LOCUS       NM_010162               3478 bp    mRNA    linear   ROD 24-DEC-2024
DEFINITION  Mus musculus exostosin glycosyltransferase 1 (Ext1), mRNA.
ACCESSION   NM_010162
VERSION     NM_010162.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3478)
  AUTHORS   Garcia,S.A., Wilson,K., Tang,N., Tian,H., Oichi,T.,
            Gunawardena,A.T., Chorny,M., Alferiev,I.S., Herzenberg,J.E.,
            Ng,V.Y., Iwamoto,M. and Enomoto-Iwamoto,M.
  TITLE     Analysis of the Actions of RARgamma Agonists on Growing
            Osteochondromas in a Mouse Model
  JOURNAL   Int J Mol Sci 25 (14), 7610 (2024)
   PUBMED   39062860
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3478)
  AUTHORS   Herrera-Heredia,S.A., Hsu,H.P., Kao,C.Y., Tsai,Y.H., Yamaguchi,Y.,
            Roers,A., Hsu,C.L. and Dzhagalov,I.L.
  TITLE     Heparin is required for the formation of granules in connective
            tissue mast cells
  JOURNAL   Front Immunol 13, 1000405 (2022)
   PUBMED   36439118
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3478)
  AUTHORS   Mundy,C., Chung,J., Koyama,E., Bunting,S., Mahimkar,R. and
            Pacifici,M.
  TITLE     Osteochondroma formation is independent of heparanase expression as
            revealed in a mouse model of hereditary multiple exostoses
  JOURNAL   J Orthop Res 40 (10), 2391-2401 (2022)
   PUBMED   34996123
  REMARK    GeneRIF: Osteochondroma formation is independent of heparanase
            expression as revealed in a mouse model of hereditary multiple
            exostoses.
REFERENCE   4  (bases 1 to 3478)
  AUTHORS   Wang,M., Li,B., Qin,F., Ye,J. and Jin,L.
  TITLE     Obesity induced Ext1 reduction mediates the occurrence of NAFLD
  JOURNAL   Biochem Biophys Res Commun 589, 123-130 (2022)
   PUBMED   34906902
  REMARK    GeneRIF: Obesity induced Ext1 reduction mediates the occurrence of
            NAFLD.
REFERENCE   5  (bases 1 to 3478)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3478)
  AUTHORS   Hecht,J.T., Hogue,D., Wang,Y., Blanton,S.H., Wagner,M.,
            Strong,L.C., Raskind,W., Hansen,M.F. and Wells,D.
  TITLE     Hereditary multiple exostoses (EXT): mutational studies of familial
            EXT1 cases and EXT-associated malignancies
  JOURNAL   Am J Hum Genet 60 (1), 80-86 (1997)
   PUBMED   8981950
REFERENCE   7  (bases 1 to 3478)
  AUTHORS   Lin,X. and Wells,D.
  TITLE     Isolation of the mouse cDNA homologous to the human EXT1 gene
            responsible for Hereditary Multiple Exostoses
  JOURNAL   DNA Seq 7 (3-4), 199-202 (1997)
   PUBMED   9254013
REFERENCE   8  (bases 1 to 3478)
  AUTHORS   Lohmann,D.R., Buiting,K., Ludecke,H.J. and Horsthemke,B.
  TITLE     The murine Ext1 gene shows a high level of sequence similarity with
            its human homologue and is part of a conserved linkage group on
            chromosome 15
  JOURNAL   Cytogenet Cell Genet 76 (3-4), 164-166 (1997)
   PUBMED   9186511
REFERENCE   9  (bases 1 to 3478)
  AUTHORS   Hecht,J.T., Hogue,D., Strong,L.C., Hansen,M.F., Blanton,S.H. and
            Wagner,M.
  TITLE     Hereditary multiple exostosis and chondrosarcoma: linkage to
            chromosome II and loss of heterozygosity for EXT-linked markers on
            chromosomes II and 8
  JOURNAL   Am J Hum Genet 56 (5), 1125-1131 (1995)
   PUBMED   7726168
REFERENCE   10 (bases 1 to 3478)
  AUTHORS   Hennekam,R.C.
  TITLE     Hereditary multiple exostoses
  JOURNAL   J Med Genet 28 (4), 262-266 (1991)
   PUBMED   1856833
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CJ045320.1, AK132327.1 and BI133786.1.
            
            On Aug 19, 2006 this sequence version replaced NM_010162.1.
