LOCUS HSU84009 7165 bp mRNA linear HUM 04-MAR-1997 DEFINITION Human glycogen debranching enzyme isoform 3 (AGL) mRNA, alternatively spliced isoform, complete cds. ACCESSION U84009 VERSION U84009.1 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 7165) 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 7165) 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..7165 /db_xref="H-InvDB:HIT000221850" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p21" gene 1..7165 /gene="AGL" CDS 199..4797 /gene="AGL" /EC_number="2.4.1.25" /note="alternatively spliced isoform" /codon_start=1 /product="glycogen debranching enzyme isoform 3" /protein_id="AAB48468.1" /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 2305 a 1205 c 1413 g 2242 t ORIGIN 1 ctgtctacgg cagctattcc agaggcaaca actgcttccc tctgttctca tctccccatt 61 ggtggctggc gacccgaatt tgggaatggg gagattgccc acctgttatc tttgagcaga 121 ctaatctctt gggtaactca ttcgactgtg gagttctttt aattcttatg aaagatttca 181 aatcctctgg aagccaaaat gggacacagt aaacagattc gaattttact tctgaacgaa 241 atggagaaac tggaaaagac cctcttcaga cttgaacaag ggtatgagct acagttccga 301 ttaggcccaa ctttacaggg aaaagcagtt accgtgtata caaattaccc atttcctgga 361 gaaacattta atagagaaaa attccgttct ctggattggg aaaatccaac agaaagagaa 421 gatgattctg ataaatactg taaacttaat ctgcaacaat ctggttcatt tcagtattat 481 ttccttcaag gaaatgagaa aagtggtgga ggttacatag ttgtggaccc cattttacgt 541 gttggtgctg ataatcatgt gctacccttg gactgtgtta ctcttcagac atttttagct 601 aagtgtttgg gaccttttga tgaatgggaa agcagactta gggttgcaaa agaatcaggc 661 tacaacatga ttcattttac cccattgcag actcttggac tatctaggtc atgctactcc 721 cttgccaatc agttagaatt aaatcctgac ttttcaagac ctaatagaaa gtatacctgg 781 aatgatgttg gacagctagt ggaaaaatta aaaaaggaat ggaatgttat ttgtattact 841 gatgttgtct acaatcatac tgctgctaat agtaaatgga tccaggaaca tccagaatgt 901 gcctataatc ttgtgaattc tccacactta aaacctgcct gggtcttaga cagagcactt 961 tggcgtttct cctgtgatgt tgcagaaggg aaatacaaag aaaagggaat acctgctttg 1021 attgaaaatg atcaccatat gaattccatc cgaaaaataa tttgggagga tatttttcca 1081 aagcttaaac tctgggaatt tttccaagta gatgtcaaca aagcggttga gcaatttaga 1141 agacttctta cacaagaaaa taggcgagta accaagtctg atccaaacca acaccttacg 1201 attattcaag atcctgaata cagacggttt ggctgtactg tagatatgaa cattgcacta 1261 acgactttca taccacatga caaggggcca gcagcaattg aagaatgctg taattggttt 1321 cataaaagaa tggaggaatt aaattcagag aagcatcgac tcattaacta tcatcaggaa 1381 caggcagtta attgcctttt gggaaatgtg ttttatgaac gactggctgg ccatggtcca 1441 aaactaggac ctgtcactag aaagcatcct ttagttacca ggtattttac tttcccattt 1501 gaagagatag acttctccat ggaagaatct atgattcatc tgccaaataa agcttgtttt 1561 ctgatggcac acaatggatg ggtaatggga gatgatcctc ttcgaaactt tgctgaaccg 1621 ggttcagaag tttacctaag gagagaactt atttgctggg gagacagtgt taaattacgc 1681 tatgggaata aaccagagga ctgtccttat ctctgggcac acatgaaaaa atacactgaa 1741 ataactgcaa cttatttcca gggagtacgt cttgataact gccactcaac acctcttcac 1801 gtagctgagt acatgttgga tgctgctagg aatttgcaac ccaatttata tgtagtagct 1861 gaactgttca caggaagtga agatctggac aatgtctttg ttactagact gggcattagt 1921 tccttaataa gagaggcaat gagtgcatat aatagtcatg aagagggcag