Reviewed, UniProtKB/Swiss-Prot P35573 (GDE_HUMAN)

Names and origin

Protein names

Recommended name:
    Glycogen debranching enzyme
Alternative name(s):
    Glycogen debrancher
Including the following 2 domains:
    1- Recommended name:
            4-alpha-glucanotransferase
              EC=2.4.1.25
        Alternative name(s):
            Oligo-1,4-1,4-glucantransferase
    2- Recommended name:
            Amylo-alpha-1,6-glucosidase
                Short name=Amylo-1,6-glucosidase
              EC=3.2.1.33
        Alternative name(s):
            Dextrin 6-alpha-D-glucosidase

Gene names

Name:	AGL
Synonyms:	GDE

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1532 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
Catalytic activity	Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan. Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.
Subunit structure	Monomer.
Tissue specificity	Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
Post-translational modification	The N-terminus is blocked.
Involvement in disease	Defects in AGL are the cause of glycogen storage disease type 3 (GSD3) [MIM:232400]; also known as Forbes disease. GSD3 is a metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. Three GSD3 types are recognized: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. GSD3 is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Ref.11
Sequence similarities	Belongs to the glycogen debranching enzyme family.

Ontologies

Keywords
Biological process	Glycogen biosynthesis
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Glycogen storage disease
Molecular function	Glycosidase Glycosyltransferase Hydrolase Transferase
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Multifunctional enzyme
Gene Ontology (GO)
Biological process	glycogen biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytosol Inferred from Experiment. Source: Reactome isoamylase complex Ref.1 Traceable author statement. Source: ProtInc
Molecular function	4-alpha-glucanotransferase activity Inferred from electronic annotation. Source: EC amylo-alpha-1,6-glucosidase activity Inferred from Experiment. Source: Reactome cation binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P35573-1) Also known as: 2; 3; 4; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: The products of the mRNAs termed isoforms 1 to 4 are identical.
Isoform 5 (identifier: P35573-2) The sequence of this isoform differs from the canonical sequence as follows:      1-27: MGHSKQIRILLLNEMEKLEKTLFRLEQ → MSLLTCAFYL
Isoform 6 (identifier: P35573-3) The sequence of this isoform differs from the canonical sequence as follows:      1-27: MGHSKQIRILLLNEMEKLEKTLFRLEQ → MAPILSINLFI
Sequence annotation (Features)
	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
	Sequence conflict	4	1	I → L in AAB48470. Ref.3

