LOCUS HSU84011 7178 bp mRNA linear HUM 04-MAR-1997 DEFINITION Human glycogen debranching enzyme isoform 6 (AGL) mRNA, alternatively spliced isoform, complete cds. ACCESSION U84011 VERSION U84011.1 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 7178) AUTHORS Bao,Y., Dawsom,T.L. and Chen,Y.-T. TITLE Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region JOURNAL Genomics 38 (1997) In press REFERENCE 2 (bases 1 to 7178) AUTHORS Bao,Y., Dawsom,T.L. and Chen,Y.-T. TITLE Direct Submission JOURNAL Submitted (07-JAN-1997) Pediatrics, Duke University Medical Center, Box 3528, Durham, NC 27710, USA FEATURES Location/Qualifiers source 1..7178 /db_xref="H-InvDB:HIT000221852" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p21" gene 1..7178 /gene="AGL" CDS 260..4810 /gene="AGL" /EC_number="2.4.1.25" /note="alternatively spliced isoform" /codon_start=1 /product="glycogen debranching enzyme isoform 6" /protein_id="AAB48470.1" /translation="MAPLLSINLFIGYELQFRLGPTLQGKAVTVYTNYPFPGETFNRE KFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGAD NHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLA NQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPEC AYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDI FPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDM NIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYER LAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDD PLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVR LDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMS AYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDA LPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGI IAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKT SFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSINGTPDITVEIREHIQLNE SKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHAQVAVGILRNHLTQFSP HFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESEEKEDGGGCYDIPNWSA LKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSNRLISRSGTIAEVGKWL QAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFVQNGSTFVKHLSLGSVQ LCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGLPHFSSGIFRCWGRDTF IALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYARYNCRDAVWWWLQCIQ DYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVIQEAMQKHMQGIQFRER NAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDKMGESDRARNRGIPATP RDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAIKVSYDEWNRKIQDNFE KLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPNFTIAMVVAPELFTT EKAGKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLAKGFNYHQGPEWL WPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGLPELTNENAQY CPFSCETQAWSIATILETLYDL" BASE COUNT 2315 a 1206 c 1412 g 2245 t ORIGIN 1 gggtaactca ttcgactgtg gagttctttt aattcttatg aaagatttca aatcctctgg 61 aagccaaaat gggacacagt aaacagattc gaattttact tctgaacgaa atggagaaac 121 tggaaaagac cctcttcaga cttgaacaag aaactgggtc tcactatgtt gcccaggttg 181 atattgaact cctggactca agcaaccctc cctctttggc ctctgaaagt actgggatta 241 caagcataag ccaccgggca tggccccact tctgagcatt aatttattta ttgggtatga 301 gctacagttc cgattaggcc caactttaca gggaaaagca gttaccgtgt atacaaatta 361 cccatttcct ggagaaacat ttaatagaga aaaattccgt tctctggatt gggaaaatcc 421 aacagaaaga gaagatgatt ctgataaata ctgtaaactt aatctgcaac aatctggttc 481 atttcagtat tatttccttc aaggaaatga gaaaagtggt ggaggttaca tagttgtgga 541 ccccatttta cgtgttggtg ctgataatca tgtgctaccc ttggactgtg ttactcttca 601 gacattttta gctaagtgtt tgggaccttt tgatgaatgg gaaagcagac ttagggttgc 661 aaaagaatca ggctacaaca tgattcattt taccccattg cagactcttg gactatctag 721 gtcatgctac tcccttgcca atcagttaga attaaatcct gacttttcaa gacctaatag 781 aaagtatacc tggaatgatg ttggacagct agtggaaaaa ttaaaaaagg aatggaatgt 841 tatttgtatt actgatgttg tctacaatca