LOCUS       NM_020156               6275 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine
            3-beta-galactosyltransferase 1 (C1GALT1), mRNA.
ACCESSION   NM_020156
VERSION     NM_020156.5
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 6275)
  AUTHORS   Jiang,Y., Wu,J., Guan,F., Liang,L. and Wang,Y.
  TITLE     O-GlcNAcylation determines the function of the key O-GalNAc
            glycosyltransferase C1GalT1 in bladder cancer
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 56 (8), 1108-1117 (2024)
   PUBMED   39126245
  REMARK    GeneRIF: O-GlcNAcylation determines the function of the key
            O-GalNAc glycosyltransferase C1GalT1 in bladder cancer.
REFERENCE   2  (bases 1 to 6275)
  AUTHORS   Watanabe,K., Tasaka,K., Ogata,H., Kato,S., Ueno,H., Umeda,K.,
            Isobe,T., Kubota,Y., Sekiguchi,M., Kimura,S., Sato-Otsubo,A.,
            Hiwatari,M., Ushiku,T., Kato,M., Oka,A., Miyano,S., Ogawa,S. and
            Takita,J.
  TITLE     Inhibition of the galactosyltransferase C1GALT1 reduces
            osteosarcoma cell proliferation by interfering with ERK signaling
            and cell cycle progression
  JOURNAL   Cancer Gene Ther 31 (7), 1049-1059 (2024)
   PUBMED   38622340
  REMARK    GeneRIF: Inhibition of the galactosyltransferase C1GALT1 reduces
            osteosarcoma cell proliferation by interfering with ERK signaling
            and cell cycle progression.
REFERENCE   3  (bases 1 to 6275)
  AUTHORS   Chen,Y., Ji,Y., Shen,L., Li,Y., Ren,Y., Shi,H., Li,Y. and Wu,Y.
  TITLE     High core 1beta1,3-galactosyltransferase 1 expression is associated
            with poor prognosis and promotes cellular radioresistance in lung
            adenocarcinoma
  JOURNAL   J Cancer Res Clin Oncol 150 (4), 214 (2024)
   PUBMED   38662050
  REMARK    GeneRIF: High core 1beta1,3-galactosyltransferase 1 expression is
            associated with poor prognosis and promotes cellular
            radioresistance in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6275)
  AUTHORS   Lin,N.Y., Lee,J.J., Chen,S.T., Lin,J.A., Lin,C.H., Lin,H.Y.,
            Su,Y.H., Chen,C.C., Lin,M.C., Kuo,C.Y. and Huang,M.C.
  TITLE     Truncation of GalNAc-type O-glycans Suppresses CD44-mediated
            Osteoclastogenesis and Bone Metastasis in Breast Cancer
  JOURNAL   Mol Cancer Res 21 (7), 664-674 (2023)
   PUBMED   37040171
  REMARK    GeneRIF: Truncation of GalNAc-type O-glycans Suppresses
            CD44-mediated Osteoclastogenesis and Bone Metastasis in Breast
            Cancer.
REFERENCE   5  (bases 1 to 6275)
  AUTHORS   Tan,Z., Jiang,Y., Liang,L., Wu,J., Cao,L., Zhou,X., Song,Z., Ye,Z.,
            Zhao,Z., Feng,H., Dong,Z., Lin,S., Zhou,Z., Wang,Y., Li,X. and
            Guan,F.
  TITLE     Dysregulation and prometastatic function of glycosyltransferase
            C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in bladder cancer
  JOURNAL   J Exp Clin Cancer Res 41 (1), 228 (2022)
   PUBMED   35864552
  REMARK    GeneRIF: Dysregulation and prometastatic function of
            glycosyltransferase C1GALT1 modulated by cHP1BP3/ miR-1-3p axis in
            bladder cancer.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 6275)
  AUTHORS   Narimatsu,Y., Ikehara,Y., Iwasaki,H., Nonomura,C., Sato,T.,
            Nakanishi,H. and Narimatsu,H.
