LOCUS HSU84010 7445 bp mRNA linear HUM 04-MAR-1997 DEFINITION Human glycogen debranching enzyme isoform 4 (AGL) mRNA, alternatively spliced isoform, complete cds. ACCESSION U84010 VERSION U84010.1 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 7445) 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 7445) 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..7445 /db_xref="H-InvDB:HIT000221851" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p21" gene 1..7445 /gene="AGL" CDS 479..5077 /gene="AGL" /EC_number="2.4.1.25" /note="alternatively spliced isoform" /codon_start=1 /product="glycogen debranching enzyme isoform 4" /protein_id="AAB48469.1" /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 2374 a 1260 c 1468 g 2343 t ORIGIN 1 ctgtctacgg cagctattcc agaggcaaca actgcttccc tctgttctca tctccccatt 61 ggtggctggc gacccgaatt tgggaatggg gagattgccc acctgttatc tttgagcaga 121 ctaatctctt gtaagcagaa gtgccattcg gagtctccag agccctgtgg cttggggctg 181 ggaatgtccc cctgacttca ggctttccta agtgtattgc ttttctctga gaatggtcta 241 ggtttttaat tttttaattg taagaatctg taatacagca tttttatttc ggtcttattc 301 gttgtgctca aaggcaggaa acaactatta atttgccttc tcgaatctta atagttataa 361 gattcattct ctttcattgc tctgctaggc ataaaacaca cttcgaacat gggtaactca 421 ttcgactgtg gagttctttt aattcttatg aaagatttca aatcctctgg aagccaaaat 481 gggacacagt aaacagattc gaattttact tctgaacgaa atggagaaac tggaaaagac 541 cctcttcaga cttgaacaag ggtatgagct acagttccga ttaggcccaa ctttacaggg 601 aaaagcagtt accgtgtata caaattaccc atttcctgga gaaacattta atagagaaaa 661 attccgttct ctggattggg aaaatccaac agaaagagaa gatgattctg ataaatactg 721 taaacttaat ctgcaacaat ctggttcatt tcagtattat ttccttcaag gaaatgagaa 781 aagtggtgga ggttacatag ttgtggaccc cattttacgt gttggtgctg ataatcatgt 841 gctacccttg gactgtgtta ctcttcagac atttttagct aagtgtttgg gaccttttga 901 tgaatgggaa agcagactta gggttgcaaa agaatcaggc tacaacatga ttcattttac 961 cccattgcag actcttggac tatctaggtc atgctactcc cttgccaatc agttagaatt 1021 aaatcctgac ttttcaagac ctaatagaaa gtatacctgg aatgatgttg gacagctagt 1081 ggaaaaatta aaaaaggaat ggaatgttat ttgtattact gatgttgtct acaatcatac 1141 tgctgctaat agtaaatgga tccaggaaca tccagaatgt gcctataatc ttgtgaattc 1201 tccacactta aaacctgcct gggtcttaga cagagcactt tggcgtttct cctgtgatgt 1261 tgcagaaggg aaatacaaag aaaagggaat acctgctttg attgaaaatg atcaccatat 1321 gaattccatc cgaaaaataa tttgggagga tatttttcca aagcttaaac tctgggaatt 1381 tttccaagta gatgtcaaca aagcggttga gcaatttaga agacttctta cacaagaaaa 1441 taggcgagta accaagtctg atccaaacca acaccttacg attattcaag atcctgaata 1501 cagacggttt ggctgtactg tagatatgaa cattgcacta acgactttca taccacatga 1561 caaggggcca gcagcaattg aagaatgctg taattggttt cataaaagaa tggaggaatt 1621 aaattcagag aagcatcgac tcattaacta tcatcaggaa caggcagtta attgcctttt 1681 gggaaatgtg ttttatgaac gactggctgg ccatggtcca aaactaggac ctgtcactag 1741 aaagcatcct ttagttacca ggtattttac tttcccattt gaagagatag acttctccat 1801 ggaagaatct atgattcatc tgccaaataa agcttgtttt ctgatggcac acaatggatg 1861 ggtaatggga gatgatcctc ttcgaaactt tgctgaaccg ggttcagaag tttacctaag 1921 gagagaactt atttgctggg gagacagtgt taaattacgc tatgggaata aaccagagga 1981 ctgtccttat ctctgggcac acatgaaaaa atacactgaa ataactgcaa cttatttcca 2041 gggagtacgt cttgataact gccactcaac