tactgctgct aatagtaaat ggatccagga 901 acatccagaa tgtgcctata atcttgtgaa ttctccacac ttaaaacctg cctgggtctt 961 agacagagca ctttggcgtt tctcctgtga tgttgcagaa gggaaataca aagaaaaggg 1021 aatacctgct ttgattgaaa atgatcacca tatgaattcc atccgaaaaa taatttggga 1081 ggatattttt ccaaagctta aactctggga atttttccaa gtagatgtca acaaagcggt 1141 tgagcaattt agaagacttc ttacacaaga aaataggcga gtaaccaagt ctgatccaaa 1201 ccaacacctt acgattattc aagatcctga atacagacgg tttggctgta ctgtagatat 1261 gaacattgca ctaacgactt tcataccaca tgacaagggg ccagcagcaa ttgaagaatg 1321 ctgtaattgg tttcataaaa gaatggagga attaaattca gagaagcatc gactcattaa 1381 ctatcatcag gaacaggcag ttaattgcct tttgggaaat gtgttttatg aacgactggc 1441 tggccatggt ccaaaactag gacctgtcac tagaaagcat cctttagtta ccaggtattt 1501 tactttccca tttgaagaga tagacttctc catggaagaa tctatgattc atctgccaaa 1561 taaagcttgt tttctgatgg cacacaatgg atgggtaatg ggagatgatc ctcttcgaaa 1621 ctttgctgaa ccgggttcag aagtttacct aaggagagaa cttatttgct ggggagacag 1681 tgttaaatta cgctatggga ataaaccaga ggactgtcct tatctctggg cacacatgaa 1741 aaaatacact gaaataactg caacttattt ccagggagta cgtcttgata actgccactc 1801 aacacctctt cacgtagctg agtacatgtt ggatgctgct aggaatttgc aacccaattt 1861 atatgtagta gctgaactgt tcacaggaag tgaagatctg gacaatgtct ttgttactag 1921 actgggcatt agttccttaa taagagaggc aatgagtgca tataatagtc atgaagaggg 1981 cagattagtt taccgatatg gaggagaacc tgttggatcc tttgttcagc cctgtttgag 2041 gcctttaatg ccagctattg cacatgccct gtttatggat attacgcatg ataatgagtg 2101 tcctattgtg catagatcag cgtatgatgc tcttccaagt actacaattg tttctatggc 2161 atgttgtgct agtggaagta caagaggcta tgatgaatta gtgcctcatc agatttcagt 2221 ggtttctgaa gaacggtttt acactaagtg gaatcctgaa gcattgcctt caaacacagg 2281 tgaagttaat ttccaaagcg gcattattgc agccaggtgt gctatcagta aacttcatca 2341 ggagcttgga gccaagggtt ttattcaggt gtatgtggat caagttgatg aagacatagt 2401 ggcagtaaca agacactcac ctagcatcca tcagtctgtt gtggctgtat ctagaactgc 2461 tttcaggaat cccaagactt cattttacag caaggaagtg cctcaaatgt gcatccctgg 2521 caaaattgaa gaagtagttc ttgaagctag aactattgag agaaacacga aaccttatag 2581 gaaggatgag aattcaatca atggaacacc agatatcaca gtagaaatta gagaacatat 2641 tcagcttaat gaaagtaaaa ttgttaaaca agctggagtt gccacaaaag ggcccaatga 2701 atatattcaa gaaatagaat ttgaaaactt gtctccagga agtgttatta tattcagagt 2761 tagtcttgat ccacatgcac aagtcgctgt tggaattctt cgaaatcatc tgacacaatt 2821 cagtcctcac tttaaatctg gcagcctagc tgttgacaat gcagatccta tattaaaaat 2881 tccttttgct tctcttgcct ccagattaac tttggctgag ctaaatcaga tcctttaccg 2941 atgtgaatca gaagaaaagg aagatggtgg agggtgctat gacataccaa actggtcagc 3001 ccttaaatat gcaggtcttc aaggtttaat gtctgtattg gcagaaataa gaccaaagaa 3061 tgacttgggg catccttttt gtaataattt gagatctgga gattggatga ttgactatgt 3121 cagtaaccgg cttatttcac gatcaggaac tattgctgaa gttggtaaat ggttgcaggc 3181 tatgttcttc tacctgaagc agatcccacg ttaccttatc ccatgttact ttgatgctat 3241 attaattggt gcatatacca ctcttctgga tacagcatgg aagcagatgt caagctttgt 3301 tcagaatggt tcaacctttg tgaaacacct ttcattgggt tcagttcaac tgtgtggagt 3361 aggaaaattc ccttccctgc caattctttc acctgcccta atggatgtac cttataggtt 3421 aaatgagatc acaaaagaaa aggagcaatg ttgtgtttct ctagctgcag gcttacctca 3481 tttttcttct ggtattttcc gctgctgggg aagggatact tttattgcac ttagaggtat 3541 actgctgatt actggacgct atgtagaagc caggaatatt attttagcat ttgcgggtac 3601 cctgaggcat ggtctcattc ctaatctact gggtgaaggg atttatgcca gatacaattg 3661 tcgggatgct gtgtggtggt ggctgcagtg tatccaggat tactgtaaaa tggttccaaa 3721 tggtctagac attctcaagt gcccagtttc cagaatgtat cctacagatg attctgctcc 3781 tttgcctgct ggcacactgg atcagccatt gtttgaagtc atacaggaag caatgcaaaa 3841 acacatgcag ggcatacagt tccgagaaag gaatgctggt ccccagatag atcgaaacat 3901 gaaggacgaa ggttttaata taactgcagg agttgatgaa gaaacaggat ttgtttatgg 3961 aggaaatcgt ttcaattgtg gcacatggat ggataaaatg ggagaaagtg acagagctag 4021 