LOCUS       NM_000203               2174 bp    mRNA    linear   PRI 09-OCT-2023
DEFINITION  Homo sapiens alpha-L-iduronidase (IDUA), transcript variant 1,
            mRNA.
ACCESSION   NM_000203
VERSION     NM_000203.5
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 2174)
  AUTHORS   Xia J, Liu M, Luo X, Yang H and Yu L.
  TITLE     A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings
  JOURNAL   Clin Pediatr (Phila) 62 (11), 1310-1314 (2023)
   PUBMED   36951468
  REMARK    GeneRIF: A Novel IDUA Mutation Causing Ocular Disease in 2
            Siblings.
REFERENCE   2  (bases 1 to 2174)
  AUTHORS   He P, Jiang F, Wu LF, Zhou X, Lei SF and Deng FY.
  TITLE     Why SNP rs3755955 is associated with human bone mineral density? A
            molecular and cellular study in bone cells
  JOURNAL   Mol Cell Biochem 477 (2), 455-468 (2022)
   PUBMED   34783964
  REMARK    GeneRIF: Why SNP rs3755955 is associated with human bone mineral
            density? A molecular and cellular study in bone cells.
REFERENCE   3  (bases 1 to 2174)
  AUTHORS   Hurt SC, Dickson PI and Curiel DT.
  TITLE     Mucopolysaccharidoses type I gene therapy
  JOURNAL   J Inherit Metab Dis 44 (5), 1088-1098 (2021)
   PUBMED   34189746
  REMARK    GeneRIF: Mucopolysaccharidoses type I gene therapy.
            Review article
REFERENCE   4  (bases 1 to 2174)
  AUTHORS   Clarke,L.A.
  TITLE     Mucopolysaccharidosis Type I
  JOURNAL   (in) Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW
            and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301341
REFERENCE   5  (bases 1 to 2174)
  AUTHORS   Scott HS, Litjens T, Hopwood JJ and Morris CP.
  TITLE     PCR detection of two RFLPs in exon I of the alpha-L-iduronidase
            (IDUA) gene
  JOURNAL   Hum Genet 90 (3), 327 (1992)
   PUBMED   1362562
REFERENCE   6  (bases 1 to 2174)
  AUTHORS   Scott HS, Guo XH, Hopwood JJ and Morris CP.
  TITLE     Structure and sequence of the human alpha-L-iduronidase gene
  JOURNAL   Genomics 13 (4), 1311-1313 (1992)
   PUBMED   1505961
REFERENCE   7  (bases 1 to 2174)
  AUTHORS   Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ and Morris
            CP.
  TITLE     alpha-L-iduronidase mutations (Q70X and P533R) associate with a
            severe Hurler phenotype
  JOURNAL   Hum Mutat 1 (4), 333-339 (1992)
   PUBMED   1301941
REFERENCE   8  (bases 1 to 2174)
  AUTHORS   Scott HS, Anson DS, Orsborn AM, Nelson PV, Clements PR, Morris CP
            and Hopwood JJ.
  TITLE     Human alpha-L-iduronidase: cDNA isolation and expression
  JOURNAL   Proc Natl Acad Sci U S A 88 (21), 9695-9699 (1991)
   PUBMED   1946389
REFERENCE   9  (bases 1 to 2174)
  AUTHORS   MacDonald ME, Scott HS, Whaley WL, Pohl T, Wasmuth JJ, Lehrach H,
            Morris CP, Frischauf AM, Hopwood JJ and Gusella JF.
  TITLE     Huntington disease-linked locus D4S111 exposed as the
            alpha-L-iduronidase gene
  JOURNAL   Somat Cell Mol Genet 17 (4), 421-425 (1991)
   PUBMED   1832239
REFERENCE   10 (bases 1 to 2174)
  AUTHORS   Scott HS, Ashton LJ, Eyre HJ, Baker E, Brooks DA, Callen DF,
            Sutherland GR, Morris CP and Hopwood JJ.
  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     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M74715.1 and AC019103.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 20, 2018 this sequence version replaced NM_000203.4.
            
            Summary: This gene encodes an enzyme that hydrolyzes the terminal
            alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan
            sulfate and heparan sulfate. This hydrolysis is required for the
            lysosomal degradation of these glycosaminoglycans. Mutations in
            this gene that result in enzymatic deficiency lead to the autosomal
            recessive disease mucopolysaccharidosis type I (MPS I). [provided
            by RefSeq, Jul 2008].
