LOCUS       NM_001354483            3701 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase
            1 (CSGALNACT1), transcript variant 9, mRNA.
ACCESSION   NM_001354483 XM_006716362
VERSION     NM_001354483.2
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 3701)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3701)
  AUTHORS   Mizumoto,S., Janecke,A.R., Sadeghpour,A., Povysil,G.,
            McDonald,M.T., Unger,S., Greber-Platzer,S., Deak,K.L., Katsanis,N.,
            Superti-Furga,A., Sugahara,K., Davis,E.E., Yamada,S. and
            Vodopiutz,J.
  TITLE     CSGALNACT1-congenital disorder of glycosylation: A mild skeletal
            dysplasia with advanced bone age
  JOURNAL   Hum Mutat 41 (3), 655-667 (2020)
   PUBMED   31705726
  REMARK    GeneRIF: CSGALNACT1-congenital disorder of glycosylation: A mild
            skeletal dysplasia with advanced bone age.
REFERENCE   3  (bases 1 to 3701)
  AUTHORS   Hu,B., Xu,C., Tian,Y., Shi,C., Zhang,Y., Deng,L., Zhou,H., Cao,P.,
            Chen,H. and Yuan,W.
  TITLE     Inflammatory microRNA-194 and -515 attenuate the biosynthesis of
            chondroitin sulfate during human intervertebral disc degeneration
  JOURNAL   Oncotarget 8 (30), 49303-49317 (2017)
   PUBMED   28514734
REFERENCE   4  (bases 1 to 3701)
  AUTHORS   Vodopiutz,J., Mizumoto,S., Lausch,E., Rossi,A., Unger,S.,
            Janocha,N., Costantini,R., Seidl,R., Greber-Platzer,S., Yamada,S.,
            Muller,T., Jilma,B., Ganger,R., Superti-Furga,A., Ikegawa,S.,
            Sugahara,K. and Janecke,A.R.
  TITLE     Chondroitin Sulfate N-acetylgalactosaminyltransferase-1
            (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and
            Joint Laxity
  JOURNAL   Hum Mutat 38 (1), 34-38 (2017)
   PUBMED   27599773
REFERENCE   5  (bases 1 to 3701)
  AUTHORS   Saigoh,K., Yoshimura,S., Izumikawa,T., Miyata,S., Tabara,Y.,
            Matsushita,T., Miki,T., Miyamoto,K., Hirano,M., Kitagawa,H.,
            Kira,J. and Kusunoki,S.
  TITLE     Chondroitin sulfate beta-1,4-N-acetylgalactosaminyltransferase-1
            (ChGn-1) polymorphism: Association with progression of multiple
            sclerosis
  JOURNAL   Neurosci Res 108, 55-59 (2016)
   PUBMED   26806424
  REMARK    GeneRIF: In men, patients who had multiple sclerosis (MS) with
            S126L had a slower disease progression. This cSNP might be
            associated with the sex differences in clinical course of MS.
REFERENCE   6  (bases 1 to 3701)
  AUTHORS   Ritelli,M., Chiarelli,N., Zoppi,N., Dordoni,C., Quinzani,S.,
            Traversa,M., Venturini,M., Calzavara-Pinton,P. and Colombi,M.
  TITLE     Insights in the etiopathology of galactosyltransferase II (GalT-II)
            deficiency from transcriptome-wide expression profiling of skin
            fibroblasts of two sisters with compound heterozygosity for two
            novel B3GALT6 mutations
  JOURNAL   Mol Genet Metab Rep 2, 1-15 (2014)
   PUBMED   28649518
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3701)
  AUTHORS   Sato,T., Gotoh,M., Kiyohara,K., Akashima,T., Iwasaki,H.,
            Kameyama,A., Mochizuki,H., Yada,T., Inaba,N., Togayachi,A.,
            Kudo,T., Asada,M., Watanabe,H., Imamura,T., Kimata,K. and
            Narimatsu,H.
