• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu16218 Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA. pcDNA3.1+-DYK On-demand $2699.00 30
OHu16218C Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA. Customized vector On-demand $2699.00 30

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000028.2, 116734846
Length 4599 bp
Structure linear
Update Date 19-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 4, mRNA.
Product glycogen debranching enzyme isoform 1
Comment

Summary: This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2, 3 and 4 encode the same isoform (isoform 1).

RefSeq NP_000019.2
CDS 479..5077
Misc Feature(1)449..451
Misc Feature(2)542..5074
Misc Feature(3)542..5074
Misc Feature(4)566..829
Misc Feature(5)791..2227
Misc Feature(6)2228..2230
Misc Feature(7)2567..3400
Misc Feature(8)3695..5059
Exon (1)1..410
Gene:AGL
Gene Synonym:GDE
Exon (2)411..560
Gene:AGL
Gene Synonym:GDE
Exon (3)561..771
Gene:AGL
Gene Synonym:GDE
Exon (4)772..938
Gene:AGL
Gene Synonym:GDE
Exon (5)939..1142
Gene:AGL
Gene Synonym:GDE
Exon (6)1143..1324
Gene:AGL
Gene Synonym:GDE
Exon (7)1325..1436
Gene:AGL
Gene Synonym:GDE
Exon (8)1437..1560
Gene:AGL
Gene Synonym:GDE
Exon (9)1561..1663
Gene:AGL
Gene Synonym:GDE
Exon (10)1664..1761
Gene:AGL
Gene Synonym:GDE
Exon (11)1762..1901
Gene:AGL
Gene Synonym:GDE
Exon (12)1902..2089
Gene:AGL
Gene Synonym:GDE
Exon (13)2090..2213
Gene:AGL
Gene Synonym:GDE
Exon (14)2214..2377
Gene:AGL
Gene Synonym:GDE
Exon (15)2378..2479
Gene:AGL
Gene Synonym:GDE
Exon (16)2480..2635
Gene:AGL
Gene Synonym:GDE
Exon (17)2636..2786
Gene:AGL
Gene Synonym:GDE
Exon (18)2787..2911
Gene:AGL
Gene Synonym:GDE
Exon (19)2912..3024
Gene:AGL
Gene Synonym:GDE
Exon (20)3025..3159
Gene:AGL
Gene Synonym:GDE
Exon (21)3160..3290
Gene:AGL
Gene Synonym:GDE
Exon (22)3291..3427
Gene:AGL
Gene Synonym:GDE
Exon (23)3428..3561
Gene:AGL
Gene Synonym:GDE
Exon (24)3562..3737
Gene:AGL
Gene Synonym:GDE
Exon (25)3738..3840
Gene:AGL
Gene Synonym:GDE
Exon (26)3841..4066
Gene:AGL
Gene Synonym:GDE
Exon (27)4067..4178
Gene:AGL
Gene Synonym:GDE
Exon (28)4179..4314
Gene:AGL
Gene Synonym:GDE
Exon (29)4315..4427
Gene:AGL
Gene Synonym:GDE
Exon (30)4428..4639
Gene:AGL
Gene Synonym:GDE
Exon (31)4640..4737
Gene:AGL
Gene Synonym:GDE
Exon (32)4738..4825
Gene:AGL
Gene Synonym:GDE
Exon (33)4826..4959
Gene:AGL
Gene Synonym:GDE
Exon (34)4960..7449
Gene:AGL
Gene Synonym:GDE
Translation MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNRE KFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNH VLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLE LNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVN SPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPH DKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVT RKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYL RRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYML DAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGY DELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQV YVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEAR TIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENL SPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNL RSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLD TAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQC CVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLL GEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWM DKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAI KVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPN FTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLA KGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL PELTNENAQYCPFSCETQAWSIATILETLYDL
