LOCUS       NM_001042437            4265 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5
            (ST3GAL5), transcript variant 2, mRNA.
ACCESSION   NM_001042437
VERSION     NM_001042437.2
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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 4265)
  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 AY152815.2 and AC105053.3.
            
            On May 31, 2019 this sequence version replaced NM_001042437.1.
            
            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 (2) has a novel 5' exon compared
            to transcript variant 1, and encodes a shorter isoform (2) with a
            different N-terminus compared to 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 :: AY152815.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2236              AY152815.2         1-2236
            2237-4265           AC105053.3         45777-47805         c
FEATURES             Location/Qualifiers
     source          1..4265
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..4265
                     /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..66
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..1241
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /EC_number="2.4.3.9"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001035902.1"
                     /db_xref="CCDS:CCDS42705.1"
                     /db_xref="GeneID:8869"
                     /db_xref="HGNC:HGNC:10872"
                     /db_xref="MIM:604402"
                     /translation="MASVPMPSEYTYVKLRSDCSRPSLQWYTRAQSKMRRPSLLLKDI
                     LKCTLLVFGVWILYILKLNYTTEECDMKKMHYVDPDHVKRAQKYAQQVLQKECRPKFA
                     KTSMALLFEHRYSVDLLPFVQKAPKDSEAESKYDPPFGFRKFSSKVQTLLELLPEHDL
                     PEHLKAKTCRRCVVIGSGGILHGLELGHTLNQFDVVIRLNSAPVEGYSEHVGNKTTIR
                     MTYPEGAPLSDLEYYSNDLFVAVLFKSVDFNWLQAMVKKETLPFWVRLFFWKQVAEKI
                     PLQPKHFRILNPVIIKETAFDILQYSEPQSRFWGRDKNVPTIGVIAVVLATHLCDEVS
                     LAGFGYDLNQPRTPLHYFDSQCMAAMNFQTMHNVTTETKFLLKLVKEGVVKDLSGGID
                     REF"
     exon            67..190
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            191..302
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            303..646
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            647..833
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            834..992
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     exon            993..4265
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2218..2223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="hexamer: AATAAA"
     polyA_site      2236
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="major polyA site"
     regulatory      3774..3779
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="hexamer: ATTAAA"
     polyA_site      3800
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
     regulatory      4235..4240
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
                     /note="hexamer: AATAAA"
     polyA_site      4265
                     /gene="ST3GAL5"
                     /gene_synonym="SATI; SIAT9; SIATGM3S; SPDRS; ST3Gal V;
                     ST3GalV"
ORIGIN      
        1 ctggggagta atagcatggg caaccattat cctgtctcgc cgccacccag gacatggctt
       61 ctgttccaat gccaagtgag tacacctatg tgaaactgag aagtgattgc tcgaggcctt
      121 ccctgcaatg gtacacccga gctcaaagca agatgagaag gcccagcttg ttattaaaag
      181 acatcctcaa atgtacattg cttgtgtttg gagtgtggat cctttatatc ctcaagttaa
      241 attatactac tgaagaatgt gacatgaaaa aaatgcatta tgtggaccct gaccatgtaa
      301 agagagctca gaaatatgct cagcaagtct tgcagaagga atgtcgtccc aagtttgcca
      361 agacatcaat ggcgctgtta tttgagcaca ggtatagcgt ggacttactc ccttttgtgc
      421 agaaggcccc caaagacagt gaagctgagt ccaagtacga tcctcctttt gggttccgga
      481 agttctccag taaagtccag accctcttgg aactcttgcc agagcacgac ctccctgaac
      541 acttgaaagc caagacctgt cggcgctgtg tggttattgg aagcggagga atactgcacg
      601 gattagaact gggccacacc ctgaaccagt tcgatgttgt gataaggtta aacagtgcac
      661 cagttgaggg atattcagaa catgttggaa ataaaactac tataaggatg acttatccag
      721 agggcgcacc actgtctgac cttgaatatt attccaatga cttatttgtt gctgttttat
      781 ttaagagtgt tgatttcaac tggcttcaag caatggtaaa aaaggaaacc ctgccattct