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1532	1532	Glycogen debranching enzyme		PRO_0000087450
Regions
	Region	1 – ?		4-alpha-glucanotransferase
	Region	? – 1532		Amylo-1,6-glucosidase
Sites
	Active site	526	1	By similarity
	Active site	529	1	By similarity
	Active site	627	1	By similarity
Amino acid modifications
	Modified residue	584	1	Phosphotyrosine Ref.9
Natural variations
	Alternative sequence	1 – 27	27	MGHSK…FRLEQ → MSLLTCAFYL in isoform 5.		VSP_004270
	Alternative sequence	1 – 27	27	MGHSK…FRLEQ → MAPILSINLFI in isoform 6.		VSP_004271
	Natural variant	38	1	T → A: dbSNP rs35278779.		VAR_032084
	Natural variant	229	1	Q → R: dbSNP rs17121403.		VAR_028051
	Natural variant	387	1	R → Q: dbSNP rs17121464.		VAR_009621
	Natural variant	701	1	A → S: dbSNP rs3736297.		VAR_028052
	Natural variant	962	1	S → C: dbSNP rs34714252.		VAR_032085
	Natural variant	1067	1	P → S: dbSNP rs3753494.		VAR_020389
	Natural variant	1115	1	G → R: dbSNP rs2230307. Ref.11		VAR_009230
	Natural variant	1144	1	I → N: dbSNP rs2230308.		VAR_028053
	Natural variant	1207	1	A → T: dbSNP rs11807956.		VAR_051010
	Natural variant	1253	1	R → H: dbSNP rs12043139.		VAR_028054
	Natural variant	1343	1	E → K		VAR_009622
	Natural variant	1448	1	G → R in GSD3. Ref.11		VAR_009231
	Natural variant	1487	1	R → G: dbSNP rs12118058.		VAR_028055
Experimental info
	Sequence conflict	1398	1	W → G in AAB41040. Ref.1
	Sequence conflict	1398	1	W → G Ref.2
	Sequence conflict	1398	1	W → G Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (2) (3) (4) [UniParc]. Last modified October 17, 2006. Version 3. Checksum: 9BF1BCC43B7904D3	FASTA	1,532	174,764
	10 20 30 40 50 60 MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE 70 80 90 100 110 120 KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH 130 140 150 160 170 180 VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE 190 200 210 220 230 240 LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN 250 260 270 280 290 300 SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE 310 320 330 340 350 360 FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH 370 380 390 400 410 420 DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT 430 440 450 460 470 480 RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL 490 500 510 520 530 540 RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML 550 560 570 580 590 600 DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP 610 620 630 640 650 660 VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY 670 680 690 700 710 720 DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV 730 740 750 760 770 780 YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR 790 800 810 820 830 840 TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL 850 860 870 880 890 900 SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT 910 920 930 940 950 960 LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL 970 980 990 1000 1010 1020 RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD 1030 1040 1050 1060 1070 1080 TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC 1090 1100 1110 1120 1130 1140 CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL 1150 1160 1170 1180 1190 1200 GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL 1210 1220 1230 1240 1250 1260 FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM 1270 1280 1290 1300 1310 1320 DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI 1330 1340 1350 1360 1370 1380 KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN 1390 1400 1410 1420 1430 1440 FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA 1450 1460 1470 1480 1490 1500 KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL 1510 1520 1530 PELTNENAQY CPFSCETQAW SIATILETLY DL
	Isoform 5. Checksum: ABAC29497A4B08C6	FASTA	1,515	172,626
	10 20 30 40 50 60 MSLLTCAFYL GYELQFRLGP TLQGKAVTVY TNYPFPGETF NREKFRSLDW ENPTEREDDS 70 80 90 100 110 120 DKYCKLNLQQ SGSFQYYFLQ GNEKSGGGYI VVDPILRVGA DNHVLPLDCV TLQTFLAKCL 130 140 150 160 170 180 GPFDEWESRL RVAKESGYNM IHFTPLQTLG LSRSCYSLAN QLELNPDFSR PNRKYTWNDV 190 200 210 220 230 240 GQLVEKLKKE WNVICITDVV YNHTAANSKW IQEHPECAYN LVNSPHLKPA WVLDRALWRF 250 260 270 280 290 300 SCDVAEGKYK EKGIPALIEN DHHMNSIRKI IWEDIFPKLK LWEFFQVDVN KAVEQFRRLL 310 320 330 340 350 360 TQENRRVTKS DPNQHLTIIQ DPEYRRFGCT VDMNIALTTF IPHDKGPAAI EECCNWFHKR 370 380 390 400 410 420 MEELNSEKHR LINYHQEQAV NCLLGNVFYE RLAGHGPKLG PVTRKHPLVT RYFTFPFEEI 430 440 450 460 470 480 DFSMEESMIH LPNKACFLMA HNGWVMGDDP LRNFAEPGSE VYLRRELICW GDSVKLRYGN 490 500 510 520 530 540 KPEDCPYLWA HMKKYTEITA TYFQGVRLDN CHSTPLHVAE YMLDAARNLQ PNLYVVAELF 550 560 570 580 590 600 TGSEDLDNVF VTRLGISSLI REAMSAYNSH EEGRLVYRYG GEPVGSFVQP CLRPLMPAIA 610 620 630 640 650 660 HALFMDITHD NECPIVHRSA YDALPSTTIV SMACCASGST RGYDELVPHQ ISVVSEERFY 670 680 690 700 710 720 TKWNPEALPS NTGEVNFQSG IIAARCAISK LHQELGAKGF IQVYVDQVDE DIVAVTRHSP 730 740 750 760 770 780 SIHQSVVAVS RTAFRNPKTS FYSKEVPQMC IPGKIEEVVL EARTIERNTK PYRKDENSIN 790 800 810 820 830 840 GTPDITVEIR EHIQLNESKI VKQAGVATKG PNEYIQEIEF ENLSPGSVII FRVSLDPHAQ 850 860 870 880 890 900 VAVGILRNHL TQFSPHFKSG SLAVDNADPI LKIPFASLAS RLTLAELNQI LYRCESEEKE 910 920 930 940 950 960 DGGGCYDIPN WSALKYAGLQ GLMSVLAEIR PKNDLGHPFC NNLRSGDWMI DYVSNRLISR 970 980 990 1000 1010 1020 SGTIAEVGKW LQAMFFYLKQ IPRYLIPCYF DAILIGAYTT LLDTAWKQMS SFVQNGSTFV 1030 1040 1050 1060 1070 1080 KHLSLGSVQL CGVGKFPSLP ILSPALMDVP YRLNEITKEK EQCCVSLAAG LPHFSSGIFR 1090 1100 1110 1120 1130 1140 CWGRDTFIAL RGILLITGRY VEARNIILAF AGTLRHGLIP NLLGEGIYAR YNCRDAVWWW 1150 1160 1170 1180 1190 1200 LQCIQDYCKM VPNGLDILKC PVSRMYPTDD SAPLPAGTLD QPLFEVIQEA MQKHMQGIQF 1210 1220 1230 1240 1250 1260 RERNAGPQID RNMKDEGFNI TAGVDEETGF VYGGNRFNCG TWMDKMGESD RARNRGIPAT 1270 1280 1290 1300 1310 1320 PRDGSAVEIV GLSKSAVRWL LELSKKNIFP YHEVTVKRHG KAIKVSYDEW NRKIQDNFEK 1330 1340 1350 1360 1370 1380 LFHVSEDPSD LNEKHPNLVH KRGIYKDSYG ASSPWCDYQL RPNFTIAMVV APELFTTEKA 1390 1400 1410 1420 1430 1440 WKALEIAEKK LLGPLGMKTL DPDDMVYCGI YDNALDNDNY NLAKGFNYHQ GPEWLWPIGY 1450 1460 1470 1480 1490 1500 FLRAKLYFSR LMGPETTAKT IVLVKNVLSR HYVHLERSPW KGLPELTNEN AQYCPFSCET 1510 QAWSIATILE TLYDL
	Isoform 6. Checksum: C26E3817344DB637	FASTA	1,516	172,696
