LOCUS HSU84008 7105 bp mRNA linear HUM 04-MAR-1997 DEFINITION Human glycogen debranching enzyme isoform 2 (AGL) mRNA, alternatively spliced isoform, complete cds. ACCESSION U84008 VERSION U84008.1 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 7105) 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 7105) 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..7105 /db_xref="H-InvDB:HIT000221849" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p21" gene 1..7105 /gene="AGL" CDS 139..4737 /gene="AGL" /EC_number="2.4.1.25" /note="alternatively spliced isoform" /codon_start=1 /product="glycogen debranching enzyme isoform 2" /protein_id="AAB48467.1" /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 2290 a 1195 c 1401 g 2219 t ORIGIN 1 ctgtctacgg cagctattcc agaggcaaca actgcttccc tctgttctca tctccccatt 61 ggtggctggc gacccgaatt tgggaatggg gagattgccc acctgttatc tttgagcaga 121 ctaatctctt aagccaaaat gggacacagt aaacagattc gaattttact tctgaacgaa 181 atggagaaac tggaaaagac cctcttcaga cttgaacaag ggtatgagct acagttccga 241 ttaggcccaa ctttacaggg aaaagcagtt accgtgtata caaattaccc atttcctgga 301 gaaacattta atagagaaaa attccgttct ctggattggg aaaatccaac agaaagagaa 361 gatgattctg ataaatactg taaacttaat ctgcaacaat ctggttcatt tcagtattat 421 ttccttcaag gaaatgagaa aagtggtgga ggttacatag ttgtggaccc cattttacgt 481 gttggtgctg ataatcatgt gctacccttg gactgtgtta ctcttcagac atttttagct 541 aagtgtttgg gaccttttga tgaatgggaa agcagactta gggttgcaaa agaatcaggc 601 tacaacatga ttcattttac cccattgcag actcttggac tatctaggtc atgctactcc 661 cttgccaatc agttagaatt aaatcctgac ttttcaagac ctaatagaaa gtatacctgg 721 aatgatgttg gacagctagt ggaaaaatta aaaaaggaat ggaatgttat ttgtattact 781 gatgttgtct acaatcatac tgctgctaat agtaaatgga tccaggaaca tccagaatgt 841 gcctataatc ttgtgaattc tccacactta aaacctgcct gggtcttaga cagagcactt 901 tggcgtttct cctgtgatgt tgcagaaggg aaatacaaag aaaagggaat acctgctttg 961 attgaaaatg atcaccatat gaattccatc cgaaaaataa tttgggagga tatttttcca 1021 aagcttaaac tctgggaatt tttccaagta gatgtcaaca aagcggttga gcaatttaga 1081 agacttctta cacaagaaaa taggcgagta accaagtctg atccaaacca acaccttacg 1141 attattcaag atcctgaata cagacggttt ggctgtactg tagatatgaa cattgcacta 1201 acgactttca taccacatga caaggggcca gcagcaattg aagaatgctg taattggttt 1261 cataaaagaa tggaggaatt aaattcagag aagcatcgac tcattaacta tcatcaggaa 1321 caggcagtta attgcctttt gggaaatgtg ttttatgaac gactggctgg ccatggtcca 1381 aaactaggac ctgtcactag aaagcatcct ttagttacca ggtattttac tttcccattt 1441 gaagagatag acttctccat ggaagaatct atgattcatc tgccaaataa agcttgtttt 1501 ctgatggcac acaatggatg ggtaatggga gatgatcctc ttcgaaactt tgctgaaccg 1561 ggttcagaag tttacctaag gagagaactt atttgctggg gagacagtgt taaattacgc 1621 tatgggaata aaccagagga ctgtccttat ctctgggcac acatgaaaaa atacactgaa 1681 ataactgcaa cttatttcca gggagtacgt cttgataact gccactcaac acctcttcac 1741 gtagctgagt acatgttgga tgctgctagg aatttgcaac ccaatttata tgtagtagct 1801 gaactgttca caggaagtga agatctggac aatgtctttg ttactagact gggcattagt 1861 tccttaataa gagaggcaat gagtgcatat aatagtcatg aagagggcag attagtttac 1921 cgatatggag gagaacctgt tggatccttt