LOCUS       NM_172997               4289 bp    mRNA    linear   ROD 12-NOV-2024
DEFINITION  Mus musculus iduronidase, alpha-L (Idua), transcript variant 2,
            mRNA.
ACCESSION   NM_172997 XM_006534796
VERSION     NM_172997.1
KEYWORDS    RefSeq.
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 4289)
  AUTHORS   Malinowska,M., Nowicka,W., Kloska,A., Wegrzyn,G. and
            Jakobkiewicz-Banecka,J.
  TITLE     Efficacy of a Combination Therapy with Laronidase and Genistein in
            Treating Mucopolysaccharidosis Type I in a Mouse Model
  JOURNAL   Int J Mol Sci 25 (4), 2371 (2024)
   PUBMED   38397051
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4289)
  AUTHORS   Tuyaa-Boustugue,P., Jantzen,I., Zhang,H., Young,S.P., Broqua,P.,
            Tallandier,M. and Entchev,E.
  TITLE     Reduction of lysosome abundance and GAG accumulation after
            odiparcil treatment in MPS I and MPS VI models
  JOURNAL   Mol Genet Metab Rep 37, 101011 (2023)
   PUBMED   38053941
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4289)
  AUTHORS   Zhu,W., Ou,L., Zhang,L., Clark,I.H., Zhang,Y., Zhu,X.H.,
            Whitley,C.B., Hackett,P.B., Low,W.C. and Chen,W.
  TITLE     Mapping brain networks in MPS I mice and their restoration
            following gene therapy
  JOURNAL   Sci Rep 13 (1), 12716 (2023)
   PUBMED   37543633
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4289)
  AUTHORS   Gaffke,L., Pierzynowska,K., Cyske,Z., Podlacha,M. and Wegrzyn,G.
  TITLE     Contribution of vesicle trafficking dysregulation to the
            pathomechanism of mucopolysaccharidosis
  JOURNAL   Biochem Biophys Res Commun 665, 107-117 (2023)
   PUBMED   37149983
REFERENCE   5  (bases 1 to 4289)
  AUTHORS   Gaffke,L., Rintz,E., Pierzynowska,K. and Wegrzyn,G.
  TITLE     Actin Cytoskeleton Polymerization and Focal Adhesion as Important
            Factors in the Pathomechanism and Potential Targets of
            Mucopolysaccharidosis Treatment
  JOURNAL   Cells 12 (13), 1782 (2023)
   PUBMED   37443816
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4289)
  AUTHORS   Clarke,L.A., Nasir,J., Zhang,H., McDonald,H., Applegarth,D.A.,
            Hayden,M.R. and Toone,J.
  TITLE     Murine alpha-L-iduronidase: cDNA isolation and expression
  JOURNAL   Genomics 24 (2), 311-316 (1994)
   PUBMED   7698753
REFERENCE   7  (bases 1 to 4289)
  AUTHORS   Nasir,J., Lin,B., Bucan,M., Koizumi,T., Nadeau,J.H. and Hayden,M.R.
  TITLE     The murine homologues of the Huntington disease gene (Hdh) and the
            alpha-adducin gene (Add1) map to mouse chromosome 5 within a region
            of conserved synteny with human chromosome 4p16.3
  JOURNAL   Genomics 22 (1), 198-201 (1994)
   PUBMED   7959767
REFERENCE   8  (bases 1 to 4289)
  AUTHORS   Grosson,C.L., MacDonald,M.E., Duyao,M.P., Ambrose,C.M.,
            Roffler-Tarlov,S. and Gusella,J.F.
  TITLE     Synteny conservation of the Huntington's disease gene and
            surrounding loci on mouse Chromosome 5
  JOURNAL   Mamm Genome 5 (7), 424-428 (1994)
   PUBMED   7919654
REFERENCE   9  (bases 1 to 4289)
  AUTHORS   Koizumi,T., MacDonald,M., Bucan,M., Hopwood,J.J., Morris,C.P.,
            Scott,H.S., Gusella,J.F. and Nadeau,J.H.
