LOCUS       NM_003896               4366 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5
            (ST3GAL5), transcript variant 1, mRNA.
ACCESSION   NM_003896
VERSION     NM_003896.4
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 4366)
  AUTHORS   Dookwah,M., Wagner,S.K., Ishihara,M., Yu,S.H., Ulrichs,H.,
            Kulik,M.J., Zeltner,N., Dalton,S., Strauss,K.A., Aoki,K., Steet,R.
            and Tiemeyer,M.
  TITLE     Neural-specific alterations in glycosphingolipid biosynthesis and
            cell signaling associated with two human ganglioside GM3 synthase
            deficiency variants
  JOURNAL   Hum Mol Genet 32 (24), 3323-3341 (2023)
   PUBMED   37676252
  REMARK    GeneRIF: Neural-specific alterations in glycosphingolipid
            biosynthesis and cell signaling associated with two human
            ganglioside GM3 synthase deficiency variants.
REFERENCE   2  (bases 1 to 4366)
  AUTHORS   Watanabe,S., Lei,M., Nakagawa,E., Takeshita,E., Inamori,K.I.,
            Shishido,F., Sasaki,M., Mitsuhashi,S., Matsumoto,N., Kimura,Y.,
            Iwasaki,M., Takahashi,Y., Mizusawa,H., Migita,O., Ohno,I. and
            Inokuchi,J.I.
  TITLE     Neurological insights on two siblings with GM3 synthase deficiency
            due to novel compound heterozygous ST3GAL5 variants
  JOURNAL   Brain Dev 45 (5), 270-277 (2023)
   PUBMED   36690566
  REMARK    GeneRIF: Neurological insights on two siblings with GM3 synthase
            deficiency due to novel compound heterozygous ST3GAL5 variants.
REFERENCE   3  (bases 1 to 4366)
  AUTHORS   Liu,J., Li,M., Wu,J., Qi,Q., Li,Y., Wang,S., Liang,S., Zhang,Y.,
            Zhu,Z., Huang,R., Yan,J. and Zhu,R.
  TITLE     Identification of ST3GAL5 as a prognostic biomarker correlating
            with CD8+ T cell exhaustion in clear cell renal cell carcinoma
  JOURNAL   Front Immunol 13, 979605 (2022)
   PUBMED   36172374
  REMARK    GeneRIF: Identification of ST3GAL5 as a prognostic biomarker
            correlating with CD8(+) T cell exhaustion in clear cell renal cell
            carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4366)
  AUTHORS   Indellicato,R., Parini,R., Domenighini,R., Malagolini,N.,
            Iascone,M., Gasperini,S., Masera,N., dall'Olio,F. and Trinchera,M.
  TITLE     Total loss of GM3 synthase activity by a normally processed enzyme
            in a novel variant and in all ST3GAL5 variants reported to cause a
            distinct congenital disorder of glycosylation
  JOURNAL   Glycobiology 29 (3), 229-241 (2019)
   PUBMED   30576498
  REMARK    GeneRIF: HEK-293T clones permanently expressing HaloTag-ST3GAL5
            carrying each of the five variants were assessed by quantitative
            PCR, flow cytometry, western blotting and confocal microscopy.
            Compared with the very mild phenotype of st3gal5 KO mouse models,
            the results suggest that unknown mechanisms, in addition to the
            lack of a-b-c-series gangliosides, contribute to the syndrome.
REFERENCE   5  (bases 1 to 4366)
  AUTHORS   Gordon-Lipkin,E., Cohen,J.S., Srivastava,S., Soares,B.P., Levey,E.
            and Fatemi,A.
  TITLE     ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism
            and a Genetic Cause of Intellectual Disability and Choreoathetosis
  JOURNAL   J Child Neurol 33 (13), 825-831 (2018)
   PUBMED   30185102
  REMARK    GeneRIF: GM3 synthase deficiency is a neurodevelopmental disorder
            with consistent features of profound intellectual disability,
            choreoathetosis, and deafness.
REFERENCE   6  (bases 1 to 4366)
  AUTHORS   Allende,M.L., Li,J., Darling,D.S., Worth,C.A. and Young,W.W. Jr.
  TITLE     Evidence supporting a late Golgi location for lactosylceramide to
            ganglioside GM3 conversion
  JOURNAL   Glycobiology 10 (10), 1025-1032 (2000)
   PUBMED   11030748
REFERENCE   7  (bases 1 to 4366)
  AUTHORS   Kapitonov,D., Bieberich,E. and Yu,R.K.