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Position Chain Variation Link
108+dbSNP:
108+a, gdbSNP:371657154
268+a, cdbSNP:377176234
292+a, gdbSNP:374515839
368..369+, tcdbSNP:142331734
433+dbSNP:
433+a, gdbSNP:199701996
454+g, tdbSNP:373822240
complement(469)-t, cdbSNP:2307130
494+c, tdbSNP:113994126
495..496+, agdbSNP:113994127
517+c, tdbSNP:138203039
556+a, gdbSNP:143110759
581+c, tdbSNP:370307706
586+c, tdbSNP:374064723
590+c, tdbSNP:35278779
590+c, tdbSNP:386438860
598+a, gdbSNP:371655853
629+c, tdbSNP:367591347
664+c, tdbSNP:146234738
666+a, gdbSNP:199958942
685+c, tdbSNP:2230305
702+a, gdbSNP:142368729
719+c, tdbSNP:201584227
722+a, gdbSNP:147900599
734+c, tdbSNP:193186112
739+a, gdbSNP:370304606
789+dbSNP:
789+g, tdbSNP:371973678
795+a, tdbSNP:201888023
796+c, tdbSNP:376885398
803+g, tdbSNP:369068676
812+a, gdbSNP:147024351
819+a, gdbSNP:150146360
845+c, gdbSNP:372709840
846+c, tdbSNP:138607658
884+c, tdbSNP:376697123
939+dbSNP:
939+a, gdbSNP:199622995
945+a, gdbSNP:369767463
1087+a, gdbSNP:186709388
1100+c, tdbSNP:202084554
1153+dbSNP:
1153+c, tdbSNP:145391010
1158+g, tdbSNP:145929061
1164+a, gdbSNP:17121403
1164+c, tdbSNP:386542526
1214+c, tdbSNP:370391954
1232+a, gdbSNP:373804474
1245+a, gdbSNP:200180652
1279+a, gdbSNP:370970364
1281+a, gdbSNP:376231430
1319+a, gdbSNP:185838959
1332+dbSNP:
1332+a, gdbSNP:144817648
1372+c, tdbSNP:2230306
1385+c, tdbSNP:145362161
1405+a, gdbSNP:181804327
1444..1445+dbSNP:
1444..1445+, gdbSNP:35856689
1444+a, gdbSNP:199905460
1446+a, gdbSNP:139399527
1479+c, tdbSNP:140348042
1480+a, gdbSNP:369218410
1506+a, gdbSNP:137943515
1511+a, gdbSNP:372121829
1528+a, gdbSNP:140872573
1572+dbSNP:
1572+c, tdbSNP:369462523
1579+c, tdbSNP:111275380
1597+g, tdbSNP:182159073
1633+g, tdbSNP:28730701
1638+a, gdbSNP:17121464
1643+a, tdbSNP:140002583
1696+dbSNP:
1696+c, tdbSNP:200607707
1700+c, tdbSNP:113994128
1704+g, tdbSNP:200459772
1739+a, gdbSNP:150637770
1797+dbSNP:
1797+c, tdbSNP:149771710
1798..1799+, cdbSNP:34944425
1798+c, tdbSNP:267597890
1811+a, gdbSNP:140375476
1864+a, cdbSNP:201533331
1899+c, tdbSNP:146493448
1900+a, gdbSNP:144714696
1907+dbSNP:
1907+c, gdbSNP:371406517
1915+a, cdbSNP:140095668
1933+c, tdbSNP:375412979
1936+c, tdbSNP:143287982
1958+c, tdbSNP:199660743
1959+a, gdbSNP:141043166
1981+c, tdbSNP:187788246
2015+a, tdbSNP:143987049
2121+dbSNP:
2121+c, gdbSNP:372776426
2122+c, tdbSNP:142279543
2172+a, gdbSNP:180768312
2175+a, tdbSNP:368749710
2237+dbSNP:
2237+c, tdbSNP:139488862
2245+c, gdbSNP:146514283
2287+c, gdbSNP:111918608
2288+g, tdbSNP:138105395
2324+a, gdbSNP:371115206
2336+c, gdbSNP:200933503
2342+a, cdbSNP:145517369
2352+c, tdbSNP:147569805
2353+c, g, tdbSNP:141944878
2363+a, gdbSNP:146041189
2373+a, tdbSNP:138823746
2379+dbSNP:
2379+a, tdbSNP:199872681
2386+a, gdbSNP:144723143
2387+a, gdbSNP:372501843
2414+a, gdbSNP:376666809
2451+c, gdbSNP:202072987
2457+a, cdbSNP:188519129
2477+, cdbSNP:387906246
2482+dbSNP:
2482+c, tdbSNP:186966939
2517+a, gdbSNP:113994129
2566+c, tdbSNP:144491501
