LOCUS       NM_006279               2254 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3
            (ST3GAL3), transcript variant 10, mRNA.
ACCESSION   NM_006279
VERSION     NM_006279.5
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 2254)
  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 2254)
  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 2254)
  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 2254)
  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 2254)
  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 2254)
  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 2254)
  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 2254)
  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 2254)
  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 2254)
  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, BC050380.1 and
            AA478788.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 3, 2019 this sequence version replaced NM_006279.4.
            
            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 (10) has multiple differences in
            the coding region but maintains the reading frame compared to
            variant 1. The resulting isoform (j, also called B1) is shorter
            compared to isoform a.
            
            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 :: BC050380.1, SRR1803617.222324.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000347631.8/ ENSP00000317192.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                HY013772.1         40-52
            14-2068             BC050380.1         1-2055
            2069-2254           AA478788.1         38-223              c
FEATURES             Location/Qualifiers
     source          1..2254
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2254
                     /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..306
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1316
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /EC_number="2.4.3.6"
                     /note="isoform j is encoded by transcript variant 10;
                     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 j"
                     /protein_id="NP_006270.1"
                     /db_xref="CCDS:CCDS492.1"
                     /db_xref="GeneID:6487"
                     /db_xref="HGNC:HGNC:10866"
                     /db_xref="MIM:606494"
                     /translation="MGLLVFVRNLLLALCLFLVLGFLYYSAWKLHLLQWEEDSNSVVL
                     SFDSAGQTLGSEYDRLGFLLNLDSKLPAELATKYANFSEGACKPGYASALMTAIFPRF
                     SKPAPMFLDDSFRKWARIREFVPPFGIKGQDNLIKAILSVTKEYRLTPALDSLRCRRC
                     IIVGNGGVLANKSLGSRIDDYDIVVRLNSAPVKGFEKDVGSKTTLRITYPEGAMQRPE
                     QYERDSLFVLAGFKWQDFKWLKYIVYKERVSASDGFWKSVATRVPKEPPEIRILNPYF
                     IQEAAFTLIGLPFNNGLMGRGNIPTLGSVAVTMALHGCDEVAVAGFGYDMSTPNAPLH
                     YYETVRMAAIKESWTHNIQREKEFLRKLVKARVITDLSSGI"
     exon            307..354
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            355..397
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            398..490
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            491..585
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            586..649
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            650..745
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            746..932
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1079
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1226
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..2254
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2237..2242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL3"
                     /gene_synonym="DEE15; EIEE15; MRT12; SIAT6; ST3Gal III;
                     ST3GALII; ST3GalIII; ST3N"
                     /note="hexamer: AATAAA"
     polyA_site      2254
                     /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 actccaattc agtggttctt tcctttgact ccgctggaca aacactaggc tcagagtatg
      361 atcggttggg cttcctcctg aatctggact ctaaactgcc tgctgaatta gccaccaagt
      421 acgcaaactt ttcagaggga gcttgcaagc ctggctatgc ttcagccttg atgacggcca
      481 tcttcccccg gttctccaag ccagcaccca tgttcctgga tgactccttt cgcaagtggg
      541 ctagaatccg ggagttcgtg ccgccttttg ggatcaaagg tcaagacaat ctgatcaaag
      601 ccatcttgtc agtcaccaaa gagtaccgcc tgacccctgc cttggacagc ctccgctgcc
      661 gccgctgcat catcgtgggc aatggaggcg ttcttgccaa caagtctctg gggtcacgaa
      721 ttgacgacta tgacattgtg gtgagactga attcagcacc agtgaaaggc tttgagaagg
      781 acgtgggcag caaaacgaca ctgcgcatca cctaccccga gggcgccatg cagcggcctg
      841 agcagtacga gcgcgattct ctctttgtcc tcgccggctt caagtggcag gactttaagt
      901 ggttgaaata catcgtctac aaggagagag tgagtgcatc ggatggcttc tggaaatctg
      961 tggccactcg agtgcccaag gagccccctg agattcgaat cctcaaccca tatttcatcc
     1021 aggaggccgc cttcaccctc attggcctgc ccttcaacaa tggcctcatg ggccggggga
     1081 acatccctac ccttggcagt gtggcagtga ccatggcact acacggctgt gacgaggtgg
     1141 cagtcgcagg atttggctat gacatgagca cacccaacgc acccctgcac tactatgaga
     1201 ccgttcgcat ggcagccatc aaagagtcct ggacgcacaa tatccagcga gagaaagagt
     1261 ttctgcggaa gctggtgaaa gctcgcgtca tcactgatct aagcagtggc atctgagtgg
     1321 gcccagcaca tggccataga ggcccaggca ccaccaggag cagcagccag caccacctac
     1381 acaggagtct tcagacccag agaaggacgg tgccaagggc cccaggggca gcaaggcctt
     1441 ggtggagcag ccagagctgt gcctgctcag cagccagtct cagagaccag cactcagcct
     1501 cattcagcat gggtccttga tgccagaggg ccagcaggct cctggctgtg cccagcaggc
     1561 ccagcatgca ggtggtggga cactgggcag caaggctgct gccggaatca cttctccaat
     1621 cagtgtttgg tgtattatca ttttgtgaat ttgggtaggg gggagggtag ggataattta
     1681 tttttaaata aggttggaga tgtcaagttg ggttcacttg ccatgcagga agaggcccac
     1741 tagagggccc atcaggcagt gttacctgtt agctccctgt ggggcaggag tgccaggacc
     1801 agcctgtacc ttgctgtggg gctacaggat ggtgggcagg atctcaagcc agccccctcc
     1861 agctcatgac actgtttggc ctttcttggg gagaaggcgg ggtattccca ctcaccagcc
     1921 ctagctgtcc catggggaaa ccctggagcc atcccttcgg agccaacaag accgccccag
     1981 ggctatagca gaaagaactt taaagctcag gagggtgacg cccagctccg cctgctggga
     2041 agagctcccc tccacagctg cagctgatcc ataggactac cgcaggcccg gactcaccaa
     2101 cttgccacat gttctaggtt tcagcaacaa gactgccagg tggttgggtt ctgcctttag
     2161 cctggaccaa agggaagtga ggcccaagga gcttacccaa gctgtggcag ccgtcccagg
     2221 ccacccccat ggaagcaata aagctcttcc ctga
//