acctcttcac gtagctgagt acatgttgga 2101 tgctgctagg aatttgcaac ccaatttata tgtagtagct gaactgttca caggaagtga 2161 agatctggac aatgtctttg ttactagact gggcattagt tccttaataa gagaggcaat 2221 gagtgcatat aatagtcatg aagagggcag attagtttac cgatatggag gagaacctgt 2281 tggatccttt gttcagccct gtttgaggcc tttaatgcca gctattgcac atgccctgtt 2341 tatggatatt acgcatgata atgagtgtcc tattgtgcat agatcagcgt atgatgctct 2401 tccaagtact acaattgttt ctatggcatg ttgtgctagt ggaagtacaa gaggctatga 2461 tgaattagtg cctcatcaga tttcagtggt ttctgaagaa cggttttaca ctaagtggaa 2521 tcctgaagca ttgccttcaa acacaggtga agttaatttc caaagcggca ttattgcagc 2581 caggtgtgct atcagtaaac ttcatcagga gcttggagcc aagggtttta ttcaggtgta 2641 tgtggatcaa gttgatgaag acatagtggc agtaacaaga cactcaccta gcatccatca 2701 gtctgttgtg gctgtatcta gaactgcttt caggaatccc aagacttcat tttacagcaa 2761 ggaagtgcct caaatgtgca tccctggcaa aattgaagaa gtagttcttg aagctagaac 2821 tattgagaga aacacgaaac cttataggaa ggatgagaat tcaatcaatg gaacaccaga 2881 tatcacagta gaaattagag aacatattca gcttaatgaa agtaaaattg ttaaacaagc 2941 tggagttgcc acaaaagggc ccaatgaata tattcaagaa atagaatttg aaaacttgtc 3001 tccaggaagt gttattatat tcagagttag tcttgatcca catgcacaag tcgctgttgg 3061 aattcttcga aatcatctga cacaattcag tcctcacttt aaatctggca gcctagctgt 3121 tgacaatgca gatcctatat taaaaattcc ttttgcttct cttgcctcca gattaacttt 3181 ggctgagcta aatcagatcc tttaccgatg tgaatcagaa gaaaaggaag atggtggagg 3241 gtgctatgac ataccaaact ggtcagccct taaatatgca ggtcttcaag gtttaatgtc 3301 tgtattggca gaaataagac caaagaatga cttggggcat cctttttgta ataatttgag 3361 atctggagat tggatgattg actatgtcag taaccggctt atttcacgat caggaactat 3421 tgctgaagtt ggtaaatggt tgcaggctat gttcttctac ctgaagcaga tcccacgtta 3481 ccttatccca tgttactttg atgctatatt aattggtgca tataccactc ttctggatac 3541 agcatggaag cagatgtcaa gctttgttca gaatggttca acctttgtga aacacctttc 3601 attgggttca gttcaactgt gtggagtagg aaaattccct tccctgccaa ttctttcacc 3661 tgccctaatg gatgtacctt ataggttaaa tgagatcaca aaagaaaagg agcaatgttg 3721 tgtttctcta gctgcaggct tacctcattt ttcttctggt attttccgct gctggggaag 3781 ggatactttt attgcactta gaggtatact gctgattact ggacgctatg tagaagccag 3841 gaatattatt ttagcatttg cgggtaccct gaggcatggt ctcattccta atctactggg 3901 tgaagggatt tatgccagat acaattgtcg ggatgctgtg tggtggtggc tgcagtgtat 3961 ccaggattac tgtaaaatgg ttccaaatgg tctagacatt ctcaagtgcc cagtttccag 4021 aatgtatcct acagatgatt ctgctccttt gcctgctggc acactggatc agccattgtt 4081 tgaagtcata caggaagcaa tgcaaaaaca catgcagggc atacagttcc gagaaaggaa 4141 tgctggtccc cagatagatc gaaacatgaa ggacgaaggt tttaatataa ctgcaggagt 4201 tgatgaagaa acaggatttg tttatggagg aaatcgtttc aattgtggca catggatgga 4261 taaaatggga gaaagtgaca gagctagaaa cagaggaatc ccagccacac caagagatgg 4321 gtctgctgtg gaaattgtgg gcctgagtaa atctgctgtt cgctggttgc tggaattatc 4381 caaaaaaaat attttccctt atcatgaagt cacagtaaaa agacatggaa aggctataaa 4441 ggtctcatat gatgagtgga acagaaaaat acaagacaac tttgaaaagc tatttcatgt 4501 ttccgaagac ccttcagatt taaatgaaaa gcatccaaat ctggttcaca aacgtggcat 4561 atacaaagat agttatggag cttcaagtcc ttggtgtgac tatcagctca ggcctaattt 4621 taccatagca atggttgtgg cccctgagct ctttactaca gaaaaagcag ggaaagcttt 4681 ggagattgca gaaaaaaaat tgcttggtcc ccttggcatg aaaactttag atccagatga 4741 tatggtttac tgtggaattt