gttcagccct gtttgaggcc tttaatgcca 1981 gctattgcac atgccctgtt tatggatatt acgcatgata atgagtgtcc tattgtgcat 2041 agatcagcgt atgatgctct tccaagtact acaattgttt ctatggcatg ttgtgctagt 2101 ggaagtacaa gaggctatga tgaattagtg cctcatcaga tttcagtggt ttctgaagaa 2161 cggttttaca ctaagtggaa tcctgaagca ttgccttcaa acacaggtga agttaatttc 2221 caaagcggca ttattgcagc caggtgtgct atcagtaaac ttcatcagga gcttggagcc 2281 aagggtttta ttcaggtgta tgtggatcaa gttgatgaag acatagtggc agtaacaaga 2341 cactcaccta gcatccatca gtctgttgtg gctgtatcta gaactgcttt caggaatccc 2401 aagacttcat tttacagcaa ggaagtgcct caaatgtgca tccctggcaa aattgaagaa 2461 gtagttcttg aagctagaac tattgagaga aacacgaaac cttataggaa ggatgagaat 2521 tcaatcaatg gaacaccaga tatcacagta gaaattagag aacatattca gcttaatgaa 2581 agtaaaattg ttaaacaagc tggagttgcc acaaaagggc ccaatgaata tattcaagaa 2641 atagaatttg aaaacttgtc tccaggaagt gttattatat tcagagttag tcttgatcca 2701 catgcacaag tcgctgttgg aattcttcga aatcatctga cacaattcag tcctcacttt 2761 aaatctggca gcctagctgt tgacaatgca gatcctatat taaaaattcc ttttgcttct 2821 cttgcctcca gattaacttt ggctgagcta aatcagatcc tttaccgatg tgaatcagaa 2881 gaaaaggaag atggtggagg gtgctatgac ataccaaact ggtcagccct taaatatgca 2941 ggtcttcaag gtttaatgtc tgtattggca gaaataagac caaagaatga cttggggcat 3001 cctttttgta ataatttgag atctggagat tggatgattg actatgtcag taaccggctt 3061 atttcacgat caggaactat tgctgaagtt ggtaaatggt tgcaggctat gttcttctac 3121 ctgaagcaga tcccacgtta ccttatccca tgttactttg atgctatatt aattggtgca 3181 tataccactc ttctggatac agcatggaag cagatgtcaa gctttgttca gaatggttca 3241 acctttgtga aacacctttc attgggttca gttcaactgt gtggagtagg aaaattccct 3301 tccctgccaa ttctttcacc tgccctaatg gatgtacctt ataggttaaa tgagatcaca 3361 aaagaaaagg agcaatgttg tgtttctcta gctgcaggct tacctcattt ttcttctggt 3421 attttccgct gctggggaag ggatactttt attgcactta gaggtatact gctgattact 3481 ggacgctatg tagaagccag gaatattatt ttagcatttg cgggtaccct gaggcatggt 3541 ctcattccta atctactggg tgaagggatt tatgccagat acaattgtcg ggatgctgtg 3601 tggtggtggc tgcagtgtat ccaggattac tgtaaaatgg ttccaaatgg tctagacatt 3661 ctcaagtgcc cagtttccag aatgtatcct acagatgatt ctgctccttt gcctgctggc 3721 acactggatc agccattgtt tgaagtcata caggaagcaa tgcaaaaaca catgcagggc 3781 atacagttcc gagaaaggaa tgctggtccc cagatagatc gaaacatgaa ggacgaaggt 3841 tttaatataa ctgcaggagt tgatgaagaa acaggatttg tttatggagg aaatcgtttc 3901 aattgtggca catggatgga taaaatggga gaaagtgaca gagctagaaa cagaggaatc 3961 ccagccacac caagagatgg gtctgctgtg gaaattgtgg gcctgagtaa atctgctgtt 4021 cgctggttgc tggaattatc caaaaaaaat attttccctt atcatgaagt cacagtaaaa 4081 agacatggaa aggctataaa ggtctcatat gatgagtgga acagaaaaat acaagacaac 4141 tttgaaaagc tatttcatgt ttccgaagac ccttcagatt taaatgaaaa gcatccaaat 4201 ctggttcaca aacgtggcat atacaaagat agttatggag cttcaagtcc ttggtgtgac 4261 tatcagctca ggcctaattt taccatagca atggttgtgg cccctgagct ctttactaca 4321 gaaaaagcag ggaaagcttt ggagattgca gaaaaaaaat tgcttggtcc ccttggcatg 4381 aaaactttag atccagatga tatggtttac tgtggaattt atgacaatgc attagacaat 4441 gacaactaca atcttgctaa aggtttcaat tatcaccaag gacctgagtg gctgtggcct 4501 attgggtatt ttcttcgtgc aaaattatat