  TITLE     Combinatorial PCR approach to homology-based cloning: cloning and
            expression of mouse and human GM3-synthase
  JOURNAL   Glycoconj J 16 (7), 337-350 (1999)
   PUBMED   10619706
REFERENCE   8  (bases 1 to 4366)
  AUTHORS   Fukumoto,S., Miyazaki,H., Goto,G., Urano,T., Furukawa,K. and
            Furukawa,K.
  TITLE     Expression cloning of mouse cDNA of CMP-NeuAc:Lactosylceramide
            alpha2,3-sialyltransferase, an enzyme that initiates the synthesis
            of gangliosides
  JOURNAL   J Biol Chem 274 (14), 9271-9276 (1999)
   PUBMED   10092602
REFERENCE   9  (bases 1 to 4366)
  AUTHORS   Ishii,A., Ohta,M., Watanabe,Y., Matsuda,K., Ishiyama,K., Sakoe,K.,
            Nakamura,M., Inokuchi,J., Sanai,Y. and Saito,M.
  TITLE     Expression cloning and functional characterization of human cDNA
            for ganglioside GM3 synthase
  JOURNAL   J Biol Chem 273 (48), 31652-31655 (1998)
   PUBMED   9822625
REFERENCE   10 (bases 1 to 4366)
  AUTHORS   Cruz,V., Xin,B. and Wang,H.
  TITLE     GM3 Synthase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37471511
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK001340.1, AB018356.1,
            CA503200.1 and AC105053.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003896.3.
            
            Summary: Ganglioside GM3 is known to participate in the induction
            of cell differentiation, modulation of cell proliferation,
            maintenance of fibroblast morphology, signal transduction, and
            integrin-mediated cell adhesion. The protein encoded by this gene
            is a type II membrane protein which catalyzes the formation of GM3
            using lactosylceramide as the substrate. The encoded protein is a
            member of glycosyltransferase family 29 and may be localized to the
            Golgi apparatus. Mutation in this gene has been associated with
            Amish infantile epilepsy syndrome. Transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AB018356.1, SRR3476690.425314.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000638572.2/ ENSP00000491316.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-396               AK001340.1         2-397
            397-2335            AB018356.1         421-2359
            2336-2338           CA503200.1         16-18               c
            2339-4366           AC105053.3         45777-47804         c
FEATURES             Location/Qualifiers
     source          1..4366
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..4366
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="ST3 beta-galactoside alpha-2,3-sialyltransferase 5"
                     /db_xref="GeneID:8869"
                     /db_xref="HGNC:HGNC:10872"
                     /db_xref="MIM:604402"
     exon            1..167
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1342
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /EC_number="2.4.3.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sialyltransferase 9 (CMP-NeuAc:lactosylceramide
                     alpha-2,3-sialyltransferase; GM3 synthase); alpha
                     2,3-sialyltransferase V; ganglioside GM3 synthase; ST3
                     beta-galactoside alpha-23-sialyltransferase 5"
                     /codon_start=1
                     /product="lactosylceramide alpha-2,3-sialyltransferase
                     isoform 1"
                     /protein_id="NP_003887.3"
                     /db_xref="CCDS:CCDS1986.2"
                     /db_xref="GeneID:8869"
                     /db_xref="HGNC:HGNC:10872"
