LOCUS       HUMGCBL                 1792 bp    mRNA    linear   HUM 24-FEB-2004
DEFINITION  Homo sapiens lysosomal glucocerebrosidase precursor mRNA, complete
            cds.
ACCESSION   K02920
VERSION     K02920.1
KEYWORDS    glucocerebrosidase.
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 1792)
  AUTHORS   Tsuji,S., Choudary,P.V., Martin,B.M., Winfield,S., Barranger,J.A.
            and Ginns,E.I.
  TITLE     Nucleotide sequence of cDNA containing the complete coding sequence
            for human lysosomal glucocerebrosidase
  JOURNAL   J. Biol. Chem. 261 (1), 50-53 (1986)
   PUBMED   3001061
REFERENCE   2  (bases 1 to 1792)
  AUTHORS   Tsuji,S., Choudary,P.V., Martin,B.M., Winfield,S., Barranger,J.A.
            and Ginns,E.I.
  TITLE     Direct Submission
  JOURNAL   Submitted (01-AUG-1985) Molecular and Medical Genetics Section,
            Developmental and Metabolic Neurology Branch, Intramural Research
            Program, National Institute of Neurological and Communicative
            Disorders and Stroke, National Institutes of Health, Bethesda, MD,
            20892
COMMENT     A preprint for [1] was kindly provided by E.I.Ginns, 01-AUG-1985
            Glucocerebrosidase is a membrane bound lysosomal enzyme, which
            catalyzes the hydrolysis of glucocerebrosidase.  Allelic mutations
            in the gene coding for glucocerebrosidase cause the alteration of
            normal synthesis and/or processing, resulting in sphingolipidosis.
            The precise nature of the genetic changes resulting in the three
            phenotypes of this disease have not yet been determined.  The
            glucocerebrosidase sequence reported by [1] differs by one AA from
            human placental glucocerebrosidase.
FEATURES             Location/Qualifiers
     source          1..1792
                     /db_xref="H-InvDB:HIT000191399"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     CDS             46..1596
                     /EC_number="3.2.1.45"
                     /codon_start=1
                     /product="lysosomal glucocerebrosidase precursor"
                     /protein_id="AAA35877.1"
                     /translation="MAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDS
                     FDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGG
                     AMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
                     FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKG
                     QPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQR
                     DLIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLD
                     FLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLY
                     HVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGS
                     QRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSI
                     HTYLWRRQ"
     sig_peptide     46..102
     mat_peptide     103..1593
                     /product="lysosomal glucocerebrosidase"
BASE COUNT          406 a          528 c          466 g          392 t
ORIGIN      
        1 ccttccagag aggaatgtcc caagcctttg agtagggtaa gcatcatggc tggcagcctc
       61 acaggattgc ttctacttca ggcagtgtcg tgggcatcag gtgcccgccc ctgcatccct
      121 aaaagcttcg gctacagctc ggtggtgtgt gtctgcaatg ccacatactg tgactccttt
      181 gaccccccga cctttcctgc ccttggtacc ttcagccgct atgagagtac acgcagtggg
      241 cgacggatgg agctgagtat ggggcccatc caggctaatc acacgggcac aggcctgcta
      301 ctgaccctgc agccagaaca gaagttccag aaagtgaagg gatttggagg ggccatgaca
      361 gatgctgctg ctctcaacat ccttgccctg tcaccccctg cccaaaattt gctacttaaa
      421 tcgtacttct ctgaagaagg aatcggatat aacatcatcc gggtacccat ggccagctgt
      481 gacttctcca tccgcaccta cacctatgca gacacccctg atgatttcca gttgcacaac
      541 ttcagcctcc cagaggaaga taccaagctc aagatacccc tgattcaccg agcactgcag
      601 ttggcccagc gtcccgtttc actccttgcc agcccctgga catcacccac ttggctcaag
      661 accaatggag cggtgaatgg gaaggggtca ctcaagggac agcccggaga catctaccac
      721 cagacctggg ccagatactt tgtgaagttc ctggatgcct atgctgagca caagttacag
      781 ttctgggcag tgacagctga aaatgagcct tctgctgggc tgttgagtgg ataccccttc
      841 cagtgcctgg gcttcacccc tgaacatcag cgagacttaa ttgcccgtga cctaggtcct
      901 accctcgcca acagtactca ccacaatgtc cgcctactca tgctggatga ccaacgcttg
      961 ctgctgcccc actgggcaaa ggtggtactg acagacccag aagcagctaa atatgttcat
     1021 ggcattgctg tacattggta cctggacttt ctggctccag ccaaagccac cctaggggag
     1081 acacaccgcc tgttccccaa caccatgctc tttgcctcag aggcctgtgt gggctccaag
     1141 ttctgggagc agagtgtgcg gctaggctcc tgggatcgag ggatgcagta cagccacagc
     1201 atcatcacga acctcctgta ccatgtggtc ggctggaccg actggaacct tgccctgaac
     1261 cccgaaggag gacccaattg ggtgcgtaac tttgtcgaca gtcccatcat tgtagacatc
     1321 accaaggaca cgttttacaa acagcccatg ttctaccacc ttggccattt cagcaagttc
     1381 attcctgagg gctcccagag agtggggctg gttgccagtc agaagaacga cctggacgca
     1441 gtggcattga tgcatcccga tggctctgct gttgtggtcg tgctaaaccg ctcctctaag
     1501 gatgtgcctc ttaccatcaa ggatcctgct gtgggcttcc tggagacaat ctcacctggc
     1561 tactccattc acacctacct gtggcgtcgc cagtgatgga gcagatactc aaggaggcac
     1621 tgggctcagc ctgggcatta aagggacaga gtcagctcac acgctgtctg tgactaaaga
     1681 gggcacagca gggccagtgt gagcttacag cgacgtaagc ccaggggcaa tggtttgggt
     1741 gactcacttt cccctctagg tggtgccagg ggctggaggc ccctagaaaa ag
//