2579+g, tdbSNP:3736297
2641+dbSNP:
2641+c, tdbSNP:368162843
2726+g, tdbSNP:139950099
2758+c, tdbSNP:373513564
2778+a, gdbSNP:142175455
2786+c, gdbSNP:149914040
2835+dbSNP:
2835+c, tdbSNP:147586981
2844+a, cdbSNP:145720433
2868+a, gdbSNP:149210307
2885+a, gdbSNP:148359033
2964+dbSNP:
2964+a, gdbSNP:199554089
3000+c, tdbSNP:150441555
3023+a, gdbSNP:368435664
3036+dbSNP:
3036+a, gdbSNP:374531404
3049+a, gdbSNP:373619867
3068+c, tdbSNP:113994130
3075+a, tdbSNP:367713487
3110+a, cdbSNP:146049603
3135+c, tdbSNP:149331873
3148+g, tdbSNP:188568866
3158+c, tdbSNP:200856850
3161+dbSNP:
3161+c, gdbSNP:116729982
3207+a, gdbSNP:369044372
3239+a, gdbSNP:199868334
3268+c, tdbSNP:371426099
complement(3280)-t, gdbSNP:34230588
3292+dbSNP:
3292+g, tdbSNP:147590282
3314+a, gdbSNP:374861679
3334+g, tdbSNP:200023888
3361+a, gdbSNP:113625417
3363+c, gdbSNP:34714252
3375+c, tdbSNP:377540254
3395+c, tdbSNP:370787356
3408+a, gdbSNP:147977213
3419+a, gdbSNP:148981763
3420+c, tdbSNP:138333678
3504+dbSNP:
3504+c, tdbSNP:200129247
3520+a, gdbSNP:372872214
3628+dbSNP:
3628+a, gdbSNP:202095430
3677+c, tdbSNP:3753494
3677+c, tdbSNP:386585495
3681+a, gdbSNP:147165298
3709+a, gdbSNP:138063386
3712+g, tdbSNP:147184258
3720+a, gdbSNP:147375385
3768+dbSNP:
3768+a, gdbSNP:185947256
3820+c, tdbSNP:369509822
3821+a, gdbSNP:2230307
3821+a, gdbSNP:386611124
3862+dbSNP:
3862+a, gdbSNP:149393587
3878+a, gdbSNP:146615251
3890+a, gdbSNP:376159841
3909+a, c, tdbSNP:2230308
3917+a, gdbSNP:267606639
3929+c, tdbSNP:370797337
3930+a, gdbSNP:376059155
3932+a, gdbSNP:201198237
3964+c, gdbSNP:200246710
3970+c, tdbSNP:370202718
4021+a, gdbSNP:199655785
4028+a, cdbSNP:144788314
4029+c, tdbSNP:374498927
4043+c, gdbSNP:367721028
4059+a, gdbSNP:370685884
4062+c, gdbSNP:148930543
4097+dbSNP:
4097+a, gdbSNP:11807956
4146+a, gdbSNP:202046937
4160+c, tdbSNP:113994131
4161+a, gdbSNP:147214287
4174+c, tdbSNP:143076729
4175+a, gdbSNP:375254875
4235+dbSNP:
4235+c, tdbSNP:375531470
4236+a, gdbSNP:12043139
4242+a, gdbSNP:138134718
4252+a, gdbSNP:369393783
4270+a, tdbSNP:148606237
4300+c, tdbSNP:143885684
4327+dbSNP:
4327+c, tdbSNP:28730706
4362+a, gdbSNP:140481863
4395+c, tdbSNP:41285738
4402+c, tdbSNP:142335994
4443+dbSNP:
4443+, tdbSNP:113994132
4446+c, tdbSNP:375493401
4458+a, gdbSNP:267606640
4505+a, gdbSNP:112795811
4530+a, gdbSNP:41285740
4553+c, tdbSNP:146257941
4554+a, gdbSNP:201533636
4555+c, tdbSNP:199641038
4566+a, gdbSNP:145092704
4642+dbSNP:
4642+c, gdbSNP:142809832
4650+c, tdbSNP:375415872
4662+a, gdbSNP:371446246
4667+a, gdbSNP:375755924
4670+g, tdbSNP:1042090
4692+a, gdbSNP:28730708
4741+dbSNP:
4741+c, tdbSNP:200603266
4761+a, cdbSNP:150532164
4778+a, gdbSNP:146154694
4784+a, cdbSNP:372262923
4808+a, gdbSNP:375100886
4809+a, gdbSNP:143815159
4813+a, tdbSNP:369635040
4819+a, gdbSNP:376486225
4820+c, gdbSNP:118203964
4822+a, cdbSNP:373302638
4838+dbSNP:
4838+c, gdbSNP:374646933
4867+a, gdbSNP:148555004
4886+a, gdbSNP:377284498
4908+c, gdbSNP:78348923
4928+a, gdbSNP:75076115
4933+, tdbSNP:113994134
4934+, tdbSNP:387906245
4937+c, g, tdbSNP:12118058
4938+a, gdbSNP:185681971
4940+c, tdbSNP:374651629
5005+dbSNP:
5005+a, gdbSNP:373624039
5007..5008+, adbSNP:387906244
5020+c, gdbSNP:367764339
5053+a, tdbSNP:372116308
5059+g, tdbSNP:375951957
5062+a, cdbSNP:138053345
5243+a, cdbSNP:111977206
5258+a, gdbSNP:143709017