attagtttac 1981 cgatatggag gagaacctgt tggatccttt gttcagccct gtttgaggcc tttaatgcca 2041 gctattgcac atgccctgtt tatggatatt acgcatgata atgagtgtcc tattgtgcat 2101 agatcagcgt atgatgctct tccaagtact acaattgttt ctatggcatg ttgtgctagt 2161 ggaagtacaa gaggctatga tgaattagtg cctcatcaga tttcagtggt ttctgaagaa 2221 cggttttaca ctaagtggaa tcctgaagca ttgccttcaa acacaggtga agttaatttc 2281 caaagcggca ttattgcagc caggtgtgct atcagtaaac ttcatcagga gcttggagcc 2341 aagggtttta ttcaggtgta tgtggatcaa gttgatgaag acatagtggc agtaacaaga 2401 cactcaccta gcatccatca gtctgttgtg gctgtatcta gaactgcttt caggaatccc 2461 aagacttcat tttacagcaa ggaagtgcct caaatgtgca tccctggcaa aattgaagaa 2521 gtagttcttg aagctagaac tattgagaga aacacgaaac cttataggaa ggatgagaat 2581 tcaatcaatg gaacaccaga tatcacagta gaaattagag aacatattca gcttaatgaa 2641 agtaaaattg ttaaacaagc tggagttgcc acaaaagggc ccaatgaata tattcaagaa 2701 atagaatttg aaaacttgtc tccaggaagt gttattatat tcagagttag tcttgatcca 2761 catgcacaag tcgctgttgg aattcttcga aatcatctga cacaattcag tcctcacttt 2821 aaatctggca gcctagctgt tgacaatgca gatcctatat taaaaattcc ttttgcttct 2881 cttgcctcca gattaacttt ggctgagcta aatcagatcc tttaccgatg tgaatcagaa 2941 gaaaaggaag atggtggagg gtgctatgac ataccaaact ggtcagccct taaatatgca 3001 ggtcttcaag gtttaatgtc tgtattggca gaaataagac caaagaatga cttggggcat 3061 cctttttgta ataatttgag atctggagat tggatgattg actatgtcag taaccggctt 3121 atttcacgat caggaactat tgctgaagtt ggtaaatggt tgcaggctat gttcttctac 3181 ctgaagcaga tcccacgtta ccttatccca tgttactttg atgctatatt aattggtgca 3241 tataccactc ttctggatac agcatggaag cagatgtcaa gctttgttca gaatggttca 3301 acctttgtga aacacctttc attgggttca gttcaactgt gtggagtagg aaaattccct 3361 tccctgccaa ttctttcacc tgccctaatg gatgtacctt ataggttaaa tgagatcaca 3421 aaagaaaagg agcaatgttg tgtttctcta gctgcaggct tacctcattt ttcttctggt 3481 attttccgct gctggggaag ggatactttt attgcactta gaggtatact gctgattact 3541 ggacgctatg tagaagccag gaatattatt ttagcatttg cgggtaccct gaggcatggt 3601 ctcattccta atctactggg tgaagggatt tatgccagat acaattgtcg ggatgctgtg 3661 tggtggtggc tgcagtgtat ccaggattac tgtaaaatgg ttccaaatgg tctagacatt 3721 ctcaagtgcc cagtttccag aatgtatcct acagatgatt ctgctccttt gcctgctggc 3781 acactggatc agccattgtt tgaagtcata caggaagcaa tgcaaaaaca catgcagggc 3841 atacagttcc gagaaaggaa tgctggtccc cagatagatc gaaacatgaa ggacgaaggt 3901 tttaatataa ctgcaggagt tgatgaagaa acaggatttg tttatggagg aaatcgtttc 3961 aattgtggca catggatgga taaaatggga gaaagtgaca gagctagaaa cagaggaatc 4021 ccagccacac caagagatgg gtctgctgtg gaaattgtgg gcctgagtaa atctgctgtt 4081 cgctggttgc tggaattatc caaaaaaaat attttccctt atcatgaagt cacagtaaaa 4141 agacatggaa aggctataaa ggtctcatat gatgagtgga acagaaaaat acaagacaac 4201 tttgaaaagc tatttcatgt ttccgaagac ccttcagatt taaatgaaaa gcatccaaat 4261 ctggttcaca aacgtggcat atacaaagat agttatggag cttcaagtcc ttggtgtgac 4321 tatcagctca ggcctaattt taccatagca atggttgtgg cccctgagct ctttactaca 4381 gaaaaagcag ggaaagcttt ggagattgca gaaaaaaaat tgcttggtcc ccttggcatg 4441 aaaactttag atccagatga tatggtttac tgtggaattt atgacaatgc attagacaat 4501 gacaactaca atcttgctaa aggtttcaat tatcaccaag gacctgagtg gctgtggcct 4561 attgggtatt