  TITLE     Differential roles of two N-acetylgalactosaminyltransferases,
            CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and
            elongation in synthesis of chondroitin sulfate
  JOURNAL   J Biol Chem 278 (5), 3063-3071 (2003)
   PUBMED   12446672
  REMARK    GeneRIF: plays a role in the initiation and elongation in the
            synthesis of chondroitin sulfate
REFERENCE   8  (bases 1 to 3701)
  AUTHORS   Gotoh,M., Sato,T., Akashima,T., Iwasaki,H., Kameyama,A.,
            Mochizuki,H., Yada,T., Inaba,N., Zhang,Y., Kikuchi,N., Kwon,Y.D.,
            Togayachi,A., Kudo,T., Nishihara,S., Watanabe,H., Kimata,K. and
            Narimatsu,H.
  TITLE     Enzymatic synthesis of chondroitin with a novel chondroitin sulfate
            N-acetylgalactosaminyltransferase that transfers
            N-acetylgalactosamine to glucuronic acid in initiation and
            elongation of chondroitin sulfate synthesis
  JOURNAL   J Biol Chem 277 (41), 38189-38196 (2002)
   PUBMED   12163485
  REMARK    GeneRIF: These results suggest that this enzyme has
            N-acetylgalactosaminyltransferase activity in both the elongation
            and initiation of chondroitin sulfate synthesis.
REFERENCE   9  (bases 1 to 3701)
  AUTHORS   Uyama,T., Kitagawa,H., Tamura Ji,J. and Sugahara,K.
  TITLE     Molecular cloning and expression of human chondroitin
            N-acetylgalactosaminyltransferase: the key enzyme for chain
            initiation and elongation of chondroitin/dermatan sulfate on the
            protein linkage region tetrasaccharide shared by heparin/heparan
            sulfate
  JOURNAL   J Biol Chem 277 (11), 8841-8846 (2002)
   PUBMED   11788602
REFERENCE   10 (bases 1 to 3701)
  AUTHORS   Kitagawa,H., Uyama,T. and Sugahara,K.
  TITLE     Molecular cloning and expression of a human chondroitin synthase
  JOURNAL   J Biol Chem 276 (42), 38721-38726 (2001)
   PUBMED   11514575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY140335.1, AC116376.4,
            AC090786.6 and BQ016671.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001354483.1.
            
            Summary: This gene encodes an enzyme that transfers
            N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and
            to elongating chondroitin sulfate chains in proteoglycans. Knockout
            of the orthologous mouse gene indicates that the protein is
            necessary for normal cartilage development and aggrecan metabolism.
            Mutations in this gene are associated with multiple sclerosis
            progression, and with mild skeletal dysplasia and joint laxity.
            [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (9) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 4 through 23 all encode the same
            protein.
            
            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##
            Transcript exon combination :: SRR11853561.26976.1,
                                           SRR18074967.3497635.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000692225.2/ ENSP00000509853.1
            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
            1-92                HY140335.1         30-121
            93-187              AC116376.4         44067-44161         c
            188-1117            AC090786.6         116270-117199       c
            1118-1334           AC090786.6         69495-69711         c
            1335-1436           AC090786.6         50899-51000         c
            1437-1615           AC090786.6         31409-31587         c
            1616-1710           AC090786.6         29725-29819         c
            1711-1792           AC090786.6         19682-19763         c
            1793-3139           AC090786.6         15792-17138         c
            3140-3701           BQ016671.1         18-579              c
