LOCUS       NM_016722               2593 bp    mRNA    linear   ROD 10-FEB-2025
DEFINITION  Mus musculus galactosamine (N-acetyl)-6-sulfatase (Galns),
            transcript variant 1, mRNA.
ACCESSION   NM_016722
VERSION     NM_016722.4
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 2593)
  AUTHORS   Alvarez,J.V., Bravo,S.B., Chantada-Vazquez,M.P., Pena,C., Colon,C.,
            Tomatsu,S., Otero-Espinar,F.J. and Couce,M.L.
  TITLE     Morquio A Syndrome: Identification of Differential Patterns of
            Molecular Pathway Interactions in Bone Lesions
  JOURNAL   Int J Mol Sci 25 (6), 3232 (2024)
   PUBMED   38542208
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2593)
  AUTHORS   Rintz,E., Herreno-Pachon,A.M., Celik,B., Nidhi,F., Khan,S.,
            Benincore-Florez,E. and Tomatsu,S.
  TITLE     Bone Growth Induction in Mucopolysaccharidosis IVA Mouse
  JOURNAL   Int J Mol Sci 24 (12), 9890 (2023)
   PUBMED   37373036
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2593)
  AUTHORS   Piechnik,M., Amendum,P.C., Sawamoto,K., Stapleton,M., Khan,S.,
            Fnu,N., Alvarez,V., Pachon,A.M.H., Danos,O., Bruder,J.T.,
            Karumuthil-Melethil,S. and Tomatsu,S.
  TITLE     Sex Difference Leads to Differential Gene Expression Patterns and
            Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model
            Receiving AAV8 Gene Therapy
  JOURNAL   Int J Mol Sci 23 (20), 12693 (2022)
   PUBMED   36293546
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2593)
  AUTHORS   Uijtdewilligen,P.J.E., Versteeg,E.M., van de Westerlo,E.M.A., van
            der Vlag,J., Daamen,W.F. and van Kuppevelt,T.H.
  TITLE     Dynamic Expression of Genes Involved in
            Proteoglycan/Glycosaminoglycan Metabolism during Skin Development
  JOURNAL   Biomed Res Int 2018, 9873471 (2018)
   PUBMED   30228991
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2593)
  AUTHORS   Tomatsu,S., Montano,A.M., Oikawa,H., Dung,V.C., Hashimoto,A.,
            Oguma,T., Gutierrez,M.L., Takahashi,T., Shimada,T., Orii,T. and
            Sly,W.S.
  TITLE     Enzyme replacement therapy in newborn mucopolysaccharidosis IVA
            mice: early treatment rescues bone lesions?
  JOURNAL   Mol Genet Metab 114 (2), 195-202 (2015)
   PUBMED   24953405
REFERENCE   6  (bases 1 to 2593)
  AUTHORS   Tomatsu,S., Gutierrez,M., Nishioka,T., Yamada,M., Yamada,M.,
            Tosaka,Y., Grubb,J.H., Montano,A.M., Vieira,M.B.,
            Trandafirescu,G.G., Pena,O.M., Yamaguchi,S., Orii,K.O., Orii,T.,
            Noguchi,A. and Laybauer,L.
  TITLE     Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to
            human N-acetylgalactosamine-6-sulfate sulfatase
  JOURNAL   Hum Mol Genet 14 (22), 3321-3335 (2005)
   PUBMED   16219627
REFERENCE   7  (bases 1 to 2593)
  AUTHORS   Zito,E., Fraldi,A., Pepe,S., Annunziata,I., Kobinger,G., Di
            Natale,P., Ballabio,A. and Cosma,M.P.
  TITLE     Sulphatase activities are regulated by the interaction of
            sulphatase-modifying factor 1 with SUMF2
  JOURNAL   EMBO Rep 6 (7), 655-660 (2005)
   PUBMED   15962010
  REMARK    Erratum:[EMBO Rep. 2016 Dec;17(12):1901. doi:
            10.15252/embr.201570010.. PMID: 27909074]
REFERENCE   8  (bases 1 to 2593)
  AUTHORS   Tomatsu,S., Orii,K.O., Vogler,C., Nakayama,J., Levy,B., Grubb,J.H.,
            Gutierrez,M.A., Shim,S., Yamaguchi,S., Nishioka,T., Montano,A.M.,
            Noguchi,A., Orii,T., Kondo,N. and Sly,W.S.