            
            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 :: M74715.1, AK291816.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000514224.2/ ENSP00000425081.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-139               M74715.1           48-186
            140-140             AC019103.8         64186-64186
            141-392             M74715.1           188-439
            393-393             AC019103.8         77667-77667
            394-2108            M74715.1           441-2155
            2109-2174           AC019103.8         81502-81567
FEATURES             Location/Qualifiers
     source          1..2174
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2174
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /note="alpha-L-iduronidase"
                     /db_xref="GeneID:3425"
                     /db_xref="HGNC:HGNC:5391"
                     /db_xref="MIM:252800"
     exon            1..199
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..2003
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /EC_number="3.2.1.76"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; mucopolysaccharidosis type I; iduronidase
                     alpha-L-"
                     /codon_start=1
                     /product="alpha-L-iduronidase isoform a precursor"
                     /protein_id="NP_000194.2"
                     /db_xref="CCDS:CCDS3343.1"
                     /db_xref="GeneID:3425"
                     /db_xref="HGNC:HGNC:5391"
                     /db_xref="MIM:252800"
                     /translation="MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLR
                     RFWRSTGFCPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGS
                     TGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLA
                     RRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRL
                     GGPGDSFHTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQE
                     KVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLL
                     ANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGL
                     LALLDEEQLWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHP
                     NRSVAVTLRLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRLGRPVFPTAEQFRRMRAAE
                     DPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLTQGQLVL
                     VWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALD
                     YWARPGPFSDPVPYLEVPVPRGPPSPGNP"
     exon            200..340
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            341..426
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            427..534
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            535..630
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            631..833
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            834..1013
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1230
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1443
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1565
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1691
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..1768
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1869
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     exon            1870..2174
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2098..2103
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /note="hexamer: AATATA"
     polyA_site      2116
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
                     /note="major polyA site"
     polyA_site      2174
                     /gene="IDUA"
                     /gene_synonym="IDA; MPS1; MPSI"
ORIGIN      
        1 agtgcagccc gaagccccgc agtccccgag cacgcgtggc catgcgtccc ctgcgccccc
       61 gcgccgcgct gctggcgctc ctggcctcgc tcctggccgc gcccccggtg gccccggccg
      121 aggccccgca cctggtgcat gtggacgcgg cccgcgcgct gtggcccctg cggcgcttct
      181 ggaggagcac aggcttctgc cccccgctgc cacacagcca ggctgaccag tacgtcctca
      241 gctgggacca gcagctcaac ctcgcctatg tgggcgccgt ccctcaccgc ggcatcaagc
      301 aggtccggac ccactggctg ctggagcttg tcaccaccag ggggtccact ggacggggcc
      361 tgagctacaa cttcacccac ctggacgggt acctggacct tctcagggag aaccagctcc
      421 tcccagggtt tgagctgatg ggcagcgcct cgggccactt cactgacttt gaggacaagc
      481 agcaggtgtt tgagtggaag gacttggtct ccagcctggc caggagatac atcggtaggt
      541 acggactggc gcatgtttcc aagtggaact tcgagacgtg gaatgagcca gaccaccacg
      601 actttgacaa cgtctccatg accatgcaag gcttcctgaa ctactacgat gcctgctcgg
      661 agggtctgcg cgccgccagc cccgccctgc ggctgggagg ccccggcgac tccttccaca
      721 ccccaccgcg atccccgctg agctggggcc tcctgcgcca ctgccacgac ggtaccaact
      781 tcttcactgg ggaggcgggc gtgcggctgg actacatctc cctccacagg aagggtgcgc
      841 gcagctccat ctccatcctg gagcaggaga aggtcgtcgc gcagcagatc cggcagctct
      901 tccccaagtt cgcggacacc cccatttaca acgacgaggc ggacccgctg gtgggctggt
      961 ccctgccaca gccgtggagg gcggacgtga cctacgcggc catggtggtg aaggtcatcg
     1021 cgcagcatca gaacctgcta ctggccaaca ccacctccgc cttcccctac gcgctcctga
     1081 gcaacgacaa tgccttcctg agctaccacc cgcacccctt cgcgcagcgc acgctcaccg
     1141 cgcgcttcca ggtcaacaac acccgcccgc cgcacgtgca gctgttgcgc aagccggtgc
     1201 tcacggccat ggggctgctg gcgctgctgg atgaggagca gctctgggcc gaagtgtcgc
     1261 aggccgggac cgtcctggac agcaaccaca cggtgggcgt cctggccagc gcccaccgcc
     1321 cccagggccc ggccgacgcc tggcgcgccg cggtgctgat ctacgcgagc gacgacaccc
     1381 gcgcccaccc caaccgcagc gtcgcggtga ccctgcggct gcgcggggtg ccccccggcc
     1441 cgggcctggt ctacgtcacg cgctacctgg acaacgggct ctgcagcccc gacggcgagt
     1501 ggcggcgcct gggccggccc gtcttcccca cggcagagca gttccggcgc atgcgcgcgg
     1561 ctgaggaccc ggtggccgcg gcgccccgcc ccttacccgc cggcggccgc ctgaccctgc
     1621 gccccgcgct gcggctgccg tcgcttttgc tggtgcacgt gtgtgcgcgc cccgagaagc
     1681 cgcccgggca ggtcacgcgg ctccgcgccc tgcccctgac ccaagggcag ctggttctgg
     1741 tctggtcgga tgaacacgtg ggctccaagt gcctgtggac atacgagatc cagttctctc
     1801 aggacggtaa ggcgtacacc ccggtcagca ggaagccatc gaccttcaac ctctttgtgt
     1861 tcagcccaga cacaggtgct gtctctggct cctaccgagt tcgagccctg gactactggg
     1921 cccgaccagg ccccttctcg gaccctgtgc cgtacctgga ggtccctgtg ccaagagggc
     1981 ccccatcccc gggcaatcca tgagcctgtg ctgagcccca gtgggttgca cctccaccgg
     2041 cagtcagcga gctggggctg cactgtgccc atgctgccct cccatcaccc cctttgcaat
     2101 atatttttat attttattat tttcttttat atcttggtac caacgccccc tttaaagcgg
     2161 ctttgcacag gtca
//