  TITLE     Linkage, but not gene order, of homologous loci, including
            alpha-L-iduronidase (Idua), is conserved in the Huntington disease
            region of the mouse and human genomes
  JOURNAL   Mamm Genome 3 (1), 23-27 (1992)
   PUBMED   1533802
REFERENCE   10 (bases 1 to 4289)
  AUTHORS   Scott,H.S., Ashton,L.J., Eyre,H.J., Baker,E., Brooks,D.A.,
            Callen,D.F., Sutherland,G.R., Morris,C.P. and Hopwood,J.J.
  TITLE     Chromosomal localization of the human alpha-L-iduronidase gene
            (IDUA) to 4p16.3
  JOURNAL   Am J Hum Genet 47 (5), 802-807 (1990)
   PUBMED   2220820
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK155627.1, AK045330.1, AK031414.1 and AC161813.2.
            
            On Jan 22, 2014 this sequence version replaced XM_006534796.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The encoded
            isoform (2) is shorter than isoform 1.
            
            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##
            CDS exon combination :: AK045330.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMN00849377 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-373               AK155627.1         2-374
            374-1543            AK045330.1         2-1171
            1544-2359           AK031414.1         1339-2154
            2360-3395           AK045330.1         1988-3023
            3396-4289           AC161813.2         1034-1927           c
FEATURES             Location/Qualifiers
     source          1..4289
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5 53.24 cM"
     gene            1..4289
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /note="iduronidase, alpha-L"
                     /db_xref="GeneID:15932"
                     /db_xref="MGI:MGI:96418"
     exon            1..168
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            169..580
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     CDS             426..2216
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /EC_number="3.2.1.76"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; alpha-L-iduronidase"
                     /codon_start=1
                     /product="alpha-L-iduronidase isoform 2 precursor"
                     /protein_id="NP_766585.1"
                     /db_xref="CCDS:CCDS71635.1"
                     /db_xref="GeneID:15932"
                     /db_xref="MGI:MGI:96418"
                     /translation="MRPPRPSSAMLTFFAAFLAAPLALAESPYLVRVDAARPLRPLLP
                     FWRSTGFWKSPGQGLMYNFTHLDAFLDLLMENQLLPGFELMGSPSGYFTDFDDKQQVF
                     EWKDLVSLLARRYIGRYGLTHVSKWNFETWNEPDHHDFDNVSMTTQGFLNYYDACSEG
                     LRIASPTLKLGGPGDSFHPLPRSPMCWSLLGHCANGTNFFTGEVGVRLDYISLHKKGA
                     GSSIAILEQEMAVVEQVQQLFPEFKDTPIYNDEADPLVGWSLPQPWRADVTYAALVVK
                     VIAQHQNLLFANSSSSMRYVLLSNDNAFLSYHPYPFSQRTLTARFQVNNTHPPHVQLL
                     RKPVLTVMGLMALLDGEQLWAEVSKAGAVLDSNHTVGVLASTHHPEGSAAAWSTTVLI
                     YTSDDTHAHPNHSIPVTLRLRGVPPGLDLVYIVLYLDNQLSSPYSAWQHMGQPVFPSA
                     EQFRRMRMVEDPVAEAPRPFPARGRLTLHRKLPVPSLLLVHVCTRPLKPPGQVSRLRA
                     LPLTHGQLILVWSDERVGSKCLWTYEIQFSQKGEEYAPINRRPSTFNLFVFSPDTAVV
                     SGSYRVRALDYWARPGPFSDPVTYLDVPAS"