atgacaatgc attagacaat gacaactaca atcttgctaa 4801 aggtttcaat tatcaccaag gacctgagtg gctgtggcct attgggtatt ttcttcgtgc 4861 aaaattatat ttttccagat tgatgggccc ggagactact gcaaagacta tagttttggt 4921 taaaaatgtt ctttcccgac attatgttca tcttgagaga tccccttgga aaggacttcc 4981 agaactgacc aatgagaatg cccagtactg tcctttcagc tgtgaaacac aagcctggtc 5041 aattgctact attcttgaga cactttatga tttatagttt attacagata ttaagtatgc 5101 aattactgta ttataggatg caaggtcatc atatgtaaat gctatatgca caggctcaag 5161 ttgttttaaa aatctcattt attataatat tgatgctcaa ttaggtaaga ttgtaaaagc 5221 attgattttt tttaatgtac agaggtagat ttcaatttga atcagaaaga aatatcatta 5281 ccaatgaaat gtgtttgagt tcagtaagaa ttattcaaat gcctagaaat ccatagtttg 5341 gaaaataaaa atcatgtcat cttctatttg tacagaaatg aaaataaaat atgaaaataa 5401 tgaaagaaat gaaaagatag cttttaattg tggtatatat aatcttcagt aacaatacat 5461 actgaatacg ctgtggttca ttaatattaa caccacgtac tatagtattc ttagaataca 5521 gtgctcactg catttaataa atatttaata aatgatgaat gatagaagtt tccatctaca 5581 atatatgttc ctaaatggag cacagatgtt caaactatgc tttcattttt tcactgatat 5641 attaattttt gtgtaatgaa tgccaacagt atattttata tgatttactt atgtgaggaa 5701 acatgcaaag cattaggaaa tttatttcct aaaaacagtt ttgtaaaatt agtattgagt 5761 tctattgagt attataagat agcttacatt ttcaaaatgg aaattgtcgg tcatatttct 5821 agaactttaa agaaaaaaga atgttatatt agttttctaa aactcaacta tctttagtca 5881 tgttcaaaaa tctattgcta gatcatagta gatactggtt ttctattaac tcaaaaccta 5941 cattgacaag tttaacattg agaagaatct taacaaaaat atggatatga attcagtaga 6001 tatcttaaat tcaataaaat cactggaagt ttttcatgat aacttatttt aagatgcctt 6061 aaaaatctta aagtcacaaa aggaaaaagg tttttaacat ttacatgagt taacattttt 6121 tcatagaact tatttcctag atagaatttt ttactgtttt ttactgtttt cttaagaaaa 6181 cagttaaatc attatgcatt cagttggaag aaagtagtgg caagaattct ttcattgcta 6241 tataatattc agtggctcat ttatacctaa taaaataatg gtattttaaa ataatgctac 6301 tttcaaagta gcattttttt agttagttta caggttacat acccaaaacc ttaactatga 6361 ctaagaaatt aaagaagaaa accagcaaac taaaacttct gggcagcaaa aatatataaa 6421 tgcttcagat gtcaaatacc catgcttgaa agctcgtgta atttacttta agattatctg 6481 cctgctcttc ttcaaagctg accttgcttt agaaatagtt ttaactagct tagttttctg 6541 gtttccaaaa ctaaaataga ttaaatccta caaatttaag gacagttgtg acagtaatct 6601 gaccactatc tataaataca ttggacattg gtttccaaat ctccctttct cttcagttcc 6661 ttccttgttc aatatatacc cttctctaaa ctgtgcgggt aaaaggaatg actgtccttg 6721 agagaaccat tagtttatca aaggtttatg tagttttgtt gctgtaccct aactttgata 6781 ttcagggagg taggaaaggt aacagaaaac cagcatattt aatcaaagca agaagtaatc 6841 gctgacagtt aaatgtgacc aaaaaaatta aaagttcaca atttttttaa tgtagccatt 6901 tggggttatc tctagtaagg cagataccca cgttggtaaa tttttaggat attgtgttgc 6961 actagaaaac taagtggttc atatttctaa tgaggaagat taatgaaaga acattgttat 7021 attctgcgtg gtatatttta aagtttaaga aggcatgtta aacattattt cctctatggt 7081 agttaaaata cagaattaga tttttaacag gtgtcatttg actaaacgtt tcggtagaat 7141 gcttcatact tgagtgatgc tggataaggt attgtatttc aacaatggac tatgccttgg 7201 tttttcacta atcaaaatca aaattactct ttaacatgat aaatgaattt accagtttag 7261 tatgctgtgg tattttaata agttttcaaa gataattggg aaaacatgag actggtcata 7321 ttgatgaata ttgtaacatg tgaattgtga tccatttctg atatgtcttg aactactgtg 7381 tctagtaggc aaatgtcatt gttacctctg tgtgttaaga aaataaaaat attttctaaa 7441 ggtcg //