            
            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 :: AK132327.1, X96639.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164140 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                CJ045320.1         1-24
            25-3310             AK132327.1         2-3287
            3311-3478           BI133786.1         1-168               c
FEATURES             Location/Qualifiers
     source          1..3478
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 20.0 cM"
     gene            1..3478
                     /gene="Ext1"
                     /note="exostosin glycosyltransferase 1"
                     /db_xref="GeneID:14042"
                     /db_xref="MGI:MGI:894663"
     exon            1..1782
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     CDS             821..3061
                     /gene="Ext1"
                     /EC_number="2.4.1.225"
                     /note="multiple exostoses protein 1 homolog; exostoses
                     (multiple) 1;
                     glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-
                     acetylglucosaminyl-proteoglycan
                     4-alpha-N-acetylglucosaminyltransferase;
                     N-acetylglucosaminyl-proteoglycan
                     4-beta-glucuronosyltransferase"
                     /codon_start=1
                     /product="exostosin-1"
                     /protein_id="NP_034292.2"
                     /db_xref="CCDS:CCDS27466.1"
                     /db_xref="GeneID:14042"
                     /db_xref="MGI:MGI:894663"
                     /translation="MQAKKRYFILLSAGSCLALLFYFGGVQFRASRSHSRREEHSGRN
                     GLHQPSPDHFWPRFPDALRPFFPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMES
                     CFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDT
                     LDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAK
                     ASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIG
                     SDTRNALYHVHNGEDVLLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFC
                     LVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPST
                     IRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPG
                     GLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQ
                     YCAQIIVLWNCDKPLPAKHRWPATAVPVIVIEGESKVMSSRFLPYDNIITDAVLSLDE
                     DTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMVLTGAA
                     IYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETM
                     MGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKY
                     RDIERL"
     exon            1783..1876
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            1877..1984
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            1985..2104
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2237
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2238..2356
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2357..2452
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2453..2542
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2543..2703
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2704..2875
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     exon            2876..3464
                     /gene="Ext1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3433..3438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ext1"
                     /note="hexamer: ATTAAA"
     polyA_site      3464
                     /gene="Ext1"
                     /note="major polyA site"
ORIGIN      
        1 gcgctgtcgt gtcgggaatg gaatgtgtaa gtgtaacatt cagaaccggg taacattcgg
       61 cgaccgaacg cggcggtcgg cagtgatagc gcggggcctg cgaagcaccg ctcggggccg
      121 gcactgcccg cggggaggac gcgccgccgc cgccgccccg cgccgcctcg tgccgccggc
      181 cgggccgccg cgcgcccggg gagccggccc cgtgagcgca ggagtaaaca ccggcggagt
      241 gtgggagccg ctgcagaagg gaataaagag acatgcaggg atttgtgagg ttacggcgcc