                     /db_xref="MIM:604402"
                     /translation="MRTKAAGCAERRPLQPRTEAAAAPAGRAMPSEYTYVKLRSDCSR
                     PSLQWYTRAQSKMRRPSLLLKDILKCTLLVFGVWILYILKLNYTTEECDMKKMHYVDP
                     DHVKRAQKYAQQVLQKECRPKFAKTSMALLFEHRYSVDLLPFVQKAPKDSEAESKYDP
                     PFGFRKFSSKVQTLLELLPEHDLPEHLKAKTCRRCVVIGSGGILHGLELGHTLNQFDV
                     VIRLNSAPVEGYSEHVGNKTTIRMTYPEGAPLSDLEYYSNDLFVAVLFKSVDFNWLQA
                     MVKKETLPFWVRLFFWKQVAEKIPLQPKHFRILNPVIIKETAFDILQYSEPQSRFWGR
                     DKNVPTIGVIAVVLATHLCDEVSLAGFGYDLNQPRTPLHYFDSQCMAAMNFQTMHNVT
                     TETKFLLKLVKEGVVKDLSGGIDREF"
     exon            168..291
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            292..403
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            404..747
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            748..934
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1093
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..4366
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2319..2324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="hexamer: AATAAA"
     polyA_site      2337
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="major polyA site"
     regulatory      3875..3880
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="hexamer: ATTAAA"
     polyA_site      3901
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
     regulatory      4336..4341
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="hexamer: AATAAA"
     polyA_site      4366
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
ORIGIN      
        1 agctgaatgg gcgcgagagc ggcgctgggg gcgggtgggg gcgcggggta ccgggctggc
       61 ggccggccgg cgccccctca ttagtatgcg gacgaaggcg gcgggctgcg cggagcggcg
      121 tcccctgcag ccgcggaccg aggcagcggc ggcacctgcc ggccgagcaa tgccaagtga
      181 gtacacctat gtgaaactga gaagtgattg ctcgaggcct tccctgcaat ggtacacccg
      241 agctcaaagc aagatgagaa ggcccagctt gttattaaaa gacatcctca aatgtacatt
      301 gcttgtgttt ggagtgtgga tcctttatat cctcaagtta aattatacta ctgaagaatg
      361 tgacatgaaa aaaatgcatt atgtggaccc tgaccatgta aagagagctc agaaatatgc
      421 tcagcaagtc ttgcagaagg aatgtcgtcc caagtttgcc aagacatcaa tggcgctgtt
      481 atttgagcac aggtatagcg tggacttact cccttttgtg cagaaggccc ccaaagacag
      541 tgaagctgag tccaagtacg atcctccttt tgggttccgg aagttctcca gtaaagtcca
      601 gaccctcttg gaactcttgc cagagcacga cctccctgaa cacttgaaag ccaagacctg
      661 tcggcgctgt gtggttattg gaagcggagg aatactgcac ggattagaac tgggccacac
      721 cctgaaccag ttcgatgttg tgataaggtt aaacagtgca ccagttgagg gatattcaga
      781 acatgttgga aataaaacta ctataaggat gacttatcca gagggcgcac cactgtctga
      841 ccttgaatat tattccaatg acttatttgt tgctgtttta tttaagagtg ttgatttcaa
      901 ctggcttcaa gcaatggtaa aaaaggaaac cctgccattc tgggtacgac tcttcttttg
      961 gaagcaggtg gcagaaaaaa tcccactgca gccaaaacat ttcaggattt tgaatccagt
     1021 tatcatcaaa gagactgcct ttgacatcct tcagtactca gagcctcagt caaggttctg
     1081 gggccgagat aagaacgtcc ccacaatcgg tgtcattgcc gttgtcttag ccacacatct
     1141 gtgcgatgaa gtcagtttgg cgggttttgg atatgacctc aatcaaccca gaacaccttt
     1201 gcactacttc gacagtcaat gcatggctgc tatgaacttt cagaccatgc ataatgtgac
     1261 aacggaaacc aagttcctct taaagctggt caaagaggga gtggtgaaag atctcagtgg
     1321 aggcattgat cgtgaatttt gaacacagaa aacctcagtt gaaaatgcaa ctctaactct
     1381 gagagctgtt tttgacagcc ttcttgatgt atttctccat cctgcagata ctttgaagtg
     1441 cagctcatgt ttttaacttt taatttaaaa acacaaaaaa aattttagct cttcccactt
     1501 tttttttcct atttatttga ggtcagtgtt tgtttttgca caccattttg taaatgaaac