     exon            581..666
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            667..774
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            775..870
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            871..1073
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1253
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1470
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1683
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1805
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            1806..1931
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..2008
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            2009..2109
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     exon            2110..4289
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3361..3366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /note="hexamer: AATAAA"
     polyA_site      3398
                     /gene="Idua"
                     /gene_synonym="6030426D08"
                     /note="major polyA site"
ORIGIN      
        1 ctctgtgccc acccactgcc aagagggaca ggtctcaaag gtcagggcag tgtcccggga
       61 aggagggcat cggctcctgg gagcggcctt aggacgcggg gtggactctc accatcgcac
      121 aggaagccag ccagtcccca gatgaagtcc gagcagaggt ggcagaagag cacctacagg
      181 cctccagcga gaccgagaca gccgcaagaa taatggccgc tctgagacac ccaagcactg
      241 ctaatgttgg ttccattttt ggagcgcctg ggacgcagcg gaactcgcca gcacggggcg
      301 gcgcgtgact gggttccttt ttgtcccggc ctggcgagag gtcacgtggg gcgttacgca
      361 gaggcggaac actgcgaccg ccgcctaaaa agcttgctgt ttaggggcac ctggatatcc
      421 caaccatgcg acccccgcgt ccctcctcag ctatgctgac gttttttgct gcgttcttgg
      481 ccgcgccctt ggcgctggct gagtcaccgt acctggtgcg tgtggacgca gcccgcccgc
      541 tgaggcctct gttgcccttc tggaggagca ccggcttctg gaagtcacct gggcagggac
      601 ttatgtacaa cttcacccac ttggatgcat tcttggacct tctcatggag aaccagcttc
      661 tccctggatt tgagctcatg ggcagtcctt ctgggtactt cacggacttt gatgacaagc
      721 agcaggtgtt tgaatggaag gacctggttt ctctcttggc caggagatac attggtaggt
      781 atgggctgac acacgtttcc aagtggaact ttgagacttg gaatgaacca gaccaccatg
      841 actttgacaa cgtgtccatg accacacaag gcttcctgaa ttactatgat gcctgctctg
      901 aggggctgcg cattgccagc cccactttga agttgggtgg tcctggggat tccttccacc
      961 ccctgccaag gtcaccaatg tgctggagcc tcctgggtca ctgtgccaat ggaaccaact
     1021 tcttcactgg cgaggtgggc gtgcgtctgg attacatctc cctgcacaag aagggtgcag
     1081 gtagctccat cgccatcctg gagcaggaga tggcagttgt ggagcaggtc cagcagctct
     1141 tccctgagtt caaggatacc cctatttaca atgacgaggc agaccctctg gtgggctggt
     1201 ccctgccaca accttggaga gctgatgtga cttatgcggc cctggtggtg aaggtcattg
     1261 cacagcacca gaacctgctg tttgccaaca gcagttcctc catgcgctat gtgctcctca
     1321 gcaatgacaa tgccttcctg agctaccacc cgtacccttt ctcccagcgc acacttactg
     1381 ctcgattcca ggtcaacaat actcacccac cccacgtgca gttgctgcga aagccagtac
     1441 tcacagtcat ggggctcatg gccctgttgg atggagaaca actctgggca gaggtctcaa
     1501 aggctggggc tgtgttggac agcaatcata cagtgggtgt cctggccagc acccatcacc
     1561 ctgaaggctc cgcagcggcc tggagtacca cagtcctcat ctacactagt gatgacaccc
     1621 acgcacaccc caaccacagt atccctgtga ctcttcgcct gcgtggggta cctcctggct
     1681 tggatcttgt ctacatagta ctctacttag acaatcaact cagcagcccc tacagtgcgt