ttcttcgtgc aaaattatat ttttccagat tgatgggccc ggagactact 4621 gcaaagacta tagttttggt taaaaatgtt ctttcccgac attatgttca tcttgagaga 4681 tccccttgga aaggacttcc agaactgacc aatgagaatg cccagtactg tcctttcagc 4741 tgtgaaacac aagcctggtc aattgctact attcttgaga cactttatga tttatagttt 4801 attacagata ttaagtatgc aattactgta ttataggatg caaggtcatc atatgtaaat 4861 gctatatgca caggctcaag ttgttttaaa aatctcattt attataatat tgatgctcaa 4921 ttaggtaaga ttgtaaaagc attgattttt tttaatgtac agaggtagat ttcaatttga 4981 atcagaaaga aatatcatta ccaatgaaat gtgtttgagt tcagtaagaa ttattcaaat 5041 gcctagaaat ccatagtttg gaaaataaaa atcatgtcat cttctatttg tacagaaatg 5101 aaaataaaat atgaaaataa tgaaagaaat gaaaagatag cttttaattg tggtatatat 5161 aatcttcagt aacaatacat actgaatacg ctgtggttca ttaatattaa caccacgtac 5221 tatagtattc ttagaataca gtgctcactg catttaataa atatttaata aatgatgaat 5281 gatagaagtt tccatctaca atatatgttc ctaaatggag cacagatgtt caaactatgc 5341 tttcattttt tcactgatat attaattttt gtgtaatgaa tgccaacagt atattttata 5401 tgatttactt atgtgaggaa acatgcaaag cattaggaaa tttatttcct aaaaacagtt 5461 ttgtaaaatt agtattgagt tctattgagt attataagat agcttacatt ttcaaaatgg 5521 aaattgtcgg tcatatttct agaactttaa agaaaaaaga atgttatatt agttttctaa 5581 aactcaacta tctttagtca tgttcaaaaa tctattgcta gatcatagta gatactggtt 5641 ttctattaac tcaaaaccta cattgacaag tttaacattg agaagaatct taacaaaaat 5701 atggatatga attcagtaga tatcttaaat tcaataaaat cactggaagt ttttcatgat 5761 aacttatttt aagatgcctt aaaaatctta aagtcacaaa aggaaaaagg tttttaacat 5821 ttacatgagt taacattttt tcatagaact tatttcctag atagaatttt ttactgtttt 5881 ttactgtttt cttaagaaaa cagttaaatc attatgcatt cagttggaag aaagtagtgg 5941 caagaattct ttcattgcta tataatattc agtggctcat ttatacctaa taaaataatg 6001 gtattttaaa ataatgctac tttcaaagta gcattttttt agttagttta caggttacat 6061 acccaaaacc ttaactatga ctaagaaatt aaagaagaaa accagcaaac taaaacttct 6121 gggcagcaaa aatatataaa tgcttcagat gtcaaatacc catgcttgaa agctcgtgta 6181 atttacttta agattatctg cctgctcttc ttcaaagctg accttgcttt agaaatagtt 6241 ttaactagct tagttttctg gtttccaaaa ctaaaataga ttaaatccta caaatttaag 6301 gacagttgtg acagtaatct gaccactatc tataaataca ttggacattg gtttccaaat 6361 ctccctttct cttcagttcc ttccttgttc aatatatacc cttctctaaa ctgtgcgggt 6421 aaaaggaatg actgtccttg agagaaccat tagtttatca aaggtttatg tagttttgtt 6481 gctgtaccct aactttgata ttcagggagg taggaaaggt aacagaaaac cagcatattt 6541 aatcaaagca agaagtaatc gctgacagtt aaatgtgacc aaaaaaatta aaagttcaca 6601 atttttttaa tgtagccatt tggggttatc tctagtaagg cagataccca cgttggtaaa 6661 tttttaggat attgtgttgc actagaaaac taagtggttc atatttctaa tgaggaagat 6721 taatgaaaga acattgttat attctgcgtg gtatatttta aagtttaaga aggcatgtta 6781 aacattattt cctctatggt agttaaaata cagaattaga tttttaacag gtgtcatttg 6841 actaaacgtt tcggtagaat gcttcatact tgagtgatgc tggataaggt attgtatttc 6901 aacaatggac tatgccttgg tttttcacta atcaaaatca aaattactct ttaacatgat 6961 aaatgaattt accagtttag tatgctgtgg tattttaata agttttcaaa gataattggg 7021 aaaacatgag actggtcata ttgatgaata ttgtaacatg tgaattgtga tccatttctg 7081 atatgtcttg aactactgtg tctagtaggc aaatgtcatt gttacctctg tgtgttaaga 7141 aaataaaaat attttctaaa ggtcg //