LOCUS HSU84007 7367 bp mRNA linear HUM 07-AUG-2009 DEFINITION Human glycogen debranching enzyme isoform 1 (AGL) mRNA, alternatively spliced isoform, complete cds. ACCESSION U84007 VERSION U84007.1 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 7367) AUTHORS Bao,Y., Dawson,T.L. Jr. and Chen,Y.T. TITLE Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region JOURNAL Genomics 38 (2), 155-165 (1996) PUBMED 8954797 REFERENCE 2 (bases 1 to 7367) 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..7367 /db_xref="H-InvDB:HIT000221848" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p21" gene 1..7367 /gene="AGL" CDS 401..4999 /gene="AGL" /EC_number="2.4.1.25" /note="alternatively spliced isoform" /codon_start=1 /product="glycogen debranching enzyme isoform 1" /protein_id="AAB48466.1" /translation="MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAV TVYTNYPFPGETFNREKFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKS GGGYIVVDPILRVGADNHVLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHF TPLQTLGLSRSCYSLANQLELNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVY NHTAANSKWIQEHPECAYNLVNSPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIE NDHHMNSIRKIIWEDIFPKLKLWEFFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLT IIQDPEYRRFGCTVDMNIALTTFIPHDKGPAAIEECCNWFHKRMEELNSEKHRLINYH QEQAVNCLLGNVFYERLAGHGPKLGPVTRKHPLVTRYFTFPFEEIDFSMEESMIHLPN KACFLMAHNGWVMGDDPLRNFAEPGSEVYLRRELICWGDSVKLRYGNKPEDCPYLWAH MKKYTEITATYFQGVRLDNCHSTPLHVAEYMLDAARNLQPNLYVVAELFTGSEDLDNV FVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEPVGSFVQPCLRPLMPAIAHALFMDI THDNECPIVHRSAYDALPSTTIVSMACCASGSTRGYDELVPHQISVVSEERFYTKWNP EALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQVYVDQVDEDIVAVTRHSPSIH QSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEARTIERNTKPYRKDENSING TPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENLSPGSVIIFRVSLDPHA QVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLTLAELNQILYRCESE EKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNLRSGDWMIDYVSN RLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLDTAWKQMSSFV QNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQCCVSLAAGL PHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLLGEGIYA RYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPLFEVI QEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWMDK MGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAI KVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLR PNFTIAMVVAPELFTTEKAGKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDN YNLAKGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLER SPWKGLPELTNENAQYCPFSCETQAWSIATILETLYDL" BASE COUNT 2317 a 1305 c 1483 g 2262 t ORIGIN 1 cccggaagtg ggccagaggt acggtccgct cccacctggg gcgagtgcgc gcacggccag 61 gttgggtacc gggtgcgccc aggaacccgc gcgaggcgaa gtcgctgaga ctctgcctgc 121 ttctcaccca gctgcctcgg cgctgccccg