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P35573

- GDE_HUMAN

UniProt

P35573 - GDE_HUMAN

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Protein

Glycogen debranching enzyme

Gene

AGL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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 activityi

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei526 – 5261By similarity
Active sitei529 – 5291By similarity
Active sitei627 – 6271By similarity

GO - Molecular functioni

  1. 4-alpha-glucanotransferase activity Source: RefGenome
  2. amylo-alpha-1,6-glucosidase activity Source: RefGenome
  3. glycogen debranching enzyme activity Source: ProtInc
  4. polysaccharide binding Source: Ensembl

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glucose metabolic process Source: Reactome
  3. glycogen biosynthetic process Source: UniProtKB-KW
  4. glycogen catabolic process Source: RefGenome
  5. response to glucocorticoid Source: Ensembl
  6. response to nutrient Source: Ensembl
  7. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Glycosyltransferase, Hydrolase, Transferase

Keywords - Biological processi

Glycogen biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS08717-MONOMER.
ReactomeiREACT_1008. Glycogen breakdown (glycogenolysis).

Protein family/group databases

CAZyiGH13. Glycoside Hydrolase Family 13.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycogen debranching enzyme
Alternative name(s):
Glycogen debrancher
Including the following 2 domains:
4-alpha-glucanotransferase (EC:2.4.1.25)
Alternative name(s):
Oligo-1,4-1,4-glucantransferase
Amylo-alpha-1,6-glucosidase (EC:3.2.1.33)
Short name:
Amylo-1,6-glucosidase
Alternative name(s):
Dextrin 6-alpha-D-glucosidase
Gene namesi
Name:AGL
Synonyms:GDE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:321. AGL.

Subcellular locationi

Cytoplasm 1 Publication
Note: Under glycogenolytic conditions localizes to the nucleus.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. inclusion body Source: Ensembl
  4. isoamylase complex Source: ProtInc
  5. nucleus Source: HPA
  6. sarcoplasmic reticulum Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1448 – 14481G → R in GSD3; deficient in ability to bind glycogen; unstable due to enhanced ubiquitination; forms aggresomes upon proteasome impairment. 1 Publication
VAR_009231

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

MIMi232400. phenotype.
Orphaneti366. Glycogen storage disease due to glycogen debranching enzyme deficiency.
PharmGKBiPA24618.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15321532Glycogen debranching enzymePRO_0000087450Add
BLAST

Post-translational modificationi

The N-terminus is blocked.
Ubiquitinated.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiP35573.
PaxDbiP35573.
PRIDEiP35573.

PTM databases

PhosphoSiteiP35573.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiP35573.
CleanExiHS_AGL.
ExpressionAtlasiP35573. baseline and differential.
GenevestigatoriP35573.

Organism-specific databases

HPAiHPA028498.

Interactioni

Subunit structurei

Monomer. Interacts with NHLRC1/malin.1 Publication

Protein-protein interaction databases

BioGridi106686. 22 interactions.
IntActiP35573. 9 interactions.
MINTiMINT-2802883.
STRINGi9606.ENSP00000294724.

Structurei

3D structure databases

ProteinModelPortaliP35573.
SMRiP35573. Positions 137-227.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni? – 1532Amylo-1,6-glucosidase
Regioni1 – ?4-alpha-glucanotransferase

Sequence similaritiesi

Belongs to the glycogen debranching enzyme family.Curated

Phylogenomic databases

eggNOGiCOG3408.
GeneTreeiENSGT00390000012596.
HOVERGENiHBG005824.
InParanoidiP35573.
KOiK01196.
OMAiPCLRPLM.
OrthoDBiEOG7C5M7F.
PhylomeDBiP35573.
TreeFamiTF300697.