  TITLE     Immunocytochemical analysis for intracellular dynamics of C1GalT
            associated with molecular chaperone, Cosmc
  JOURNAL   Biochem Biophys Res Commun 366 (1), 199-205 (2008)
   PUBMED   18061573
  REMARK    GeneRIF: These results suggest that the intracellular dynamics of
            C1GalT is controlled by its specific molecular chaperon, Cosmc, in
            association with core 1 synthase activity.
REFERENCE   7  (bases 1 to 6275)
  AUTHORS   Li,G.S., Zhang,H., Lv,J.C., Shen,Y. and Wang,H.Y.
  TITLE     Variants of C1GALT1 gene are associated with the genetic
            susceptibility to IgA nephropathy
  JOURNAL   Kidney Int 71 (5), 448-453 (2007)
   PUBMED   17228361
  REMARK    GeneRIF: The present study suggested that the polymorphisms of
            C1GALT1 gene were associated with the genetic susceptibility to
            IgAN in Chinese population.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 6275)
  AUTHORS   Ju,T. and Cummings,R.D.
  TITLE     Protein glycosylation: chaperone mutation in Tn syndrome
  JOURNAL   Nature 437 (7063), 1252 (2005)
   PUBMED   16251947
  REMARK    GeneRIF: Tn syndrome is associated with a somatic mutation in
            Cosmc, a gene on the X chromosome that encodes a molecular
            'chaperone' that is required for the proper folding and hence full
            activity of T-synthase
REFERENCE   9  (bases 1 to 6275)
  AUTHORS   Ju,T., Brewer,K., D'Souza,A., Cummings,R.D. and Canfield,W.M.
  TITLE     Cloning and expression of human core 1
            beta1,3-galactosyltransferase
  JOURNAL   J Biol Chem 277 (1), 178-186 (2002)
   PUBMED   11677243
REFERENCE   10 (bases 1 to 6275)
  AUTHORS   Amado,M., Almeida,R., Schwientek,T. and Clausen,H.
  TITLE     Identification and characterization of large galactosyltransferase
            gene families: galactosyltransferases for all functions
  JOURNAL   Biochim Biophys Acta 1473 (1), 35-53 (1999)
   PUBMED   10580128
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005532.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 1, 2019 this sequence version replaced NM_020156.4.
            
            Summary: The protein encoded by this gene generates the common core
            1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal
            from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many
            extended mucin-type O-glycans on cell surface and secreted
            glycoproteins. Studies in mice suggest that this gene plays a key
            role in thrombopoiesis and kidney homeostasis.[provided by RefSeq,
            Sep 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            Transcript exon combination :: SRR14038191.2449169.1,
                                           SRR14038196.1857591.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000436587.7/
                                                ENSP00000389176.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-277               AC005532.2         12265-12541
            278-514             AC005532.2         64024-64260
            515-1182            AC005532.2         67976-68643
            1183-6275           AC005532.2         73245-78337
FEATURES             Location/Qualifiers
     source          1..6275
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.1-p21.3"
     gene            1..6275
