LOCUS       NM_012200               1452 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens beta-1,3-glucuronyltransferase 3 (B3GAT3), transcript
            variant 1, mRNA.
ACCESSION   NM_012200
VERSION     NM_012200.4
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 1452)
  AUTHORS   Buljan,M., Ciuffa,R., van Drogen,A., Vichalkovski,A., Mehnert,M.,
            Rosenberger,G., Lee,S., Varjosalo,M., Pernas,L.E., Spegg,V.,
            Snijder,B., Aebersold,R. and Gstaiger,M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   2  (bases 1 to 1452)
  AUTHORS   Byrne,A.B., Mizumoto,S., Arts,P., Yap,P., Feng,J., Schreiber,A.W.,
            Babic,M., King-Smith,S.L., Barnett,C.P., Moore,L., Sugahara,K.,
            Mutlu-Albayrak,H., Nishimura,G., Liebelt,J.E., Yamada,S.,
            Savarirayan,R. and Scott,H.S.
  TITLE     Pseudodiastrophic dysplasia expands the known phenotypic spectrum
            of defects in proteoglycan biosynthesis
  JOURNAL   J Med Genet 57 (7), 454-460 (2020)
   PUBMED   31988067
  REMARK    GeneRIF: Pseudodiastrophic dysplasia expands the known phenotypic
            spectrum of defects in proteoglycan biosynthesis.
REFERENCE   3  (bases 1 to 1452)
  AUTHORS   Yauy,K., Tran Mau-Them,F., Willems,M., Coubes,C., Blanchet,P.,
            Herlin,C., Taleb Arrada,I., Sanchez,E., Faure,J.M., Le Gac,M.P.,
            Prodhomme,O., Boland,A., Meyer,V., Riviere,J.B., Duffourd,Y.,
            Deleuze,J.F., Guignard,T., Captier,G., Barat-Houari,M. and
            Genevieve,D.
  TITLE     B3GAT3-related disorder with craniosynostosis and bone fragility
            due to a unique mutation
  JOURNAL   Genet Med 20 (2), 269-274 (2018)
   PUBMED   28771243
  REMARK    GeneRIF: We identified a novel B3GAT3-related disorder with
            craniosynostosis and bone fragility, due to a unique homozygous
            mutation in B3GAT3. This syndrome should be considered in the
            prenatal period in light of the severe outcome and as an
            alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg
            syndrome.
REFERENCE   4  (bases 1 to 1452)
  AUTHORS   Budde,B.S., Mizumoto,S., Kogawa,R., Becker,C., Altmuller,J.,
            Thiele,H., Ruschendorf,F., Toliat,M.R., Kaleschke,G.,
            Hammerle,J.M., Hohne,W., Sugahara,K., Nurnberg,P. and
            Kennerknecht,I.
  TITLE     Skeletal dysplasia in a consanguineous clan from the island of
            Nias/Indonesia is caused by a novel mutation in B3GAT3
  JOURNAL   Hum Genet 134 (7), 691-704 (2015)
   PUBMED   25893793
  REMARK    GeneRIF: Since the phenotype of the Nias patients differs from the
            Larsen-like syndrome described for patients with mutation
            p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a
            different type of GAG linkeropathy showing no involvement of the
            heart.
REFERENCE   5  (bases 1 to 1452)
  AUTHORS   Koike,T., Izumikawa,T., Sato,B. and Kitagawa,H.
  TITLE     Identification of phosphatase that dephosphorylates xylose in the
            glycosaminoglycan-protein linkage region of proteoglycans
  JOURNAL   J Biol Chem 289 (10), 6695-6708 (2014)
   PUBMED   24425863
REFERENCE   6  (bases 1 to 1452)
  AUTHORS   Pedersen,L.C., Tsuchida,K., Kitagawa,H., Sugahara,K., Darden,T.A.
            and Negishi,M.
  TITLE     Heparan/chondroitin sulfate biosynthesis. Structure and mechanism
            of human glucuronyltransferase I
  JOURNAL   J Biol Chem 275 (44), 34580-34585 (2000)
   PUBMED   10946001
REFERENCE   7  (bases 1 to 1452)
  AUTHORS   Ouzzine,M., Gulberti,S., Netter,P., Magdalou,J. and
            Fournel-Gigleux,S.
  TITLE     Structure/function of the human Ga1beta1,3-glucuronosyltransferase.
            Dimerization and functional activity are mediated by two crucial
            cysteine residues
  JOURNAL   J Biol Chem 275 (36), 28254-28260 (2000)
   PUBMED   10842173
REFERENCE   8  (bases 1 to 1452)
  AUTHORS   Tone,Y., Kitagawa,H., Imiya,K., Oka,S., Kawasaki,T. and Sugahara,K.
  TITLE     Characterization of recombinant human glucuronyltransferase I
            involved in the biosynthesis of the glycosaminoglycan-protein
            linkage region of proteoglycans
  JOURNAL   FEBS Lett 459 (3), 415-420 (1999)
   PUBMED   10526176
REFERENCE   9  (bases 1 to 1452)
  AUTHORS   Herman,T. and Horvitz,H.R.