     1741 ggcagcacat gggccagcca gtcttcccct ctgcagagca gttccgacgt atgcgcatgg
     1801 tggaggaccc cgtggctgag gcaccacgcc cctttcctgc taggggccgc ctgaccctac
     1861 accggaagct tccggtgcca tcactcctgc tggtgcatgt atgcacacgc cccttgaagc
     1921 cacctgggca ggtcagccgg ctccgtgcac tgcccctgac acatggacag ctgattttgg
     1981 tctggtcaga tgagcgtgtg ggctccaagt gcctgtggac atatgagatc cagttttccc
     2041 agaaaggtga agagtatgcc ccaatcaaca ggaggccgtc tacttttaac ctctttgtgt
     2101 tcagcccaga cacagctgtg gtctctggct cctaccgagt tcgagcattg gattactggg
     2161 cccggccagg ccccttctcc gaccctgtga cttacctgga tgtccctgcc tcatgagagc
     2221 cactggctcc tagtgacttg tgaatctgtg ctgactggtg aatggagtca accagtatga
     2281 gctagactgc cattagctag gcagctgact gtcagcttct attgttcttc ccctatttcc
     2341 ctttaaagtg tctttctcta cctcagactt agggtcagtc tttgtggcta agcactttat
     2401 aggcccagtt ggagtgacct ttgcccacct tcctccccat gcccagctgt tcaaaaagtt
     2461 taaatgtggg actggaaaga tggctcagta gataaagtgc ttgctgtgca ggcccaggga
     2521 cttgtgttca gatatctagc actcatgtat aggctgggca tggcaatata tgcctattgt
     2581 cctagtgttg gtggaaggga cagagacagg ccagggttcc ctggccttcc agtctacctg
     2641 aaactgcaag ctccaggttc agtaagaaac cctgttttag aaaaatcaag tagagtgctt
     2701 ggtacacaca cacacacaca cacacacaca cacacagagt ctaaatttag tttcttgagc
     2761 ttctgtaata tcaaaaatga agttatgtac ttctgaaata caatactgca cagagtaagc
     2821 atcttcattc caacaggaaa aagaaatgac agggaaggat ttaagtgaaa caagaccaaa
     2881 gcatagcaag acaaacgtta aatcctgcag ctccattctc agcatcgggg cccatgatcc
     2941 tgtgatgtgc tggacagtct gtgtctgtgg tgttgccatt tccagccgcc atgacctttc
     3001 tcctaggctg gtgtcttggg cttcctattg attcgataaa ccgcgatgaa tgagcagaag
     3061 catctgggta gggaagcgtt gacttcactt gtattcctac attacagtct atcatcgaag
     3121 gcagtcaggc aggcacctgg aggcaggaag tcatggagag gccatggagg ggtgctgctt
     3181 actcagacta tgatcttaca catcccggga tcaccagcca aagggtgggc ccccacccac
     3241 aacggtctgg accctcccac atcaatcact agtttaagaa aacaggctta tctataggtc
     3301 aatcttgttg gggcattttt ctcaattgag gttccttctt cccaaatgac tctagcttgt
     3361 aataaactga aataaagcca ccccaatctt gccacacatt acctggcctc ccaagtcttc
     3421 ctttgaaatc tgggtggaag ccaacataac cctgtcactg taactctgat attctacctt
     3481 ctaagccagc atcctgtgga tcacagccta ctatcagctt gagtggtagt tgaggactcc
     3541 tgggtcatcc atggctacaa taagcatgaa gtgcctgagg cttagtccca tgcatttgtg
     3601 gagaatatta tgatgatgat atctagtaga ggggggaggc tgttcacctc aaagggaaca
     3661 ggaagtagag tggggataga attaagctaa atacttcttc actgacccgc tttgtttaac
     3721 tcagccctgc atcctaaagt ttctagaatc tccccaaaca gacctattac ctggaaacta
     3781 cctttaaggt gtaagcctgg gctgatctta ataggctgat gttcctacct tggttctggc
     3841 cacgggaaga accctctctc ctttagtaca aacccctggt gtgccccacc agagagcctg
     3901 ttggacacac gtgtccttaa ttcattctgc acatttttct tctctccatc agcacacaga
     3961 agttcagcat acagaggttt gtgctgaaat gtaggcgtac tcccaagctc tccccagagt
     4021 actatcacct actgtccagg aaatgagtct gagtgcagtg ctcatataca ctgcatggct
     4081 acatccaaag tcagagttcc tctgccctca tgcctcttga agtgaacgaa atgtgatgac
     4141 cttctgcagg gtgtttttta gtcctctgtg gaccctaggc tggccttggc atcttggctc
     4201 acctgtccca gagttactac tattaagatt acaggtgtgt accaccatgc ctgccaatta
     4261 cctctcactt taaataaaat atgacattt
//