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /note="core 1 synthase, glycoprotein-N-acetylgalactosamine
                     3-beta-galactosyltransferase 1"
                     /db_xref="GeneID:56913"
                     /db_xref="HGNC:HGNC:24337"
                     /db_xref="MIM:610555"
     exon            1..277
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /inference="alignment:Splign:2.1.0"
     exon            278..514
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /inference="alignment:Splign:2.1.0"
     CDS             295..1386
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /EC_number="2.4.1.122"
                     /note="core 1 UDP-galactose:N-acetylgalactosamine-alpha-R
                     beta 1,3-galactosyltransferase 1; B3Gal-T8; core 1
                     beta3-Gal-T1; core 1 O-glycan T-synthase; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="glycoprotein-N-acetylgalactosamine
                     3-beta-galactosyltransferase 1"
                     /protein_id="NP_064541.1"
                     /db_xref="CCDS:CCDS5355.1"
                     /db_xref="GeneID:56913"
                     /db_xref="HGNC:HGNC:24337"
                     /db_xref="MIM:610555"
                     /translation="MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHN
                     DPHARHSDDNGQNHLEGQMNFNADSSQHKDENTDIAENLYQKVRILCWVMTGPQNLEK
                     KAKHVKATWAQRCNKVLFMSSEENKDFPAVGLKTKEGRDQLYWKTIKAFQYVHEHYLE
                     DADWFLKADDDTYVILDNLRWLLSKYDPEEPIYFGRRFKPYVKQGYMSGGAGYVLSKE
                     ALKRFVDAFKTDKCTHSSSIEDLALGRCMEIMNVEAGDSRDTIGKETFHPFVPEHHLI
                     KGYLPRTFWYWNYNYYPPVEGPGCCSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYR
                     YQPTLPERILKEISQANKNEDTKVKLGNP"
     exon            515..1182
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..6275
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1987..1992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /note="hexamer: AATAAA"
     polyA_site      2009
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /note="major polyA site"
     regulatory      6256..6261
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /note="hexamer: AATAAA"
     polyA_site      6275
                     /gene="C1GALT1"
                     /gene_synonym="C1GALT; T-synthase"
                     /note="major polyA site"
ORIGIN      
        1 aggagacttc gggtggcggc tgcgccatag gcgggccacg gcctggacgc gctgcgggga
       61 ggggcggagc gagcgggcgg gagcgcgcgc tgggcccgcc ttggccgccg ccgctgtgct
      121 gccgctgccg gggaataatc tgggcggcag cgggcggcct cggctagcgg ccacgagcca
      181 cttctgcggc tgcccagaga agcaaaggtc accagtccca agtcgtcccc ctctccgccc
      241 cccaggaggg gcgagaggga gccgcagctg atgtcagaaa tacactttcg ggaaatggcc
      301 tctaaatcct ggctgaattt tttaaccttc ctctgtggat cagcaatagg atttctttta
      361 tgttctcagc tatttagtat tttgttggga gaaaaggttg acacccagcc taatgttctt
      421 cataatgatc ctcatgcaag gcattcagat gataatggac agaatcatct agaaggacaa
      481 atgaacttca atgcagattc tagccaacat aaagatgaga acacagacat tgctgaaaac
      541 ctctatcaga aagttagaat tctttgctgg gttatgaccg gccctcaaaa cctagagaaa
      601 aaggccaaac acgtcaaagc tacttgggcc cagcgttgta acaaagtgtt gtttatgagt
      661 tcagaagaaa ataaagactt ccctgctgtg ggactgaaaa ccaaagaagg cagagatcaa
      721 ctatactgga aaacaattaa agcttttcag tatgttcatg aacattattt agaagatgct
      781 gattggtttt tgaaagcaga tgatgacacg tatgtcatac tagacaattt gaggtggctt
