LOCUS       AF410457                3298 bp    mRNA    linear   HUM 25-JUN-2002
DEFINITION  Homo sapiens putative polypeptide N-acetylgalactosaminyltransferase
            (WBSCR17) mRNA, complete cds.
ACCESSION   AF410457
VERSION     AF410457.1
KEYWORDS    .
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 3298)
  AUTHORS   Merla,G., Ucla,C., Guipponi,M. and Reymond,A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum. Genet. 110 (5), 429-438 (2002)
   PUBMED   12073013
REFERENCE   2  (bases 1 to 3298)
  AUTHORS   Falciola,V., Guipponi,M. and Reymond,A.
  TITLE     Direct Submission
  JOURNAL   Submitted (15-AUG-2001) Division of Medical Genetics, University of
            Geneva Medical School, CMU, 1, rue Michel Servet, Geneva, GE 1211,
            Switzerland
FEATURES             Location/Qualifiers
     source          1..3298
                     /db_xref="H-InvDB:HIT000079210"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3298
                     /gene="WBSCR17"
                     /note="Williams-Beuren Syndrome critical region gene 17"
     CDS             1..1797
                     /gene="WBSCR17"
                     /codon_start=1
                     /product="putative polypeptide
                     N-acetylgalactosaminyltransferase"
                     /protein_id="AAM62306.1"
                     /translation="MASLRRVKVLLVLNLIAVAGFVLFLAKCRPIAVRSGDAFHEIRP
                     RAEVANLSAHSASPIQDAVLKRLSLLEDIVYRQLNGLSKSLGLIEGYGGRGKGGLPAT
                     LSPAEEEKAKGPHEKYGYNSYLSEKISLDRSIPDYRPTKCKELKYSKDLPQISIIFIF
                     VNEALSVILRSVHSAVNHTPTHLLKEIILVDDNSDEEELKVPLEEYVHKRYPGLVKVV
                     RNQKREGLIRARIEGWKVATGQVTGFFDAHVEFTAGWAEPVLSRIQENRKRVILPSID
                     NIKQDNFEVQRYENSAHGYSWELWCMYISPPKDWWDAGDPSLPIRTPAMIGCSFVVNR
                     KFFGEIGLLDPGMDVYGGENIELGIKVWLCGGSMEVLPCSRVAHIERKKKPYNSNIGF
                     YTKRNALRVAEVWMDDYKSHVYIAWNLPLENPGIDIGDVSERRALRKSLKCKNFQWYL
                     DHVYPEMRRYNNTVAYGELRNNKAKDVCLDQGPLENHTAILYPCHGWGPQLARYTKEG
                     FLHLGALGTTTLLPDTRCLVDNSKSRLPQLLDCDKVKSSLYKRWNFIQNGAIMNKGTG
                     RCLEVENRGLAGIDLILRSCTGQRWTIKNSIK"
BASE COUNT          754 a          930 c          925 g          689 t
ORIGIN      
        1 atggcttcac tgagaagagt caaagtgctg ttggtgttga acttgatcgc ggtagccggc
       61 ttcgtgctct tcctggccaa gtgccggccc atcgcggtgc gcagcggaga cgccttccac
      121 gagatccggc cgcgcgccga ggtggccaac ctcagcgcgc acagcgccag ccccatccag
      181 gatgcggtcc tgaagcgcct gtcgctgctg gaggacatcg tgtaccggca gctgaatggc
      241 ttatccaaat cccttgggct cattgaaggt tatggtgggc ggggtaaagg gggccttccg
      301 gctactcttt ccccggctga agaagaaaag gctaagggac cccatgagaa gtatggctac
      361 aattcatacc tcagtgaaaa aatttcactg gaccgttcca ttccggatta tcgtcccacc
      421 aagtgtaagg agctcaagta ctccaaggac ctgccccaga tatccatcat attcatcttc
      481 gtgaacgagg ccctgtcggt gatcctgcgg tccgtgcaca gtgccgtcaa tcacacgccc
      541 acacacctgc tgaaggaaat cattctggtg gatgacaaca gcgacgaaga ggagctgaag
      601 gtccccctag aggagtatgt ccacaaacgc taccccgggc tggtgaaggt ggtaagaaat
      661 cagaagaggg aaggcctgat ccgcgctcgc attgagggct ggaaggtggc taccgggcag
      721 gtcactggct tctttgatgc ccacgtggaa ttcaccgctg gctgggctga gccggttcta