5309+a, gdbSNP:370200115
5317+c, tdbSNP:185574666
5349+g, tdbSNP:1804808
5439+c, tdbSNP:368336411
5536+g, tdbSNP:148124137
5562+c, gdbSNP:377387117
5652+g, tdbSNP:60880558
5681+a, gdbSNP:189939228
5809+c, tdbSNP:3766600
5816+a, gdbSNP:41285742
5909+a, gdbSNP:181486858
6031+, tdbSNP:371392919
6037..6039+, atgdbSNP:201705489
6105+c, tdbSNP:3766601
6115+c, gdbSNP:187015320
6180+a, gdbSNP:138743315
6301+c, tdbSNP:12563807
6309+g, tdbSNP:191942632
6321+a, tdbSNP:72963791
6339+c, tdbSNP:370313322
6355+a, gdbSNP:371787948
6373+a, cdbSNP:1804809
6511+c, tdbSNP:141864701
6618+c, tdbSNP:3766603
6630+g, tdbSNP:146282184
6658+c, gdbSNP:76338815
6687+c, tdbSNP:184983509
6692+a, cdbSNP:374231231
6796..6797+, gdbSNP:34187957
6797+a, cdbSNP:111689090
6816+c, gdbSNP:189840685
7013+a, gdbSNP:182249213
7030+a, gdbSNP:186896891
7048+c, tdbSNP:139068984
7129+c, tdbSNP:372962335
7135+a, gdbSNP:12117747
7137+c, tdbSNP:191429370
7389+a, gdbSNP:1042285
7438+c, tdbSNP:1042291
Gene SymbolAGL
Gene SynonymGDE
Chromosome1
Locus Map1p21
Title Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III .
Author Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N and Abdelhak S.
Journal Mol. Biol. Rep. 40 (7), 4197-4202 (2013)
Title White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder .
Author Sprooten E, Fleming KM, Thomson PA, Bastin ME, Whalley HC, Hall J, Sussmann JE, McKirdy J, Blackwood D, Lawrie SM and McIntosh AM.
Journal Psychiatry Res 206 (2-3), 223-231 (2013)
Title Anti-retinal antibodies in patients with macular telangiectasia type 2 .
Author Zhu L, Shen W, Zhu M, Coorey NJ, Nguyen AP, Barthelmes D and Gillies MC.
Journal Invest. Ophthalmol. Vis. Sci. 54 (8), 5675-5683 (2013)
Title A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect .
Author Mili A, Ben Charfeddine I, Amara A, Mamai O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K and Gribaa M.
Journal Clin. Genet. 82 (6), 534-539 (2012)
Title Genome-wide association study of lung function decline in adults with and without asthma .
Author Imboden M, Bouzigon E, Curjuric I, Ramasamy A, Kumar A, Hancock DB, Wilk JB, Vonk JM, Thun GA, Siroux V, Nadif R, Monier F, Gonzalez JR, Wjst M, Heinrich J, Loehr LR, Franceschini N, North KE, Altmuller J, Koppelman GH, Guerra S, Kronenberg F, Lathrop M, Moffatt MF, O'Connor GT, Strachan DP, Postma DS, London SJ, Schindler C, Kogevinas M, Kauffmann F, Jarvis DL, Demenais F and Probst-Hensch NM.
Journal J. Allergy Clin. Immunol. 129 (5), 1218-1228 (2012)
Title Glycogen Storage Disease Type III .
Author Dagli,A., Sentner,C.P. and Weinstein,D.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Assignment of the human glycogen debrancher gene to chromosome 1p21 .
Author Yang-Feng TL, Zheng K, Yu J, Yang BZ, Chen YT and Kao FT.
Journal Genomics 13 (4), 931-934 (1992)
Title Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme .
Author Yang BZ, Ding JH, Enghild JJ, Bao Y and Chen YT.
Journal J. Biol. Chem. 267 (13), 9294-9299 (1992)
Title Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III .
Author Ding JH, de Barsy T, Brown BI, Coleman RA and Chen YT.
Journal J. Pediatr. 116 (1), 95-100 (1990)
Title Electronystagmographic findings in cerebellar dysfunction .
Author Katsarkas,A. and Younge,B.R.
Journal J Otolaryngol 5 (2), 143-153 (1976)

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