      841 ctttcaaaat acgaccctga agaacccatt tactttggga gaagatttaa gccttatgta
      901 aagcagggct acatgagtgg aggagcagga tatgtactaa gcaaagaagc cttgaaaaga
      961 tttgttgatg catttaaaac agacaagtgt acacatagtt cctccattga agacttagca
     1021 ctggggagat gcatggaaat tatgaatgta gaagcaggag attccagaga taccattgga
     1081 aaagaaactt ttcatccctt tgtgccagaa caccatttaa ttaaaggtta tctacctaga
     1141 acgttttggt actggaatta caactattat cctcctgtag agggtcctgg ttgctgctct
     1201 gatcttgcag tttcttttca ctatgttgat tctacaacca tgtatgagtt agaatacctc
     1261 gtttatcatc ttcgtccata tggttattta tacagatatc aacctacctt acctgaacgt
     1321 atactaaagg aaattagtca agcaaacaaa aatgaagata caaaagtgaa gttaggaaat
     1381 ccttgaaaga aaatcatgaa tgaacaaagg taatatgtct agcactgcac tgaaaaagga
     1441 cttctgcatt tctgacatag aacactggaa tcccagtgag gaattctaag tgaacattcc
     1501 ttatagaaac ctttcacatg aatgactata aactgaagct ttaaatgagc tgtgaagtgt
     1561 gttaaaatgt gttttgatac agtaatatat aaatatgtct atatatatga ggaacttgtg
     1621 ttttttaaat ggtggccagg tagaggaact agaaaagaga ttttgttgcc tgttttctga
     1681 ccatctgtgt tattgtcact gagaaactaa aatagtaaat ttactaaaac tacactgcac
     1741 catgttagta ataaacagat ctgccttaaa gaaaagaaaa ttttagaaag aaatattgtt
     1801 gctcagtgtt gttaatatag ctcaagaatt gagtttatat ttgcagtatg ctataaatga
     1861 taccccccta ccacacccac acacacagtt tttgtctaat gaaaatgttg ctgtgattat
     1921 ttataattgg tagtatttct tccagaagaa gctaaaataa gactggcact taccctgaag
     1981 tgcattaata aaaccacact ttaaaattat catgggcctt gactatatta tatacttgat
     2041 tctaattagt catcttttac gcaatctctg ttgtctcttt tctaaatgtg tttagccact
     2101 cttgaatacc attctccact attaacatta atttactcaa accgttcata gcattctgta
     2161 aacatgtatt ttacatattt gttcccaaat ttgcccattg ttcattatgg gtaactaata
     2221 ataaatttaa tgctgtttca ggatgctttt cttataacag tgccactctc aggaattact
     2281 aagtgacatt ttaaattgat attttaaact ctttccaact acatagttat ggtttatttc
     2341 attctcatcc tgttgggatg agaacttgtt tgtgcctttc ataacttgtt taaagcagag
     2401 ttttaaaatt agtttatagg atctgaggtg gctattagtt acagtggcaa gattatttag
     2461 aaagcaagat tttgatgaga attaaaaaca atagaaaatg tagagtgctt aaacaaaaat
     2521 gttatatttt gaaagagtag atacttaatt tataaataac agtctgaagg ttggtgctat
     2581 tttgggataa ttgttttgct aatggataat tctaacaatg cagaatacct agtcaagact
     2641 gtcatcaaaa acattcacaa atgtttcatt ctatttttag tgactctgtt taaagagttt
     2701 ctgaaaggaa agaaattttt tatttttatt atctttagca gtactgagtg tcatagcaga
     2761 atattttaca gactttctat gagattattt ttatggtaca aagtatttac atttccctca
     2821 tgtttatcat tatgccaatt ttacatggca gtcatgccac tgactctgct atttagctaa
     2881 gtaatttctt ttttcggaga ctgtctcact ctgtctccca ggctggactg cagtggtgcg
     2941 attctcctgc ctcagcctcc cgagtagcgg ggattacagg cacgcgctgc cacgccccgc
     3001 cagttttcat atttttagta gagacagggt tttgccgtgt tggccaggct ggtcttgaac
     3061 tcctgacctc aggtgatcca cccaccttgg catcccaaag tgctgggatt acgagcgtga
     3121 gtcacagcac ccggctaagt aatttctatt tattgtgcca aaacatgtca aaatcatgac
     3181 ctctttgaat ggtatatttg agaggatgtt catttcattg gttaaccatg gactactctg
     3241 tccacgtagt gaaaacatgc accagttttt acctattatc atggtagtat catctgccaa
     3301 aatttcaagg cattcatttt attctttgaa caactcttca ccatggtgtg gacatgaatt
     3361 ttcatatgtg ttacttgact agaagtataa atggtttact atagatatcc aaaaaccttg
     3421 agatttgctc ataggaaatg aatattgtga tgaatcctgg gctctagagt cagacttgct
     3481 tgggtttaaa ttcttgctct aacacttact gtttttgtaa ccttgagcaa ttttaatctc
