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 //