gtcgctcgcc gcccctccct ttgcccttca 181 cggcgcccgg ccctccttgg gctgcggctt ctgtgcgagg ctgggcagcc agcccttccc 241 cttctgtttc tccccgtccc ctccccccga ccgtagcacc agagtcgcgg gtcctgcagt 301 gccccagaag ccgcacgtat aactccctcg gcgggtaact cattcgactg tggagttctt 361 ttaattctta tgaaagattt caaatcctct ggaagccaaa atgggacaca gtaaacagat 421 tcgaatttta cttctgaacg aaatggagaa actggaaaag accctcttca gacttgaaca 481 agggtatgag ctacagttcc gattaggccc aactttacag ggaaaagcag ttaccgtgta 541 tacaaattac ccatttcctg gagaaacatt taatagagaa aaattccgtt ctctggattg 601 ggaaaatcca acagaaagag aagatgattc tgataaatac tgtaaactta atctgcaaca 661 atctggttca tttcagtatt atttccttca aggaaatgag aaaagtggtg gaggttacat 721 agttgtggac cccattttac gtgttggtgc tgataatcat gtgctaccct tggactgtgt 781 tactcttcag acatttttag ctaagtgttt gggacctttt gatgaatggg aaagcagact 841 tagggttgca aaagaatcag gctacaacat gattcatttt accccattgc agactcttgg 901 actatctagg tcatgctact cccttgccaa tcagttagaa ttaaatcctg acttttcaag 961 acctaataga aagtatacct ggaatgatgt tggacagcta gtggaaaaat taaaaaagga 1021 atggaatgtt atttgtatta ctgatgttgt ctacaatcat actgctgcta atagtaaatg 1081 gatccaggaa catccagaat gtgcctataa tcttgtgaat tctccacact taaaacctgc 1141 ctgggtctta gacagagcac tttggcgttt ctcctgtgat gttgcagaag ggaaatacaa 1201 agaaaaggga atacctgctt tgattgaaaa tgatcaccat atgaattcca tccgaaaaat 1261 aatttgggag gatatttttc caaagcttaa actctgggaa tttttccaag tagatgtcaa 1321 caaagcggtt gagcaattta gaagacttct tacacaagaa aataggcgag taaccaagtc 1381 tgatccaaac caacacctta cgattattca agatcctgaa tacagacggt ttggctgtac 1441 tgtagatatg aacattgcac taacgacttt cataccacat gacaaggggc cagcagcaat 1501 tgaagaatgc tgtaattggt ttcataaaag aatggaggaa ttaaattcag agaagcatcg 1561 actcattaac tatcatcagg aacaggcagt taattgcctt ttgggaaatg tgttttatga 1621 acgactggct ggccatggtc caaaactagg acctgtcact agaaagcatc ctttagttac 1681 caggtatttt actttcccat ttgaagagat agacttctcc atggaagaat ctatgattca 1741 tctgccaaat aaagcttgtt ttctgatggc acacaatgga tgggtaatgg gagatgatcc 1801 tcttcgaaac tttgctgaac cgggttcaga agtttaccta aggagagaac ttatttgctg 1861 gggagacagt gttaaattac gctatgggaa taaaccagag gactgtcctt atctctgggc 1921 acacatgaaa aaatacactg aaataactgc aacttatttc cagggagtac gtcttgataa 1981 ctgccactca acacctcttc acgtagctga gtacatgttg gatgctgcta ggaatttgca 2041 acccaattta tatgtagtag ctgaactgtt cacaggaagt gaagatctgg acaatgtctt 2101 tgttactaga ctgggcatta gttccttaat aagagaggca atgagtgcat ataatagtca 2161 tgaagagggc agattagttt accgatatgg aggagaacct gttggatcct ttgttcagcc 2221 ctgtttgagg cctttaatgc cagctattgc acatgccctg tttatggata ttacgcatga 2281 taatgagtgt cctattgtgc atagatcagc gtatgatgct cttccaagta ctacaattgt 2341 ttctatggca tgttgtgcta gtggaagtac aagaggctat gatgaattag tgcctcatca 2401 gatttcagtg gtttctgaag aacggtttta cactaagtgg aatcctgaag cattgccttc 2461 aaacacaggt gaagttaatt tccaaagcgg cattattgca gccaggtgtg ctatcagtaa 2521 acttcatcag gagcttggag ccaagggttt tattcaggtg