     3541 tctgtgtctc aatttcctca tcttttaatt agggatgata atactaccta cctcacagga
     3601 tttttatgag gattaaataa atgtaaggtt tttagaacat tgatagggag caataaatag
     3661 aagattgtat tattattctg ttaccttgga gtgtaagtac tgcatttaag tgaatgaaaa
     3721 atttgctttg accagatact gaaggaaata agtaatagct agtatttatc caatgccaac
     3781 tgtatgctag gtactgtgct tagataatct gtgtataata gtgttaatcc tcaaaatttg
     3841 ggtgttatac ccctattata gataaggaaa ctgaggctca gagacaaagt aactttgtca
     3901 ctgtcacaaa gctagtaagt aacagaggta ggatttatat tcaaaaccct gtgtgttcat
     3961 tggaaccgta tcaggcttgg ggctattcat gtagcattat ttccattttt atgtatatga
     4021 tatatgacgt ctgatgcatt ggccagtaat agtcaaatta acccagccaa attgtcacag
     4081 tgattcttaa actgtggttc tcacacttgc ccaggatgtt gttaaatgca gatctgaaga
     4141 ccccaatctc agaaattcaa atttaagcat ggggcccaag agtatgcatt cttaccagat
     4201 accttgggca gtgactgtca aaagtctggt cccaacaaac agcattaacg tcacctggga
     4261 acttgttgga aatgcagcct ctctcggggc ctcatctcag atcagatcta ctaaatcaga
     4321 tactctaggg gcaggggcag gggcaggggc tagcagttgt gtttaagcaa actctgcagg
     4381 tgtctttctt atcctagttt gagaaccaat acccaacaac ctacgtgatt ttggtgcaag
     4441 tagtgtttga aacacactga agattactgc ccaattacta agacattttt caaaaagcat
     4501 gttttaaatc agtgtagtcc aggatcacac tatattaaat ataaagataa cttaaaggat
     4561 cattggatca ttcattttgg ccaaattttt agcttctcca aagtgactaa catcagggcc
     4621 tacaataaaa tctgtaattc tccaagttta gtaattttat attgaggcag gaagggctca
     4681 ttaagtacta ataagtacat aatttattaa aaacatacat aagtgtcatc aaaaaggtcc
     4741 acaattgtta gtaaaaaaaa ttaaattgaa gtagtaaatg ctgttttata acatacattt
     4801 ttctgctaat tcattctgtt ttgtgtgacc taataaagca aaagaaaaat aaaaaagcaa
     4861 ttctccaagt acttcataga gcacataaaa ccagatttca tgatgatgat gtattcacta
     4921 tcttttagat taagatcttt gttatttggt aaatgatttc agtatggttt taaaacataa
     4981 ggcttttgat gtcttatgtt ctctaataat ggtatgcttg tattttctag tgggaagttc
     5041 atagataaag cagatttttg tcccagtttg ctttcaaata taaatttcag agggcttttt
     5101 cttactgtaa tgaggtatga aaataaatca ttgatcagct cttaatattt tttgaataca
     5161 gaattggatt tgagcagtaa atttgctaac tggttatttt cacaattttc ttgaatatta
     5221 atttttcact tctttgagac tgtcaaacta tagttactac caggttgatg cactgtactt
     5281 gaaagaatcc cttgattaaa ttacatctag cattttattt gccatttcaa ttttcagttc
     5341 attagactat aattctttga cagtttctgc ctggtgttta ttgcccttct ttgtttgctt
     5401 tattactaac ttccattttc tagttactct taaatgctgc cttcacaagg ttaatttggc
     5461 tgttaatagt gattagaatt tttatcactt aattgataat tttaagccta ctaactaggg
     5521 ttccctatga aattgaaagt aaaagtctaa gaataatgcc tgctggctct cgagatactt
     5581 gccctactta aaaatctata atttaaaatt aattctatgt ctacaattat taaaggaagt
     5641 aaagttattt gggttcttcc actcaccctt ttctcaaaaa caacaacaaa aaacaaaact
     5701 cattttattt ttctacttta tagtaggcct gacagaaaca tagtgaagca atctgggagg
     5761 caacctgtgg tagattttat gctaaatgtt aatgtaacct ctgttgattt tttaaaaatg
     5821 tgtttatata taagatttga aataaaaact ttaatacagg ctagaataag gaattttaca
     5881 aattctcttt agagcaacca acattaaagt tttagagttg aattttgctc tatttcaact
     5941 cccttacctc tctagttttc agtttatatt aagttttaat aactttgcgg ggccctgcaa
     6001 attaataatc tacatgaagt atattattag agggaaacta atcttactgc taagcagtgt
     6061 gttgtactac atagtgaatg ttcgtgtttt ggaatttaaa aattatttaa ggtaatggtg
     6121 ttacgaatgg tttaaaaatg tctggtgact tgcttatttt taagtgatca ccattaagtc
     6181 agaaaaatgt atttttaaat gtttcttgaa gtgccttttg aacattttta aacagcggat
     6241 ttaaataatg cataaaataa attgccatgt tcaaa
//