	10 20 30 40 50 60 MAPILSINLF IGYELQFRLG PTLQGKAVTV YTNYPFPGET FNREKFRSLD WENPTEREDD 70 80 90 100 110 120 SDKYCKLNLQ QSGSFQYYFL QGNEKSGGGY IVVDPILRVG ADNHVLPLDC VTLQTFLAKC 130 140 150 160 170 180 LGPFDEWESR LRVAKESGYN MIHFTPLQTL GLSRSCYSLA NQLELNPDFS RPNRKYTWND 190 200 210 220 230 240 VGQLVEKLKK EWNVICITDV VYNHTAANSK WIQEHPECAY NLVNSPHLKP AWVLDRALWR 250 260 270 280 290 300 FSCDVAEGKY KEKGIPALIE NDHHMNSIRK IIWEDIFPKL KLWEFFQVDV NKAVEQFRRL 310 320 330 340 350 360 LTQENRRVTK SDPNQHLTII QDPEYRRFGC TVDMNIALTT FIPHDKGPAA IEECCNWFHK 370 380 390 400 410 420 RMEELNSEKH RLINYHQEQA VNCLLGNVFY ERLAGHGPKL GPVTRKHPLV TRYFTFPFEE 430 440 450 460 470 480 IDFSMEESMI HLPNKACFLM AHNGWVMGDD PLRNFAEPGS EVYLRRELIC WGDSVKLRYG 490 500 510 520 530 540 NKPEDCPYLW AHMKKYTEIT ATYFQGVRLD NCHSTPLHVA EYMLDAARNL QPNLYVVAEL 550 560 570 580 590 600 FTGSEDLDNV FVTRLGISSL IREAMSAYNS HEEGRLVYRY GGEPVGSFVQ PCLRPLMPAI 610 620 630 640 650 660 AHALFMDITH DNECPIVHRS AYDALPSTTI VSMACCASGS TRGYDELVPH QISVVSEERF 670 680 690 700 710 720 YTKWNPEALP SNTGEVNFQS GIIAARCAIS KLHQELGAKG FIQVYVDQVD EDIVAVTRHS 730 740 750 760 770 780 PSIHQSVVAV SRTAFRNPKT SFYSKEVPQM CIPGKIEEVV LEARTIERNT KPYRKDENSI 790 800 810 820 830 840 NGTPDITVEI REHIQLNESK IVKQAGVATK GPNEYIQEIE FENLSPGSVI IFRVSLDPHA 850 860 870 880 890 900 QVAVGILRNH LTQFSPHFKS GSLAVDNADP ILKIPFASLA SRLTLAELNQ ILYRCESEEK 910 920 930 940 950 960 EDGGGCYDIP NWSALKYAGL QGLMSVLAEI RPKNDLGHPF CNNLRSGDWM IDYVSNRLIS 970 980 990 1000 1010 1020 RSGTIAEVGK WLQAMFFYLK QIPRYLIPCY FDAILIGAYT TLLDTAWKQM SSFVQNGSTF 1030 1040 1050 1060 1070 1080 VKHLSLGSVQ LCGVGKFPSL PILSPALMDV PYRLNEITKE KEQCCVSLAA GLPHFSSGIF 1090 1100 1110 1120 1130 1140 RCWGRDTFIA LRGILLITGR YVEARNIILA FAGTLRHGLI PNLLGEGIYA RYNCRDAVWW 1150 1160 1170 1180 1190 1200 WLQCIQDYCK MVPNGLDILK CPVSRMYPTD DSAPLPAGTL DQPLFEVIQE AMQKHMQGIQ 1210 1220 1230 1240 1250 1260 FRERNAGPQI DRNMKDEGFN ITAGVDEETG FVYGGNRFNC GTWMDKMGES DRARNRGIPA 1270 1280 1290 1300 1310 1320 TPRDGSAVEI VGLSKSAVRW LLELSKKNIF PYHEVTVKRH GKAIKVSYDE WNRKIQDNFE 1330 1340 1350 1360 1370 1380 KLFHVSEDPS DLNEKHPNLV HKRGIYKDSY GASSPWCDYQ LRPNFTIAMV VAPELFTTEK 1390 1400 1410 1420 1430 1440 AWKALEIAEK KLLGPLGMKT LDPDDMVYCG IYDNALDNDN YNLAKGFNYH QGPEWLWPIG 1450 1460 1470 1480 1490 1500 YFLRAKLYFS RLMGPETTAK TIVLVKNVLS RHYVHLERSP WKGLPELTNE NAQYCPFSCE 1510 TQAWSIATIL ETLYDL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme." Yang B.-Z., Ding J.-H., Enghild J.J., Bao Y., Chen Y.-T. J. Biol. Chem. 267:9294-9299(1992) [PubMed: 1374391] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE (ISOFORM 5). Tissue: Muscle.
[2]	"Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region." Bao Y., Dawson T.L. Jr., Chen Y.-T. Genomics 38:155-165(1996) [PubMed: 8954797] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
[3]	"Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms." Bao Y., Yang B.-Z., Dawson T.L. Jr., Chen Y.-T. Gene 197:389-398(1997) [PubMed: 9332391] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING. Tissue: Liver.
[4]	"Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan." Okubo M., Horinishi A., Takeuchi M., Suzuki Y., Sakura N., Hasegawa Y., Igarashi T., Goto K., Tahara H., Uchimoto S., Omichi K., Kanno H., Hayasaka K., Murase T. Hum. Genet. 106:108-115(2000) [PubMed: 10982190] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANTS.
[5]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[6]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[9]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-584, MASS SPECTROMETRY.