tatgtggatc aagttgatga 2581 agacatagtg gcagtaacaa gacactcacc tagcatccat cagtctgttg tggctgtatc 2641 tagaactgct ttcaggaatc ccaagacttc attttacagc aaggaagtgc ctcaaatgtg 2701 catccctggc aaaattgaag aagtagttct tgaagctaga actattgaga gaaacacgaa 2761 accttatagg aaggatgaga attcaatcaa tggaacacca gatatcacag tagaaattag 2821 agaacatatt cagcttaatg aaagtaaaat tgttaaacaa gctggagttg ccacaaaagg 2881 gcccaatgaa tatattcaag aaatagaatt tgaaaacttg tctccaggaa gtgttattat 2941 attcagagtt agtcttgatc cacatgcaca agtcgctgtt ggaattcttc gaaatcatct 3001 gacacaattc agtcctcact ttaaatctgg cagcctagct gttgacaatg cagatcctat 3061 attaaaaatt ccttttgctt ctcttgcctc cagattaact ttggctgagc taaatcagat 3121 cctttaccga tgtgaatcag aagaaaagga agatggtgga gggtgctatg acataccaaa 3181 ctggtcagcc cttaaatatg caggtcttca aggtttaatg tctgtattgg cagaaataag 3241 accaaagaat gacttggggc atcctttttg taataatttg agatctggag attggatgat 3301 tgactatgtc agtaaccggc ttatttcacg atcaggaact attgctgaag ttggtaaatg 3361 gttgcaggct atgttcttct acctgaagca gatcccacgt taccttatcc catgttactt 3421 tgatgctata ttaattggtg catataccac tcttctggat acagcatgga agcagatgtc 3481 aagctttgtt cagaatggtt caacctttgt gaaacacctt tcattgggtt cagttcaact 3541 gtgtggagta ggaaaattcc cttccctgcc aattctttca cctgccctaa tggatgtacc 3601 ttataggtta aatgagatca caaaagaaaa ggagcaatgt tgtgtttctc tagctgcagg 3661 cttacctcat ttttcttctg gtattttccg ctgctgggga agggatactt ttattgcact 3721 tagaggtata ctgctgatta ctggacgcta tgtagaagcc aggaatatta ttttagcatt 3781 tgcgggtacc ctgaggcatg gtctcattcc taatctactg ggtgaaggga tttatgccag 3841 atacaattgt cgggatgctg tgtggtggtg gctgcagtgt atccaggatt actgtaaaat 3901 ggttccaaat ggtctagaca ttctcaagtg cccagtttcc agaatgtatc ctacagatga 3961 ttctgctcct ttgcctgctg gcacactgga tcagccattg tttgaagtca tacaggaagc 4021 aatgcaaaaa cacatgcagg gcatacagtt ccgagaaagg aatgctggtc cccagataga 4081 tcgaaacatg aaggacgaag gttttaatat aactgcagga gttgatgaag aaacaggatt 4141 tgtttatgga ggaaatcgtt tcaattgtgg cacatggatg gataaaatgg gagaaagtga 4201 cagagctaga aacagaggaa tcccagccac accaagagat gggtctgctg tggaaattgt 4261 gggcctgagt aaatctgctg ttcgctggtt gctggaatta tccaaaaaaa atattttccc 4321 ttatcatgaa gtcacagtaa aaagacatgg aaaggctata aaggtctcat atgatgagtg 4381 gaacagaaaa atacaagaca actttgaaaa gctatttcat gtttccgaag acccttcaga 4441 tttaaatgaa aagcatccaa atctggttca caaacgtggc atatacaaag atagttatgg 4501 agcttcaagt ccttggtgtg actatcagct caggcctaat tttaccatag caatggttgt 4561 ggcccctgag ctctttacta cagaaaaagc agggaaagct ttggagattg cagaaaaaaa 4621 attgcttggt ccccttggca tgaaaacttt agatccagat gatatggttt actgtggaat 4681 ttatgacaat gcattagaca atgacaacta caatcttgct aaaggtttca attatcacca 4741 aggacctgag tggctgtggc ctattgggta ttttcttcgt gcaaaattat atttttccag 4801 attgatgggc ccggagacta ctgcaaagac tatagttttg gttaaaaatg ttctttcccg 4861 acattatgtt catcttgaga gatccccttg gaaaggactt ccagaactga ccaatgagaa 4921 tgcccagtac tgtcctttca gctgtgaaac acaagcctgg tcaattgcta