aaacagagga atcccagcca caccaagaga tgggtctgct gtggaaattg tgggcctgag 4081 taaatctgct gttcgctggt tgctggaatt atccaaaaaa aatattttcc cttatcatga 4141 agtcacagta aaaagacatg gaaaggctat aaaggtctca tatgatgagt ggaacagaaa 4201 aatacaagac aactttgaaa agctatttca tgtttccgaa gacccttcag atttaaatga 4261 aaagcatcca aatctggttc acaaacgtgg catatacaaa gatagttatg gagcttcaag 4321 tccttggtgt gactatcagc tcaggcctaa ttttaccata gcaatggttg tggcccctga 4381 gctctttact acagaaaaag cagggaaagc tttggagatt gcagaaaaaa aattgcttgg 4441 tccccttggc atgaaaactt tagatccaga tgatatggtt tactgtggaa tttatgacaa 4501 tgcattagac aatgacaact acaatcttgc taaaggtttc aattatcacc aaggacctga 4561 gtggctgtgg cctattgggt attttcttcg tgcaaaatta tatttttcca gattgatggg 4621 cccggagact actgcaaaga ctatagtttt ggttaaaaat gttctttccc gacattatgt 4681 tcatcttgag agatcccctt ggaaaggact tccagaactg accaatgaga atgcccagta 4741 ctgtcctttc agctgtgaaa cacaagcctg gtcaattgct actattcttg agacacttta 4801 tgatttatag tttattacag atattaagta tgcaattact gtattatagg atgcaaggtc 4861 atcatatgta aatgctatat gcacaggctc aagttgtttt aaaaatctca tttattataa 4921 tattgatgct caattaggta agattgtaaa agcattgatt ttttttaatg tacagaggta 4981 gatttcaatt tgaatcagaa agaaatatca ttaccaatga aatgtgtttg agttcagtaa 5041 gaattattca aatgcctaga aatccatagt ttggaaaata aaaatcatgt catcttctat 5101 ttgtacagaa atgaaaataa aatatgaaaa taatgaaaga aatgaaaaga tagcttttaa 5161 ttgtggtata tataatcttc agtaacaata catactgaat acgctgtggt tcattaatat 5221 taacaccacg tactatagta ttcttagaat acagtgctca ctgcatttaa taaatattta 5281 ataaatgatg aatgatagaa gtttccatct acaatatatg ttcctaaatg gagcacagat 5341 gttcaaacta tgctttcatt ttttcactga tatattaatt tttgtgtaat gaatgccaac 5401 agtatatttt atatgattta cttatgtgag gaaacatgca aagcattagg aaatttattt 5461 cctaaaaaca gttttgtaaa attagtattg agttctattg agtattataa gatagcttac 5521 attttcaaaa tggaaattgt cggtcatatt tctagaactt taaagaaaaa agaatgttat 5581 attagttttc taaaactcaa ctatctttag tcatgttcaa aaatctattg ctagatcata 5641 gtagatactg gttttctatt aactcaaaac ctacattgac aagtttaaca ttgagaagaa 5701 tcttaacaaa aatatggata tgaattcagt agatatctta aattcaataa aatcactgga 5761 agtttttcat gataacttat tttaagatgc cttaaaaatc ttaaagtcac aaaaggaaaa 5821 aggtttttaa catttacatg agttaacatt ttttcataga acttatttcc tagatagaat 5881 tttttactgt tttttactgt tttcttaaga aaacagttaa atcattatgc attcagttgg 5941 aagaaagtag tggcaagaat tctttcattg ctatataata ttcagtggct catttatacc 6001 taataaaata atggtatttt aaaataatgc tactttcaaa gtagcatttt tttagttagt 6061 ttacaggtta catacccaaa accttaacta tgactaagaa attaaagaag aaaaccagca 6121 aactaaaact tctgggcagc aaaaatatat aaatgcttca gatgtcaaat acccatgctt 6181 gaaagctcgt gtaatttact ttaagattat ctgcctgctc ttcttcaaag ctgaccttgc 6241 tttagaaata gttttaacta gcttagtttt ctggtttcca aaactaaaat agattaaatc 6301 ctacaaattt aaggacagtt gtgacagtaa tctgaccact atctataaat acattggaca 6361 ttggtttcca aatctccctt tctcttcagt tccttccttg ttcaatatat acccttctct 6421 aaactgtgcg ggtaaaagga atgactgtcc ttgagagaac cattagttta tcaaaggttt 6481 atgtagtttt gttgctgtac cctaactttg atattcaggg aggtaggaaa ggtaacagaa 6541 aaccagcata tttaatcaaa gcaagaagta atcgctgaca gttaaatgtg accaaaaaaa 6601 ttaaaagttc acaatttttt taatgtagcc atttggggtt atctctagta aggcagatac 6661 ccacgttggt aaatttttag gatattgtgt tgcactagaa aactaagtgg ttcatatttc 6721 taatgaggaa gattaatgaa agaacattgt tatattctgc gtggtatatt ttaaagttta 6781 agaaggcatg ttaaacatta tttcctctat ggtagttaaa atacagaatt agatttttaa 6841 caggtgtcat ttgactaaac gtttcggtag aatgcttcat acttgagtga tgctggataa 6901 ggtattgtat ttcaacaatg gactatgcct tggtttttca ctaatcaaaa tcaaaattac 6961 tctttaacat gataaatgaa tttaccagtt tagtatgctg tggtatttta ataagttttc 7021 aaagataatt gggaaaacat gagactggtc atattgatga atattgtaac atgtgaattg 7081 tgatccattt ctgatatgtc ttgaactact gtgtctagta ggcaaatgtc attgttacct 7141 ctgtgtgtta agaaaataaa aatattttct aaaggtcg //