      301 ccagctgcaa gatgcactag ccggctgaag ccggggcgga ttgacttgtt ggaaccgtag
      361 tgctctgcac cggagtgtgg atgagttgaa gttgctttcc ccgggctcgt tctccacgcc
      421 gccgagagga atccgagcgg agaggcagtc acttcgtctt gccattgatt gggtatcggg
      481 agctttttct tccctgctct ctttcttttc ctccgtcttg ttgcatgcaa gaaaattaca
      541 gtccgctgtt cgcccgccct gggtgcgaga tcttctgccc ggctctctcc cgtgcattgt
      601 gcagcccaaa gatgaaagac cgaaggggag aaagttaaag aaatcgccca catgcgctgg
      661 atcagtccac ggcttgggga aaggcatcca gagaaggtgg gagcggagag tttgaagtct
      721 ttacaggcgg gaagatggcg gactggagct gaaagtgttg attgggaaac ttgggtgatt
      781 cttgtgttta tttacaatcc tcttgaccca ggcaggacac atgcaggcca aaaaacgcta
      841 tttcatcctg ctctcagctg gctcttgtct cgcccttttg ttttattttg gaggcgtgca
      901 gtttagggca tcgaggagcc acagccggag agaagagcac agtggtcgga atggcttgca
      961 ccagcccagt ccggatcatt tctggccccg cttcccggac gctctgcgcc ctttctttcc
     1021 ttgggatcaa ttggaaaacg aggattccag cgtgcacatt tccccccggc agaagcgaga
     1081 cgccaactcg agcatctaca aaggcaagaa gtgccgcatg gagtcctgct tcgatttcac
     1141 cctttgcaag aaaaacggct tcaaagtcta cgtgtacccg cagcagaaag gggagaaaat
     1201 cgccgaaagt taccaaaaca ttctagcggc catcgagggc tccaggttct acacctcgga
     1261 ccccagccag gcgtgcctct ttgtcttgag tctggatact ttagacagag accagttatc
     1321 acctcagtat gtgcacaatt tgagatccaa agtgcagagt ctccacttgt ggaacaatgg
     1381 taggaatcat ttaattttta atttatattc tggcacttgg cctgactaca ctgaggacgt
     1441 ggggtttgac atcggccagg cgatgctggc caaagccagc atcagtactg aaaacttccg
     1501 accaaacttt gatgtttcta ttcccctctt ttctaaggat catcccagga caggagggga
     1561 gagggggttt ttgaaattta acaccatccc tcctctcagg aagtacatgc tggtattcaa
     1621 ggggaagcgg tacctgacag ggatagggtc agacaccagg aatgccttat atcacgtcca
     1681 taacggggag gacgtcttgc tcctcaccac ctgcaagcat ggcaaagact ggcaaaagca
     1741 caaggattct cgctgtgaca gagacaacac cgagtatgag aaatatgatt atcgggaaat
     1801 gctgcacaat gccactttct gtctggttcc tcgtggtcgc aggcttgggt ccttcagatt
     1861 cctggaggct ttgcaggctg cctgtgtccc tgtaatgctc agcaacggat gggagttgcc
     1921 attctccgaa gtgattaatt ggaaccaagc tgccgtcata ggcgatgaga gattgctatt
     1981 acagattcct tctacaatca ggtctattca tcaggataaa atcctagcac ttagacagca
     2041 gacacagttc ttgtgggagg cttatttttc ttcagttgag aagattgtat taactacact
     2101 agagattatt caggacagaa tattcaagca catatcacgt aacagtttaa tatggaacaa
     2161 acatcctgga ggattgttcg tcctaccgca gtattcatct tacctgggag atttccctta
     2221 ctactatgct aatttaggtt taaagccccc ctccaaattc actgcagtca tccatgctgt
     2281 gactcccctg gtctctcagt cccagccagt gttgaagctt cttgtggctg cagccaaatc
     2341 ccagtactgt gcgcagatca tagttctgtg gaattgtgac aagcctctac cagccaaaca
     2401 tcgctggcct gccactgccg tgcctgtcat cgtcattgaa ggagaaagca aggttatgag
     2461 cagccggttt ctgccctatg acaacatcat cactgatgct gtgctcagcc tggatgagga
     2521 cactgtgctt tcaactacgg aagtggattt tgccttcacc gtatggcaga gcttcccaga
     2581 gaggattgtg ggatatcctg ctcgcagtca tttctgggat aactcaaagg agcggtgggg
     2641 atatacatcc aagtggacga atgactactc catggtgttg acaggagctg ctatctacca
     2701 caaatattat cactacctgt attcccatta cctgccagcc agcctgaaga acatggtaga
     2761 ccaactggcc aactgtgagg acattctcat gaatttcctg gtgtctgctg tgacaaaatt
     2821 gcctccaatc aaagtgaccc agaagaaaca gtataaggag acaatgatgg gacagacttc
     2881 ccgagcatcc cgctgggccg accctgacca ctttgcccag cgacagagct gcatgaatac
     2941 atttgccagc tggtttggct acatgccgct gatccattct cagatgaggc tggacccggt
     3001 cctctttaaa gaccaagtct caattctgag gaagaaatac agagacattg aacgactttg
     3061 aggaagccca ccgagtgggg gaggggaagc aagacgggcg tccagctgct ctctcctcct
     3121 tcccaatgca gatccgctca cgcccagcag tggagccaga ctgtgccaag tatcaaaaaa
     3181 tcaaaaaaaa tcaaaaaaca aaaaaaacaa aaaagacaaa aaaagaaaaa ggaaaaaata
     3241 aacagcttag atgaacacag tgacaaaact cggctggaat cctggctcct ggggctgcgc
     3301 cagactgctc cattcacctc actggcttct gtgtcccaca actaggttgt gtacagttta
     3361 attatggaac attaaataat tatttttgaa atgattgcta tgcaggttta aactttttta
     3421 atgatcaaaa ctattaaaaa ccagagttct ttctttaatc aaaaaaaaaa aaaaaaaa
//