      781 tcccgcatcc aggaaaaccg gaagcgtgtg atcctcccct ccattgacaa catcaaacag
      841 gacaactttg aggtgcagcg gtacgagaac tcggcccacg ggtacagctg ggagctgtgg
      901 tgcatgtaca tcagcccccc aaaagactgg tgggacgccg gagacccttc tctccccatc
      961 aggaccccag ccatgatagg ctgctcgttc gtggtcaaca ggaagttctt cggtgaaatt
     1021 ggtcttctgg atcctggcat ggatgtatac ggaggagaaa atattgaact gggaatcaag
     1081 gtatggctct gtgggggcag catggaggtc cttccttgct cacgggtggc ccacattgag
     1141 cggaagaaga agccatataa tagcaacatt ggcttctaca ccaagaggaa tgctcttcgc
     1201 gttgctgagg tctggatgga cgattacaag tctcatgtgt acatagcgtg gaacctgccg
     1261 ctggagaatc cgggaattga catcggtgat gtctccgaaa gaagagcatt aaggaaaagt
     1321 ttaaagtgta agaatttcca gtggtacctg gaccatgttt acccagaaat gagaagatac
     1381 aataataccg ttgcttacgg ggagcttcgc aacaacaagg caaaagacgt ctgcttggac
     1441 caggggccgc tggagaacca cacagcaata ttgtatccgt gccatggctg gggaccacag
     1501 cttgcccgct acaccaagga aggcttcctg cacttgggtg ccctggggac caccacactc
     1561 ctccctgaca cccgctgcct ggtggacaac tccaagagtc ggctgcccca gctcctggac
     1621 tgcgacaagg tcaagagcag cctgtacaag cgctggaact tcatccagaa tggagccatc
     1681 atgaacaagg gcacgggacg ctgcctggag gtggagaacc ggggcctggc tggcatcgac
     1741 ctcatcctcc gcagctgcac aggtcagagg tggaccatta agaactccat caagtagagg
     1801 gagggagctg gggcactgga gcctggcccc caggacatgg ctgctccccc caacatctgg
     1861 accagctgcc ctggcggaga gacagcaagg ggccggcagg tgctcgatgg gccccccagg
     1921 gcttctccag ggcagcacag ggaccccgga tgaagactct gtcccccctc aggcattcag
     1981 ctgcccacaa gtttcctgca ccctggaaaa gccccccacc cttcctctgg gaaactgaca
     2041 gctgtcttcc acagcctctg atgtggacct ggtactgagg agcaagactg tccagttctc
     2101 ctccacatct cccatcccag aatcaggatc tgggactggc agggtcccct cctgtgtctc
     2161 atctcttgca gcagcagctg ctgaactcca gccatcaaca cggtgggagg cagcgggggc
     2221 ttcagccatg tcctagctcc ccgccctaaa aggaggcagt gaggaccagg cactatttcc
     2281 tccgaggtta cttctaccca gatgacacct gcctgttcac gccccaaggc agctactgcc
     2341 cctaaccctt cccaccaggg tagctttggg cactgcagct ctggactttt ctggcccctc
     2401 ctgagatgac ctgatggagc tgatgctttc tctcctaatc cctgggcact aggctcttat
     2461 cagtgtgctt gggccagctc tcctgcctgt gtctagagga agccagagac agaaataggc
     2521 taagcctgca gtaggatctc agccacaagg gccccgcagg atggagctgg gtcaaggacc
     2581 agggagccct gactcccaga ggctgccacc ggggagaagc agcggtcctc catccagaac
     2641 ctaagggctg aagcaaaggc tgccaggacc cttgaagatg cttttggctc acctcatttc
     2701 accccacgct ctgctggctg gcagaggaga aggcagtcgt ttcctctctg aagagtattt
     2761 ttttcgattg ccctctggtt agggtgcaca tataaatcag agttaatata tgaacgcgtg
     2821 tgcatgcaca agtgtgtgtg tgcctgcgtg ctgtgcgtgg cagggtgtgt gtgtgtgtgt
     2881 ctggctgtgc gttccggagt gtgtgacgat gctgacctag ctgtgtggcc ttgggcttgc
     2941 tgcttcatta ctcacctgga tggggacgag ggatgagaag ggtgtgggtt tggccccatg
     3001 tcactggccg gaaggatgtg tctcagccct gccctgtggg gtgcccccga tgggaggctg
     3061 tcccatctcc cagtccccat ctctttttcc ccacactgtc cctggccaag ccctgcccag
     3121 agctgaaccc tgtagctgcc cccttgccct gtgtgggatt cgcagtgtct catttggtga
     3181 cgtcttactg gtgatcatct cctcacccca tctcccacct tgtggaataa atacatgtta
     3241 gcacttccca aaaaaaaaaa aaaaaaaaaa aaaaaaaaga aaaaaaaaaa aaaaaaaa
//