  TITLE     Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency
            (Galns-/-) produced by targeted disruption of the gene defective in
            Morquio A disease
  JOURNAL   Hum Mol Genet 12 (24), 3349-3358 (2003)
   PUBMED   14583446
REFERENCE   9  (bases 1 to 2593)
  AUTHORS   VanBuren,V., Piao,Y., Dudekula,D.B., Qian,Y., Carter,M.G.,
            Martin,P.R., Stagg,C.A., Bassey,U.C., Aiba,K., Hamatani,T.,
            Kargul,G.J., Luo,A.G., Kelso,J., Hide,W. and Ko,M.S.
  TITLE     Assembly, verification, and initial annotation of the NIA mouse
            7.4K cDNA clone set
  JOURNAL   Genome Res 12 (12), 1999-2003 (2002)
   PUBMED   12466305
REFERENCE   10 (bases 1 to 2593)
  AUTHORS   Montano,A.M., Yamagishi,A., Tomatsu,S., Fukuda,S., Copeland,N.G.,
            Orii,K.E., Isogai,K., Yamada,N., Kato,Z.I., Jenkins,N.A.,
            Gilbert,D.J., Sukegawa,K., Orii,T. and Kondo,N.
  TITLE     The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene:
            cDNA isolation, genomic characterization, chromosomal assignment
            and analysis of the 5'-flanking region
  JOURNAL   Biochim Biophys Acta 1500 (3), 323-334 (2000)
   PUBMED   10699374
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY348800.1, AK159592.1 and AI504634.1.
            
            On Aug 7, 2010 this sequence version replaced NM_016722.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AK159592.1, AK220245.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                BY348800.1         2-25
            25-2581             AK159592.1         2-2558
            2582-2593           AI504634.1         1-12                c
FEATURES             Location/Qualifiers
     source          1..2593
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 71.91 cM"
     gene            1..2593
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /note="galactosamine (N-acetyl)-6-sulfatase"
                     /db_xref="GeneID:50917"
                     /db_xref="MGI:MGI:1355303"
     exon            1..260
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1712
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /EC_number="3.1.6.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; N-acetylgalactosamine-6-sulfatase;
                     galactose-6-sulfate sulfatase; chondroitinsulfatase;
                     chondroitinase; GalNAc6S sulfatase;
                     N-acetylgalactosamine-6-sulfate sulfatase; galactosamine
                     (N-acetyl)-6-sulfate sulfatase"
                     /codon_start=1
                     /product="N-acetylgalactosamine-6-sulfatase isoform 1
                     precursor"
                     /protein_id="NP_057931.3"
                     /db_xref="CCDS:CCDS40504.1"
                     /db_xref="GeneID:50917"
                     /db_xref="MGI:MGI:1355303"
                     /translation="MAACTAAQQLLLVLSALGLLAAGAPQPPNIVLLLMDDMGWGDLG
                     VNGEPSRETPNLDRMAAEGMLFPSFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHAR
                     NAYTPQEIMGGIPNSEHLLPELLKKAGYTNKIVGKWHLGHRPQFHPLKHGFDEWFGSP
                     NCHFGPYDNKAKPNIPVYRDWEMVGRFYEEFPINRKTGEANLTQLYTQEALDFIQTQH
                     ARQSPFFLYWAIDATHAPVYASRQFLGTSLRGRYGDAVREIDDSVGKILSLLQNLGIS
                     KNTFVFFTSDNGAALISAPNEGGSNGPFLCGKQTTFEGGMREPAIAWWPGHIAAGQVS
                     HQLGSIMDLFTTSLSLAGLKPPSDRVIDGLDLLPTMLKGQMMDRPIFYYRGNTLMAVT
                     LGQYKAHLWTWTNSWEEFTQGTDFCPGQNVSGVTTHTQEEHTELPLIFHLGRDPGERF
                     PLSFHSDEYQDALSRTTQVVQEHQKSLVPGQPQLNVCNQAVMNWAPPGCEKLGKCLTP
                     PESVPEKCFWAH"
     exon            261..384
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            385..459
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            460..562
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            563..706
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            707..773
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            774..901