  TITLE     Three proteins involved in Caenorhabditis elegans vulval
            invagination are similar to components of a glycosylation pathway
  JOURNAL   Proc Natl Acad Sci U S A 96 (3), 974-979 (1999)
   PUBMED   9927678
REFERENCE   10 (bases 1 to 1452)
  AUTHORS   Kitagawa,H., Tone,Y., Tamura,J., Neumann,K.W., Ogawa,T., Oka,S.,
            Kawasaki,T. and Sugahara,K.
  TITLE     Molecular cloning and expression of glucuronyltransferase I
            involved in the biosynthesis of the glycosaminoglycan-protein
            linkage region of proteoglycans
  JOURNAL   J Biol Chem 273 (12), 6615-6618 (1998)
   PUBMED   9506957
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001458.6, AB009598.1 and
            BC007906.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_012200.3.
            
            Summary: The protein encoded by this gene is a member of the
            glucuronyltransferase gene family, enzymes that exhibit strict
            acceptor specificity, recognizing nonreducing terminal sugars and
            their anomeric linkages. This gene product catalyzes the formation
            of the glycosaminoglycan-protein linkage by way of a glucuronyl
            transfer reaction in the final step of the biosynthesis of the
            linkage region of proteoglycans. A pseudogene of this gene has been
            identified on chromosome 3. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR1163658.237866.1,
                                           SRR3476690.107957.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265471.10/ ENSP00000265471.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AP001458.6         29244-29253         c
            11-608              AB009598.1         1-598
            609-1452            BC007906.2         598-1441
FEATURES             Location/Qualifiers
     source          1..1452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..1452
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /note="beta-1,3-glucuronyltransferase 3"
                     /db_xref="GeneID:26229"
                     /db_xref="HGNC:HGNC:923"
                     /db_xref="MIM:606374"
     exon            1..121
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /inference="alignment:Splign:2.1.0"
     exon            122..296
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /inference="alignment:Splign:2.1.0"
     exon            297..657
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /inference="alignment:Splign:2.1.0"
     exon            658..948
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1452
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1432..1437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /note="hexamer: AATAAA"
     polyA_site      1452
                     /gene="B3GAT3"
                     /gene_synonym="GLCATI; glcUAT-I; JDSCD"
                     /note="major polyA site"
ORIGIN      
        1 gcagaccccg cctgctcggg cgcgggcggc ggcgcggcca tgaagctgaa gctgaagaac
       61 gtgtttctcg cctacttcct ggtgtcgatc gccggcctcc tctacgcgct ggtacagctc
      121 ggccagccat gtgactgcct tcctcccctg cgggcagcag ccgagcagct acggcagaag
      181 gatctgagga tttcccagct gcaagcggaa ctccgacggc caccccctgc ccctgcccag
      241 ccccctgaac ccgaggccct gcctactatc tatgttgtta cccccaccta tgccaggctg
      301 gtacagaagg cagagctggt acgactgtcc cagacactga gcctggtgcc ccggctgcat
      361 tggctgctgg tggaggatgc tgagggtccc accccgctgg tctcagggct gctggctgcc
      421 tctggcctcc tcttcacaca cctggtggtc ctcacgccca aagcccagcg gcttcgggag
      481 ggcgagcctg gctgggttca tccccgtggt gtcgagcagc ggaacaaggc cctggactgg
      541 ctccggggca gagggggtgc tgtgggtggg gagaaggacc caccaccacc agggacccaa
      601 ggagtcgtct actttgctga cgatgacaac acctacagcc gggagctgtt tgaggagatg
      661 cgctggaccc gtggtgtctc agtgtggcct gtggggctgg tgggcggcct gcgattcgag
      721 ggccctcagg tacaggacgg ccgggtagtg ggcttccaca cagcatggga gcccagcagg
      781 cccttccctg tggatatggc tggatttgcc gtggccctgc ccttgctgtt agataagccc
      841 aatgcccaat ttgattccac cgctccccgg ggccacctgg agagcagtct tctgagccac
      901 cttgtggatc ccaaggacct ggagccacgg gctgccaact gcactcgggt actggtgtgg
      961 catactcgga cagagaagcc caagatgaag caggaggagc agctgcagcg gcagggccgg
     1021 ggctcagacc cagcaattga ggtgtgatgg cggccccacc ccaactacca cctcttttca
     1081 ggcacagacc ttgtgggact gggccccagg cctgcccagg atgtggtttt ccaagtcctg
     1141 acccttggag ccagaagtgg cccctctgcc cctccaggcc cagggcatgg tcctgctgct
     1201 tcacccctcc cctagcctgc cgtgtggcac tgcccacagg ctggggacaa gcagcccttg
     1261 tgttgagtca ggttggccct gtctagggtg gaacagaagg acagatggac ccaggaggga
     1321 gggcagctga gtaactgggt aacttattgg ggctgggcat gcactggggg gctggaggag
     1381 ctgggctgga cccttcccac ctgagcatgc tgaccccctt cctacctcca gaataaagaa
     1441 tctcaacctg ga
//