      841 gggtacgact cttcttttgg aagcaggtgg cagaaaaaat cccactgcag ccaaaacatt
      901 tcaggatttt gaatccagtt atcatcaaag agactgcctt tgacatcctt cagtactcag
      961 agcctcagtc aaggttctgg ggccgagata agaacgtccc cacaatcggt gtcattgccg
     1021 ttgtcttagc cacacatctg tgcgatgaag tcagtttggc gggttttgga tatgacctca
     1081 atcaacccag aacacctttg cactacttcg acagtcaatg catggctgct atgaactttc
     1141 agaccatgca taatgtgaca acggaaacca agttcctctt aaagctggtc aaagagggag
     1201 tggtgaaaga tctcagtgga ggcattgatc gtgaattttg aacacagaaa acctcagttg
     1261 aaaatgcaac tctaactctg agagctgttt ttgacagcct tcttgatgta tttctccatc
     1321 ctgcagatac tttgaagtgc agctcatgtt tttaactttt aatttaaaaa cacaaaaaaa
     1381 attttagctc ttcccacttt ttttttccta tttatttgag gtcagtgttt gtttttgcac
     1441 accattttgt aaatgaaact taagaattga attggaaaga cttctcaaag agaattgtat
     1501 gtaacgatgt tgtattgatt tttaagaaag taatttaatt tgtaaaactt ctgctcgttt
     1561 acactgcaca ttgaatacag gtaactaatt ggaaggagag gggaggtcac tcttttgatg
     1621 gtggccctga acctcattct ggttccctgc tgcgctgctt ggtgtgaccc acggaggatc
     1681 cactcccagg atgacgtgct ccgtagctct gctgctgata ctgggtctgc gatgcagcgg
     1741 cgtgaggcct gggctggttg gagaaggtca caacccttct ctgttggtct gccttctgct
     1801 gaaagactcg agaaccaacc agggaagctg tcctggaggt ccctggtcgg agagggacat
     1861 agaatctgtg acctctgaca actgtgaagc caccctgggc tacagaaacc acagtcttcc
     1921 cagcaattat tacaattctt gaattccttg gggatttttt actgcccttt caaagcactt
     1981 aagtgttaga tctaacgtgt tccagtgtct gtctgaggtg acttaaaaaa tcagaacaaa
     2041 acttctatta tccagagtca tgggagagta caccctttcc aggaataatg ttttgggaaa
     2101 cactgaaatg aaatcttccc agtattataa attgtgtatt taaaaaaaag aaacttttct
     2161 gaatgcctac ctggcggtgt ataccaggca gtgtgccagt ttaaaaagat gaaaaagaat
     2221 aaaaactttt gaggaactct cgtagtctgg ttaatttggg tgcttatgtc tatgaatcta
     2281 cccaaaacct ccttcttgga tgctgctgct aggcggagac ctctctgtgg atgccagtag
     2341 tgagggacag agaattaagg cacctggtcc tgcaagctgc ttgagtccag acaactgtga
     2401 acccttctga agagatgctg ggtgtcggtg gcttcctccc caaagacagg ctgcccctag
     2461 cttctgtctc ttaatggctc tagcctctga tatcagaaga tctgctactc tgttcccagc
     2521 ctgccccaga ctcggctgcc gccatcgctg ttctccactc tgtggctgct cttgtcacta
     2581 atgctacctg cctccacttt cccttcctgc aactgcttgt gcagccccag tgcagccttg
     2641 gccccagccc attcgaacgt cttcccatct ccctcctcct caccatatgc agggccagga
     2701 gtcaggtcat agcattcaaa gcagagtccc ttctgtctcc tggggtctgg gatccagctc
     2761 agagtggcca ggagagcaaa agtcatattt ctctcgtttt gtgtctttac agataatttt
     2821 gtatgaattt tatttcctac tctataagct actgcttgtt taagagaaaa tgttttaaga
     2881 ttatcaccca tcaaatgagt ttagaaaatt gagactctgg aagatggtcc acagctccct
     2941 tgtggctcag gtggtgctgg gcttacacca cacagctcca cccctacatc cctcaggggg
     3001 ttattggaga agccggaact tcctcagaca acgttcttaa tgctacgagc gcctccttgc
     3061 tggtatgagg agacttgcct acctgcttct caaggctgct gggatgtgtg gtgctcaaag
     3121 cttccacttg gtcagcttgc agccattctc aggcctgctc ccatccccat ccctcctccc
     3181 tgtaaggccc ttcttgcatc cttaggttgc tttgctcatg tctctcaact tttacttact
     3241 caggtggtaa gcagataccc taaaaaggta tatttttgta gaccttttat agagtccacc
     3301 agccaatagg agttggctgg agatcattct caagaacttt tcacactttg gcattcattt
     3361 gttggaagtt gcatcttcac ttcagagctg tgcccccatt actcccccac cccacacaca
     3421 ctcttctgaa aacagacctt tgctaggtgc ctctgggtgt tctaaagttg atctccagta
     3481 actgagaatt cactgccaca ctaacagctt tgtattgcat tctagacccg cacacacacc
     3541 ctccgacata aatgaaatca ctggttctga ggcaacttag gaagacttac acatgttctg
     3601 tattttaaca tgcttctaga actttgagct gcagaaaatt tcagttttag ggttttttaa
     3661 ttttaatttt tgattgatac atagtgatgt gcatattttg agggtccatg tgataatgta
     3721 atacatttgt gtaattataa ggagcaaatc tgtgtaactg ggatatctgt cacattaaat
     3781 atttgtcttt atggtagaaa catttgaatt attctagtga ttttgaaata cacagtaaat
     3841 tattgtaaac tataggcatt ctactgacct atcaaacact aggtcttgtt tcttttatca
     3901 aactgtatgt ttgtacccat taatcaacct ctcttcattt ccccctaccc ttcttggcct
     3961 ctggtaacta ccaatctact ctctatcttc atgagatcca cttttttagc tcctacatag
     4021 gaatgagaac atgtgatatt tgtctttctg tgtttggctt atttcactta acatcacctc
     4081 cagttccatc catcttgctg cagataacat gatttcaacc tttttatggc agaataatat
     4141 tccattgtgt atatatacca cattttcttt attcattcac ccattgatgg acacttaggt
     4201 tgatttcatg ttttggctat gtgaatagcg ctgcaataaa tatgggagta tagatatatc
     4261 ttcaa
//