ttttccagat tgatgggccc ggagactact 4561 gcaaagacta tagttttggt taaaaatgtt ctttcccgac attatgttca tcttgagaga 4621 tccccttgga aaggacttcc agaactgacc aatgagaatg cccagtactg tcctttcagc 4681 tgtgaaacac aagcctggtc aattgctact attcttgaga cactttatga tttatagttt 4741 attacagata ttaagtatgc aattactgta ttataggatg caaggtcatc atatgtaaat 4801 gctatatgca caggctcaag ttgttttaaa aatctcattt attataatat tgatgctcaa 4861 ttaggtaaga ttgtaaaagc attgattttt tttaatgtac agaggtagat ttcaatttga 4921 atcagaaaga aatatcatta ccaatgaaat gtgtttgagt tcagtaagaa ttattcaaat 4981 gcctagaaat ccatagtttg gaaaataaaa atcatgtcat cttctatttg tacagaaatg 5041 aaaataaaat atgaaaataa tgaaagaaat gaaaagatag cttttaattg tggtatatat 5101 aatcttcagt aacaatacat actgaatacg ctgtggttca ttaatattaa caccacgtac 5161 tatagtattc ttagaataca gtgctcactg catttaataa atatttaata aatgatgaat 5221 gatagaagtt tccatctaca atatatgttc ctaaatggag cacagatgtt caaactatgc 5281 tttcattttt tcactgatat attaattttt gtgtaatgaa tgccaacagt atattttata 5341 tgatttactt atgtgaggaa acatgcaaag cattaggaaa tttatttcct aaaaacagtt 5401 ttgtaaaatt agtattgagt tctattgagt attataagat agcttacatt ttcaaaatgg 5461 aaattgtcgg tcatatttct agaactttaa agaaaaaaga atgttatatt agttttctaa 5521 aactcaacta tctttagtca tgttcaaaaa tctattgcta gatcatagta gatactggtt 5581 ttctattaac tcaaaaccta cattgacaag tttaacattg agaagaatct taacaaaaat 5641 atggatatga attcagtaga tatcttaaat tcaataaaat cactggaagt ttttcatgat 5701 aacttatttt aagatgcctt aaaaatctta aagtcacaaa aggaaaaagg tttttaacat 5761 ttacatgagt taacattttt tcatagaact tatttcctag atagaatttt ttactgtttt 5821 ttactgtttt cttaagaaaa cagttaaatc attatgcatt cagttggaag aaagtagtgg 5881 caagaattct ttcattgcta tataatattc agtggctcat ttatacctaa taaaataatg 5941 gtattttaaa ataatgctac tttcaaagta gcattttttt agttagttta caggttacat 6001 acccaaaacc ttaactatga ctaagaaatt aaagaagaaa accagcaaac taaaacttct 6061 gggcagcaaa aatatataaa tgcttcagat gtcaaatacc catgcttgaa agctcgtgta 6121 atttacttta agattatctg cctgctcttc ttcaaagctg accttgcttt agaaatagtt 6181 ttaactagct tagttttctg gtttccaaaa ctaaaataga ttaaatccta caaatttaag 6241 gacagttgtg acagtaatct gaccactatc tataaataca ttggacattg gtttccaaat 6301 ctccctttct cttcagttcc ttccttgttc aatatatacc cttctctaaa ctgtgcgggt 6361 aaaaggaatg actgtccttg agagaaccat tagtttatca aaggtttatg tagttttgtt 6421 gctgtaccct aactttgata ttcagggagg taggaaaggt aacagaaaac cagcatattt 6481 aatcaaagca agaagtaatc gctgacagtt aaatgtgacc aaaaaaatta aaagttcaca 6541 atttttttaa tgtagccatt tggggttatc tctagtaagg cagataccca cgttggtaaa 6601 tttttaggat attgtgttgc actagaaaac taagtggttc atatttctaa tgaggaagat 6661 taatgaaaga acattgttat attctgcgtg gtatatttta aagtttaaga aggcatgtta 6721 aacattattt cctctatggt agttaaaata cagaattaga tttttaacag gtgtcatttg 6781 actaaacgtt tcggtagaat gcttcatact tgagtgatgc tggataaggt attgtatttc 6841 aacaatggac tatgccttgg tttttcacta atcaaaatca aaattactct ttaacatgat 6901 aaatgaattt accagtttag tatgctgtgg tattttaata agttttcaaa gataattggg 6961 aaaacatgag actggtcata ttgatgaata ttgtaacatg tgaattgtga tccatttctg 7021 atatgtcttg aactactgtg tctagtaggc aaatgtcatt gttacctctg tgtgttaaga 7081 aaataaaaat attttctaaa ggtcg //