Family and domain databases

Gene3Di3.20.20.80. 3 hits.
InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR010401. AGL/Gdb1.
IPR029436. AGL_euk_N.
IPR013781. Glyco_hydro_catalytic_dom.
IPR006421. Glycogen_debranch_met.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR10569. PTHR10569. 1 hit.
PfamiPF06202. GDE_C. 1 hit.
PF14699. hGDE_N. 1 hit.
[Graphical view]
SUPFAMiSSF48208. SSF48208. 2 hits.
SSF51445. SSF51445. 2 hits.
TIGRFAMsiTIGR01531. glyc_debranch. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P35573-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY
60 70 80 90 100
PFPGETFNRE KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE
110 120 130 140 150
KSGGGYIVVD PILRVGADNH VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA
160 170 180 190 200
KESGYNMIHF TPLQTLGLSR SCYSLANQLE LNPDFSRPNR KYTWNDVGQL
210 220 230 240 250
VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN SPHLKPAWVL
260 270 280 290 300
DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
310 320 330 340 350
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM
360 370 380 390 400
NIALTTFIPH DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL
410 420 430 440 450
LGNVFYERLA GHGPKLGPVT RKHPLVTRYF TFPFEEIDFS MEESMIHLPN
460 470 480 490 500
KACFLMAHNG WVMGDDPLRN FAEPGSEVYL RRELICWGDS VKLRYGNKPE
510 520 530 540 550
DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML DAARNLQPNL
560 570 580 590 600
YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
610 620 630 640 650
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA
660 670 680 690 700
CCASGSTRGY DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA
710 720 730 740 750
ARCAISKLHQ ELGAKGFIQV YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA
760 770 780 790 800
FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR TIERNTKPYR KDENSINGTP
810 820 830 840 850
DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL SPGSVIIFRV
860 870 880 890 900
SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
910 920 930 940 950
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN
960 970 980 990 1000
DLGHPFCNNL RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR
1010 1020 1030 1040 1050
YLIPCYFDAI LIGAYTTLLD TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV
1060 1070 1080 1090 1100
GKFPSLPILS PALMDVPYRL NEITKEKEQC CVSLAAGLPH FSSGIFRCWG
1110 1120 1130 1140 1150
RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL GEGIYARYNC
1160 1170 1180 1190 1200
RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
1210 1220 1230 1240 1250
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG
1260 1270 1280 1290 1300
GNRFNCGTWM DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL
1310 1320 1330 1340 1350
SKKNIFPYHE VTVKRHGKAI KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE
1360 1370 1380 1390 1400
KHPNLVHKRG IYKDSYGASS PWCDYQLRPN FTIAMVVAPE LFTTEKAWKA
1410 1420 1430 1440 1450
LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA KGFNYHQGPE
1460 1470 1480 1490 1500
WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
1510 1520 1530
PELTNENAQY CPFSCETQAW SIATILETLY DL

Note: The products of the mRNAs termed isoforms 1 to 4 are identical.

Length:1,532
Mass (Da):174,764
Last modified:October 17, 2006 - v3
Checksum:i9BF1BCC43B7904D3
GO
Isoform 5 (identifier: P35573-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: MGHSKQIRILLLNEMEKLEKTLFRLEQ → MSLLTCAFYL

Show »
Length:1,515
Mass (Da):172,626
Checksum:iABAC29497A4B08C6
GO
Isoform 6 (identifier: P35573-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: MGHSKQIRILLLNEMEKLEKTLFRLEQ → MAPILSINLFI

Show »
Length:1,516
Mass (Da):172,696
Checksum:iC26E3817344DB637
GO

Sequence cautioni

The sequence BAD92104.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1398 – 13981W → G in AAB41040. (PubMed:1374391)Curated
Sequence conflicti1398 – 13981W → G in AAB48466. (PubMed:8954797)Curated
Sequence conflicti1398 – 13981W → G in AAB48467. (PubMed:8954797)Curated
Sequence conflicti1398 – 13981W → G in AAB48468. (PubMed:8954797)Curated
Sequence conflicti1398 – 13981W → G in AAB48469. (PubMed:8954797)Curated
Sequence conflicti1398 – 13981W → G in AAB48470. (PubMed:8954797)Curated
Sequence conflicti1398 – 13981W → G(PubMed:9332391)Curated
Isoform 6 (identifier: P35573-3)
Sequence conflicti4 – 41I → L in AAB48470. (PubMed:8954797)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381T → A.
Corresponds to variant rs35278779 [ dbSNP | Ensembl ].
VAR_032084
Natural varianti229 – 2291Q → R.
Corresponds to variant rs17121403 [ dbSNP | Ensembl ].
VAR_028051
Natural varianti387 – 3871R → Q.
Corresponds to variant rs17121464 [ dbSNP | Ensembl ].
VAR_009621
Natural varianti701 – 7011A → S.
Corresponds to variant rs3736297 [ dbSNP | Ensembl ].
VAR_028052
Natural varianti962 – 9621S → C.
Corresponds to variant rs34714252 [ dbSNP | Ensembl ].
VAR_032085
Natural varianti1067 – 10671P → S.
Corresponds to variant rs3753494 [ dbSNP | Ensembl ].
VAR_020389
Natural varianti1115 – 11151G → R.1 Publication
Corresponds to variant rs2230307 [ dbSNP | Ensembl ].
VAR_009230
Natural varianti1144 – 11441I → N.
Corresponds to variant rs2230308 [ dbSNP | Ensembl ].
VAR_028053
Natural varianti1207 – 12071A → T.
Corresponds to variant rs11807956 [ dbSNP | Ensembl ].
VAR_051010
Natural varianti1253 – 12531R → H.
Corresponds to variant rs12043139 [ dbSNP | Ensembl ].
VAR_028054
Natural varianti1343 – 13431E → K.
Corresponds to variant rs112795811 [ dbSNP | Ensembl ].
VAR_009622
Natural varianti1448 – 14481G → R in GSD3; deficient in ability to bind glycogen; unstable due to enhanced ubiquitination; forms aggresomes upon proteasome impairment. 1 Publication
VAR_009231
Natural varianti1487 – 14871R → G.
Corresponds to variant rs12118058 [ dbSNP | Ensembl ].
VAR_028055