FEATURES             Location/Qualifiers
     source          1..3701
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..3701
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /note="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 1"
                     /db_xref="GeneID:55790"
                     /db_xref="HGNC:HGNC:24290"
                     /db_xref="MIM:616615"
     exon            1..92
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            93..187
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            188..1117
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     CDS             484..2082
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /EC_number="2.4.1.174"
                     /note="chondroitin beta1,4
                     N-acetylgalactosaminyltransferase; beta4GalNAcT-1;
                     chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1;
                     glucuronylgalactosylproteoglycan 4-beta-N-
                     acetylgalactosaminyltransferase"
                     /codon_start=1
                     /product="chondroitin sulfate
                     N-acetylgalactosaminyltransferase 1"
                     /protein_id="NP_001341412.1"
                     /db_xref="CCDS:CCDS6010.1"
                     /db_xref="GeneID:55790"
                     /db_xref="HGNC:HGNC:24290"
                     /db_xref="MIM:616615"
                     /translation="MMMVRRGLLAWISRVVVLLVLLCCAISVLYMLACTPKGDEEQLA
                     LPRANSPTGKEGYQAVLQEWEEQHRNYVSSLKRQIAQLKEELQERSEQLRNGQYQASD
                     AAGLGLDRSPPEKTQADLLAFLHSQVDKAEVNAGVKLATEYAAVPFDSFTLQKVYQLE
                     TGLTRHPEEKPVRKDKRDELVEAIESALETLNSPAENSPNHRPYTASDFIEGIYRTER
                     DKGTLYELTFKGDHKHEFKRLILFRPFGPIMKVKNEKLNMANTLINVIVPLAKRVDKF
                     RQFMQNFREMCIEQDGRVHLTVVYFGKEEINEVKGILENTSKAANFRNFTFIQLNGEF
                     SRGKGLDVGARFWKGSNVLLFFCDVDIYFTSEFLNTCRLNTQPGKKVFYPVLFSQYNP
                     GIIYGHHDAVPPLEQQLVIKKETGFWRDFGFGMTCQYRSDFINIGGFDLDIKGWGGED
                     VHLYRKYLHSNLIVVRTPVRGLFHLWHEKRCMDELTPEQYKMCMQSKAMNEASHGQLG
                     MLVFRHEIEAHLRKQKQKTSSKKT"
     exon            1118..1334
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1436
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1615
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1710
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            1711..1792
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..3701
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3430..3435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /note="hexamer: AATAAA"
     polyA_site      3450
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
     regulatory      3677..3682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /note="hexamer: AATAAA"
     polyA_site      3701
                     /gene="CSGALNACT1"
                     /gene_synonym="beta4GalNAcT; ChGn; ChGn-1; CSGalNAcT-1;
                     SDJLABA"
                     /note="major polyA site"
ORIGIN      
        1 ggagccgagt ccgcggcggc cgcgcaggag ggaaagttca gcgacggcgg cagcggccgg
       61 agccgggccg ggcagctagc agggcgcttc ggctgccttc ctatttcaag gaaagacgcc
      121 aaggtaattt tgacccagag gagcaatgat gtagccacct cctaaccttc ccttcttgaa
      181 cccccaggtc ccctcttgct gttggctgca catcaggaag gctgtgatgg gaatgaaggt
      241 gaaaacttgg agatttcact tcagtcattg cttctgcctg caagatcatc ctttaaaagt
      301 agagaagctg ctctgtgtgg tggttaactc caagaggcag aactcgttct agaaggaaat
      361 ggatgcaagc agctccgggg gccccaaacg catgcttcct gtggtctagc ccagggaagc
      421 ccttccgtgg gggccccggc tttgagggat gccaccggtt ctggacgcat ggctgattcc
      481 tgaatgatga tggttcgccg ggggctgctt gcgtggattt cccgggtggt ggttttgctg
      541 gtgctcctct gctgtgctat ctctgtcctg tacatgttgg cctgcacccc aaaaggtgac
      601 gaggagcagc tggcactgcc cagggccaac agccccacgg ggaaggaggg gtaccaggcc