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1041
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1145
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            1146..1282
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1385
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..1507
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1625
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..2586
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2555..2560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /note="hexamer: ATTAAA"
     polyA_site      2586
                     /gene="Galns"
                     /gene_synonym="mFLJ00319"
                     /note="major polyA site"
ORIGIN      
        1 agacagccta ggccccacct ctccctcttc ttttctccgt ggccctgccc ctcctctcat
       61 tctgccgcca gggcccgccc tacagtccaa aaggaaccgc ggcaggcttg ggactgggtc
      121 ttgactcctc agcgggagct tggtttgcta tggcggcctg taccgcagcc cagcagctgc
      181 tgctggtact gagtgcccta ggactcttgg ccgcaggtgc tccgcagccc cccaacatcg
      241 tgctactgct catggacgat atggggtggg gtgacttggg tgtgaatgga gaaccttcca
      301 gagagacccc aaatttagac cggatggctg cagaagggat gcttttccca agcttctatt
      361 ctgccaaccc tttgtgctca ccatctaggg cagccctgct cacaggacgg ctgcccatcc
      421 gcaatggctt ctacacaacc aacgctcatg caaggaatgc ttacacacct caggagatca
      481 tgggtgggat ccctaactca gagcacctcc tgcccgagct cctgaagaag gcaggctata
      541 ccaacaagat cgtgggcaag tggcatctgg gtcataggcc ccagttccac cccctgaagc
      601 atggatttga cgagtggttt ggatctccca actgtcactt tggaccgtat gacaacaagg
      661 ccaagcccaa catccctgtg tacagggact gggagatggt cggcagattt tatgaagagt
      721 tcccaattaa ccggaagact ggggaagcta acctcaccca gctctacaca caagaagcgc
      781 tggacttcat ccagacacaa catgcaaggc agagcccctt cttcctctac tgggccatcg
      841 acgccactca tgcaccagtt tacgcctcaa gacagttctt gggcaccagc cttcgagggc
      901 ggtatggcga tgctgttcgg gaaatagatg acagtgttgg gaagatcttg agccttctgc
      961 agaacttggg catcagtaag aacacatttg tcttcttcac gtctgataat ggtgcggccc
     1021 tcatttctgc tcccaacgaa ggtggcagca acggtccctt cctgtgtggg aagcagacga
     1081 catttgaagg cgggatgagg gagcctgcga tcgcatggtg gccaggacac attgctgcag
     1141 gccaggtcag ccaccagctg ggaagcatca tggatctctt caccaccagc ctgtcccttg
     1201 caggcctgaa gccccccagt gacagggtga ttgatggact tgacctcctc cccaccatgc
     1261 tcaagggcca gatgatggac aggcccatat tttattaccg tggcaacact ctgatggctg
     1321 tcactcttgg ccagtacaaa gcacacctct ggacttggac caactcctgg gaggagttca
     1381 cacagggcac tgacttctgc cccgggcaga acgtctcagg agttacaacc cacacccagg
     1441 aagaacacac ggagctaccc ctgatcttcc acctgggacg ggacccaggg gagagattcc
     1501 cactcagctt ccacagtgac gaataccagg acgccctcag caggaccacc caggttgtcc
     1561 aggagcacca aaagtccttg gtccccggac agccccagct caatgtgtgt aaccaggctg
     1621 tcatgaattg ggcaccccca ggctgtgaaa aactagggaa gtgtctgaca cctcctgagt
     1681 ctgtccctga gaagtgtttc tgggcccatt agccaagacc agaatctcca gccagccctg
     1741 caagtgcctg ggagaccttg tccttcggac tgatgaatgg aagagaccag ctgccctctg
     1801 cccacccatc cctgcatgga cggcccctgc aaccaggtgc aaggctccaa gactgctcat
     1861 cctggagccc tgaccctgta gtccgctctc gagcaccaca gcccatcttg ccaactggct
     1921 cctgaaaagg aagccggggc cttgatcacc gtaggtacgt caacccaggg tctgaagcac
     1981 tgtcactgtc cctgcataca tttcaaccta ggtgccgtac acaaaagtga agatttcagc
     2041 gaaatgccaa ggaagtgcca tctatctggc ttctccccca ggccaaccct ctgagccacc
     2101 ctacctcttt cgcactggct acaaacaaaa gacaaagaca gcaccttttc cagtcaaggt
     2161 ggcatctgca ctgccccatg gagatgggaa gatgacagcc taagtttctg gccctggctc
     2221 agggcagtat ggggccactt ctgtaacctg ccacctctca tatgctccac ataatctcca
     2281 agaccctttc tctgaaggct catggacaag ttttcacatc tgtgcagtaa ctgcagagcc
     2341 aaggttgagc tgtaacggtt gggaaatgat ggtgaagaga ctgagaggaa gaataaagga
     2401 acaggagggg gttagctctg gtagccccaa gtctattttt gggttggttt gagacagggt
     2461 ttctcagtga ggtgctggct ctcctagaac tcactctgta ggacaggctg gccttgaact
     2521 cagagatctg cctgcctctc ttgggagtgc tgggattaaa ggcgtgcgcc atcatgagac
     2581 cacctaaaaa aaa
//