[10]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[11]	"Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient." Okubo M., Kanda F., Horinishi A., Takahashi K., Okuda S., Chihara K., Murase T. Hum. Mutat. 14:542-543(1999) [PubMed: 10571954] [Abstract] Cited for: VARIANT GSD3 ARG-1448, VARIANT ARG-1115.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M85168 mRNA. Translation: AAB41040.1. U84007 mRNA. Translation: AAB48466.1. U84008 mRNA. Translation: AAB48467.1. U84009 mRNA. Translation: AAB48468.1. U84010 mRNA. Translation: AAB48469.1. U84011 mRNA. Translation: AAB48470.1. AB035443 Genomic DNA. Translation: BAA88405.1. AB208867 mRNA. Translation: BAD92104.1. Different initiation. AC096949 Genomic DNA. No translation available. CH471097 Genomic DNA. Translation: EAW72985.1. BC078663 mRNA. Translation: AAH78663.1.
IPI	IPI00219065. IPI00219066. IPI00514126.
RefSeq	NP_000019.2. NP_000633.2. NP_000634.2. NP_000635.2. NP_000636.2. NP_000637.2.
UniGene	Hs.904
3D structure databases
SMR	P35573. Positions 138-233.
ModBase	Search...
Protein-protein interaction databases
STRING	P35573.
Protein family/group databases
CAZy	GH13. Glycoside Hydrolase Family 13.
PTM databases
PhosphoSite	P35573.
Proteomic databases
PRIDE	P35573.
Genome annotation databases
Ensembl	ENST00000294724; ENSP00000294724; ENSG00000162688; Homo sapiens. [Genome view] ENST00000311030; ENSP00000309020; ENSG00000162688; Homo sapiens. [Genome view] ENST00000361915; ENSP00000355106; ENSG00000162688; Homo sapiens. [Genome view] ENST00000370163; ENSP00000359182; ENSG00000162688; Homo sapiens. [Genome view] ENST00000370165; ENSP00000359184; ENSG00000162688; Homo sapiens. [Genome view]
GeneID	178.
KEGG	hsa:178.
UCSC	uc001dsi.1. human. uc001dsm.1. human. uc001dsn.1. human.
Organism-specific databases
CTD	178.
GeneCards	GC01P100088.
H-InvDB	HIX0023609.
HGNC	HGNC:321. AGL.
MIM	232400. phenotype. 610860. gene.
Orphanet	366. Glycogen storage disease type 3.
PharmGKB	PA24618.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11212.
HOVERGEN	P35573.
InParanoid	P35573.
OMA	AHALFMD.
OrthoDB	EOG90CM36.
PhylomeDB	P35573.
Enzyme and pathway databases
BRENDA	2.4.1.25. 247. 3.2.1.33. 247.
Reactome	REACT_474. Metabolism of carbohydrates.
Gene expression databases
ArrayExpress	P35573.
Bgee	P35573.
CleanEx	HS_AGL.
Genevestigator	P35573.
GermOnline	ENSG00000162688. Homo sapiens.
Family and domain databases
InterPro	IPR008928. 6-hairpin_glycosidase-like. IPR010401. GDE_C. IPR006421. Glyc_debranch. IPR017853. Glyco_hydro_catalytic_core. IPR013781. Glyco_hydro_sg_catalytic. [Graphical view]
Gene3D	G3DSA:3.20.20.80. Glyco_hydro_cat. 1 hit.
PANTHER	PTHR10569. GDE_C. 1 hit.
Pfam	PF06202. GDE_C. 1 hit. [Graphical view]
TIGRFAMs	TIGR01531. glyc_debranch. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	722.
SOURCE	Search...

Entry information

Entry name

GDE_HUMAN

Accession

Primary (citable) accession number: P35573
Secondary accession number(s): A6NCX7 , A6NEK2, P78354, P78544, Q59H92, Q6AZ90, Q9UF08

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	October 17, 2006
Last modified:	February 9, 2010
This is version 97 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.