     1561 ttaagaattg aattggaaag acttctcaaa gagaattgta tgtaacgatg ttgtattgat
     1621 ttttaagaaa gtaatttaat ttgtaaaact tctgctcgtt tacactgcac attgaataca
     1681 ggtaactaat tggaaggaga ggggaggtca ctcttttgat ggtggccctg aacctcattc
     1741 tggttccctg ctgcgctgct tggtgtgacc cacggaggat ccactcccag gatgacgtgc
     1801 tccgtagctc tgctgctgat actgggtctg cgatgcagcg gcgtgaggcc tgggctggtt
     1861 ggagaaggtc acaacccttc tctgttggtc tgccttctgc tgaaagactc gagaaccaac
     1921 cagggaagct gtcctggagg tccctggtcg gagagggaca tagaatctgt gacctctgac
     1981 aactgtgaag ccaccctggg ctacagaaac cacagtcttc ccagcaatta ttacaattct
     2041 tgaattcctt ggggattttt tactgccctt tcaaagcact taagtgttag atctaacgtg
     2101 ttccagtgtc tgtctgaggt gacttaaaaa atcagaacaa aacttctatt atccagagtc
     2161 atgggagagt acaccctttc caggaataat gttttgggaa acactgaaat gaaatcttcc
     2221 cagtattata aattgtgtat ttaaaaaaaa gaaacttttc tgaatgccta cctggcggtg
     2281 tataccaggc agtgtgccag tttaaaaaga tgaaaaagaa taaaaacttt tgaggaactc
     2341 tcgtagtctg gttaatttgg gtgcttatgt ctatgaatct acccaaaacc tccttcttgg
     2401 atgctgctgc taggcggaga cctctctgtg gatgccagta gtgagggaca gagaattaag
     2461 gcacctggtc ctgcaagctg cttgagtcca gacaactgtg aacccttctg aagagatgct
     2521 gggtgtcggt ggcttcctcc ccaaagacag gctgccccta gcttctgtct cttaatggct
     2581 ctagcctctg atatcagaag atctgctact ctgttcccag cctgccccag actcggctgc
     2641 cgccatcgct gttctccact ctgtggctgc tcttgtcact aatgctacct gcctccactt
     2701 tcccttcctg caactgcttg tgcagcccca gtgcagcctt ggccccagcc cattcgaacg
     2761 tcttcccatc tccctcctcc tcaccatatg cagggccagg agtcaggtca tagcattcaa
     2821 agcagagtcc cttctgtctc ctggggtctg ggatccagct cagagtggcc aggagagcaa
     2881 aagtcatatt tctctcgttt tgtgtcttta cagataattt tgtatgaatt ttatttccta
     2941 ctctataagc tactgcttgt ttaagagaaa atgttttaag attatcaccc atcaaatgag
     3001 tttagaaaat tgagactctg gaagatggtc cacagctccc ttgtggctca ggtggtgctg
     3061 ggcttacacc acacagctcc acccctacat ccctcagggg gttattggag aagccggaac
     3121 ttcctcagac aacgttctta atgctacgag cgcctccttg ctggtatgag gagacttgcc
     3181 tacctgcttc tcaaggctgc tgggatgtgt ggtgctcaaa gcttccactt ggtcagcttg
     3241 cagccattct caggcctgct cccatcccca tccctcctcc ctgtaaggcc cttcttgcat
     3301 ccttaggttg ctttgctcat gtctctcaac ttttacttac tcaggtggta agcagatacc
     3361 ctaaaaaggt atatttttgt agacctttta tagagtccac cagccaatag gagttggctg
     3421 gagatcattc tcaagaactt ttcacacttt ggcattcatt tgttggaagt tgcatcttca
     3481 cttcagagct gtgcccccat tactccccca ccccacacac actcttctga aaacagacct
     3541 ttgctaggtg cctctgggtg ttctaaagtt gatctccagt aactgagaat tcactgccac
     3601 actaacagct ttgtattgca ttctagaccc gcacacacac cctccgacat aaatgaaatc
     3661 actggttctg aggcaactta ggaagactta cacatgttct gtattttaac atgcttctag
     3721 aactttgagc tgcagaaaat ttcagtttta gggtttttta attttaattt ttgattgata
     3781 catagtgatg tgcatatttt gagggtccat gtgataatgt aatacatttg tgtaattata
     3841 aggagcaaat ctgtgtaact gggatatctg tcacattaaa tatttgtctt tatggtagaa
     3901 acatttgaat tattctagtg attttgaaat acacagtaaa ttattgtaaa ctataggcat
     3961 tctactgacc tatcaaacac taggtcttgt ttcttttatc aaactgtatg tttgtaccca
     4021 ttaatcaacc tctcttcatt tccccctacc cttcttggcc tctggtaact accaatctac
     4081 tctctatctt catgagatcc acttttttag ctcctacata ggaatgagaa catgtgatat
     4141 ttgtctttct gtgtttggct tatttcactt aacatcacct ccagttccat ccatcttgct
     4201 gcagataaca tgatttcaac ctttttatgg cagaataata ttccattgtg tatatatacc
     4261 acattttctt tattcattca cccattgatg gacacttagg ttgatttcat gttttggcta
     4321 tgtgaatagc gctgcaataa atatgggagt atagatatat cttcaa
//
