatctca agccagcccc
     1261 ctccagctca tgacactgtt tggcctttct tggggagaag gcggggtatt cccactcacc
     1321 agccctagct gtcccatggg gaaaccctgg agccatccct tcggagccaa caagaccgcc
     1381 ccagggctat agcagaaaga actttaaagc tcaggagggt gacgcccagc tccgcctgct
     1441 gggaagagct cccctccaca gctgcagctg atccatagga ctaccgcagg cccggactca
     1501 ccaacttgcc acatgttcta ggtttcagca acaagactgc caggtggttg ggttctgcct
     1561 ttagcctgga ccaaagggaa gtgaggccca aggagcttac ccaagctgtg gcagccgtcc
     1621 caggccaccc ccatggaagc aataaagctc ttccctga
//