ctattcttga 4981 gacactttat gatttatagt ttattacaga tattaagtat gcaattactg tattatagga 5041 tgcaaggtca tcatatgtaa atgctatatg cacaggctca agttgtttta aaaatctcat 5101 ttattataat attgatgctc aattaggtaa gattgtaaaa gcattgattt tttttaatgt 5161 acagaggtag atttcaattt gaatcagaaa gaaatatcat taccaatgaa atgtgtttga 5221 gttcagtaag aattattcaa atgcctagaa atccatagtt tggaaaataa aaatcatgtc 5281 atcttctatt tgtacagaaa tgaaaataaa atatgaaaat aatgaaagaa atgaaaagat 5341 agcttttaat tgtggtatat ataatcttca gtaacaatac atactgaata cgctgtggtt 5401 cattaatatt aacaccacgt actatagtat tcttagaata cagtgctcac tgcatttaat 5461 aaatatttaa taaatgatga atgatagaag tttccatcta caatatatgt tcctaaatgg 5521 agcacagatg ttcaaactat gctttcattt tttcactgat atattaattt ttgtgtaatg 5581 aatgccaaca gtatatttta tatgatttac ttatgtgagg aaacatgcaa agcattagga 5641 aatttatttc ctaaaaacag ttttgtaaaa ttagtattga gttctattga gtattataag 5701 atagcttaca ttttcaaaat ggaaattgtc ggtcatattt ctagaacttt aaagaaaaaa 5761 gaatgttata ttagttttct aaaactcaac tatctttagt catgttcaaa aatctattgc 5821 tagatcatag tagatactgg ttttctatta actcaaaacc tacattgaca agtttaacat 5881 tgagaagaat cttaacaaaa atatggatat gaattcagta gatatcttaa attcaataaa 5941 atcactggaa gtttttcatg ataacttatt ttaagatgcc ttaaaaatct taaagtcaca 6001 aaaggaaaaa ggtttttaac atttacatga gttaacattt tttcatagaa cttatttcct 6061 agatagaatt ttttactgtt ttttactgtt ttcttaagaa aacagttaaa tcattatgca 6121 ttcagttgga agaaagtagt ggcaagaatt ctttcattgc tatataatat tcagtggctc 6181 atttatacct aataaaataa tggtatttta aaataatgct actttcaaag tagcattttt 6241 ttagttagtt tacaggttac atacccaaaa ccttaactat gactaagaaa ttaaagaaga 6301 aaaccagcaa actaaaactt ctgggcagca aaaatatata aatgcttcag atgtcaaata 6361 cccatgcttg aaagctcgtg taatttactt taagattatc tgcctgctct tcttcaaagc 6421 tgaccttgct ttagaaatag ttttaactag cttagttttc tggtttccaa aactaaaata 6481 gattaaatcc tacaaattta aggacagttg tgacagtaat ctgaccacta tctataaata 6541 cattggacat tggtttccaa atctcccttt ctcttcagtt ccttccttgt tcaatatata 6601 cccttctcta aactgtgcgg gtaaaaggaa tgactgtcct tgagagaacc attagtttat 6661 caaaggttta tgtagttttg ttgctgtacc ctaactttga tattcaggga ggtaggaaag 6721 gtaacagaaa accagcatat ttaatcaaag caagaagtaa tcgctgacag ttaaatgtga 6781 ccaaaaaaat taaaagttca caattttttt aatgtagcca tttggggtta tctctagtaa 6841 ggcagatacc cacgttggta aatttttagg atattgtgtt gcactagaaa actaagtggt 6901 tcatatttct aatgaggaag attaatgaaa gaacattgtt atattctgcg tggtatattt 6961 taaagtttaa gaaggcatgt taaacattat ttcctctatg gtagttaaaa tacagaatta 7021 gatttttaac aggtgtcatt tgactaaacg tttcggtaga atgcttcata cttgagtgat 7081 gctggataag gtattgtatt tcaacaatgg actatgcctt ggtttttcac taatcaaaat 7141 caaaattact ctttaacatg ataaatgaat ttaccagttt agtatgctgt ggtattttaa 7201 taagttttca aagataattg ggaaaacatg agactggtca tattgatgaa tattgtaaca 7261 tgtgaattgt gatccatttc tgatatgtct tgaactactg tgtctagtag gcaaatgtca 7321 ttgttacctc tgtgtgttaa gaaaataaaa atattttcta aaggtcg //