      661 gtccttcagg agtgggagga gcagcaccgc aactacgtga gcagcctgaa gcggcagatc
      721 gcacagctca aggaggagct gcaggagagg agtgagcagc tcaggaatgg gcagtaccaa
      781 gccagcgatg ctgctggcct gggtctggac aggagccccc cagagaaaac ccaggccgac
      841 ctcctggcct tcctgcactc gcaggtggac aaggcagagg tgaatgctgg cgtcaagctg
      901 gccacagagt atgcagcagt gcctttcgat agctttactc tacagaaggt gtaccagctg
      961 gagactggcc ttacccgcca ccccgaggag aagcctgtga ggaaggacaa gcgggatgag
     1021 ttggtggaag ccattgaatc agccttggag accctgaaca gtcctgcaga gaacagcccc
     1081 aatcaccgtc cttacacggc ctctgatttc atagaaggga tctaccgaac agaaagggac
     1141 aaagggacat tgtatgagct caccttcaaa ggggaccaca aacacgaatt caaacggctc
     1201 atcttatttc gaccattcgg ccccatcatg aaagtgaaaa atgaaaagct caacatggcc
     1261 aacacgctta tcaatgttat cgtgcctcta gcaaaaaggg tggacaagtt ccggcagttc
     1321 atgcagaatt tcagggagat gtgcattgag caggatggga gagtccatct cactgttgtt
     1381 tactttggga aagaagaaat aaatgaagtc aaaggaatac ttgaaaacac ttccaaagct
     1441 gccaacttca ggaactttac cttcatccag ctgaatggag aattttctcg gggaaaggga
     1501 cttgatgttg gagcccgctt ctggaaggga agcaacgtcc ttctcttttt ctgtgatgtg
     1561 gacatctact tcacatctga attcctcaat acgtgtaggc tgaatacaca gccagggaag
     1621 aaggtatttt atccagttct tttcagtcag tacaatcctg gcataatata cggccaccat
     1681 gatgcagtcc ctcccttgga acagcagctg gtcataaaga aggaaactgg attttggaga
     1741 gactttggat ttgggatgac gtgtcagtat cggtcagact tcatcaatat aggtgggttt
     1801 gatctggaca tcaaaggctg gggcggagag gatgtgcacc tttatcgcaa gtatctccac
     1861 agcaacctca tagtggtacg gacgcctgtg cgaggactct tccacctctg gcatgagaag
     1921 cgctgcatgg acgagctgac ccccgagcag tacaagatgt gcatgcagtc caaggccatg
     1981 aacgaggcat cccacggcca gctgggcatg ctggtgttca ggcacgagat agaggctcac
     2041 cttcgcaaac agaaacagaa gacaagtagc aaaaaaacat gaactcccag agaaggattg
     2101 tgggagacac tttttctttc cttttgcaat tactgaaagt ggctgcaaca gagaaaagac
     2161 ttccataaag gacgacaaaa gaattggact gatgggtcag agatgagaaa gcctccgatt
     2221 tctctctgtt gggcttttta caacagaaat caaaatctcc gctttgcctg caaaagtaac
     2281 ccagttgcac cctgtgaagt gtctgacaaa ggcagaatgc ttgtgagatt ataagcctaa
     2341 tggtgtggag gttttgatgg tgtttacaac acactgagac ctgttgtttt gtgtgctcat
     2401 tgaaatattc atgatttaag agcagttttg taaaaaattc attagcatga aaggcaagca
     2461 tatttctcct catatgaatg agcctatcag cagggctcta gtttctagga atgctaaaat
     2521 atcagaaggc aggagaggag ataggcttat tatgatacta gtgagtacat taagtaaaat
     2581 aaaatggacc agaaaagaaa agaaaccata aatatcgtgt catattttcc ccaagattaa
     2641 ccaaaaataa tctgcttatc tttttggttg tccttttaac tgtctccgtt tttttctttt
     2701 atttaaaaat gcactttttt tcccttgtga gttatagtct gcttatttaa ttaccacttt
     2761 gcaagcctta caagagagca caagttggcc tacattttta tattttttaa gaagatactt
     2821 tgagatgcat tatgagaact ttcagttcaa agcatcaaat tgatgccata tccaaggaca
     2881 tgccaaatgc tgattctgtc aggcactgaa tgtcaggcat tgagacatag ggaaggaatg
     2941 gtttgtacta atacagacgt acagatactt tctctgaaga gtattttcga agaggagcaa
     3001 ctgaacactg gaggaaaaga aaatgacact ttctgcttta cagaaaagga aactcattca
     3061 gactggtgat atcgtgatgt acctaaaagt cagaaaccac attttctcct cagaagtagg
     3121 gaccgctttc ttacctgttt aaataaacca aagtataccg tgtgaaccaa acaatctctt
     3181 ttcaaaacag ggtgctcctc ctggcttctg gcttccataa gaagaaatgg agaaaaaaat
     3241 atatatatat atattgtgaa agatcaatcc atctgccaga atctagtggg atggaagttt
     3301 ttgctacatg ttatccaccc caggccaggt ggaagtaact gaattatttt ttaaattaag
     3361 cagttctact cgatcaccaa gatgcttctg aaaattgcat tttattacca tttcaaacta
     3421 ttttttaaaa ataaatacag ttaacataga gtggtttctt cattcatgtg aaaattatta
     3481 gccagcacca gatgcatgag ctaattatct ctttgagtcc ttgcttctgt ttgctcacag
     3541 taaactcatt gtttaaaagc ttcaagaaca ttcaagctgt tggtgtgtta aaaaatgcat
     3601 tgtattgatt tgtactggta gtttatgaaa tttaattaaa acacaggcca tgaatggaag
     3661 gtggtattgc acagctaata aaatatgatt tgtggatatg a
//