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2727MGHSK…FRLEQ → MSLLTCAFYL in isoform 5. CuratedVSP_004270Add
BLAST
Alternative sequencei1 – 2727MGHSK…FRLEQ → MAPILSINLFI in isoform 6. CuratedVSP_004271Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CH471097 Genomic DNA. Translation: EAW72982.1.
CH471097 Genomic DNA. Translation: EAW72983.1.
CH471097 Genomic DNA. Translation: EAW72987.1.
BC078663 mRNA. Translation: AAH78663.1.
CCDSiCCDS759.1. [P35573-1]
CCDS760.1. [P35573-3]
CCDS761.1. [P35573-2]
RefSeqiNP_000019.2. NM_000028.2. [P35573-1]
NP_000633.2. NM_000642.2. [P35573-1]
NP_000634.2. NM_000643.2. [P35573-1]
NP_000635.2. NM_000644.2. [P35573-1]
NP_000636.2. NM_000645.2. [P35573-2]
NP_000637.2. NM_000646.2. [P35573-3]
XP_005270614.1. XM_005270557.1. [P35573-1]
UniGeneiHs.904.

Genome annotation databases

EnsembliENST00000294724; ENSP00000294724; ENSG00000162688. [P35573-1]
ENST00000361302; ENSP00000354971; ENSG00000162688. [P35573-3]
ENST00000361522; ENSP00000354635; ENSG00000162688. [P35573-2]
ENST00000361915; ENSP00000355106; ENSG00000162688. [P35573-1]
ENST00000370161; ENSP00000359180; ENSG00000162688. [P35573-3]
ENST00000370163; ENSP00000359182; ENSG00000162688. [P35573-1]
ENST00000370165; ENSP00000359184; ENSG00000162688. [P35573-1]
GeneIDi178.
KEGGihsa:178.
UCSCiuc001dsi.1. human. [P35573-1]
uc001dsm.1. human. [P35573-3]
uc001dsn.1. human. [P35573-2]

Polymorphism databases

DMDMi116242491.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CH471097 Genomic DNA. Translation: EAW72982.1 .
CH471097 Genomic DNA. Translation: EAW72983.1 .
CH471097 Genomic DNA. Translation: EAW72987.1 .
BC078663 mRNA. Translation: AAH78663.1 .
CCDSi CCDS759.1. [P35573-1 ]
CCDS760.1. [P35573-3 ]
CCDS761.1. [P35573-2 ]
RefSeqi NP_000019.2. NM_000028.2. [P35573-1 ]
NP_000633.2. NM_000642.2. [P35573-1 ]
NP_000634.2. NM_000643.2. [P35573-1 ]
NP_000635.2. NM_000644.2. [P35573-1 ]
NP_000636.2. NM_000645.2. [P35573-2 ]
NP_000637.2. NM_000646.2. [P35573-3 ]
XP_005270614.1. XM_005270557.1. [P35573-1 ]
UniGenei Hs.904.

3D structure databases

ProteinModelPortali P35573.
SMRi P35573. Positions 137-227.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106686. 22 interactions.
IntActi P35573. 9 interactions.
MINTi MINT-2802883.
STRINGi 9606.ENSP00000294724.

Chemistry

BindingDBi P35573.
ChEMBLi CHEMBL5272.

Protein family/group databases

CAZyi GH13. Glycoside Hydrolase Family 13.

PTM databases

PhosphoSitei P35573.

Polymorphism databases

DMDMi 116242491.

Proteomic databases

MaxQBi P35573.
PaxDbi P35573.
PRIDEi P35573.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000294724 ; ENSP00000294724 ; ENSG00000162688 . [P35573-1 ]
ENST00000361302 ; ENSP00000354971 ; ENSG00000162688 . [P35573-3 ]
ENST00000361522 ; ENSP00000354635 ; ENSG00000162688 . [P35573-2 ]
ENST00000361915 ; ENSP00000355106 ; ENSG00000162688 . [P35573-1 ]
ENST00000370161 ; ENSP00000359180 ; ENSG00000162688 . [P35573-3 ]
ENST00000370163 ; ENSP00000359182 ; ENSG00000162688 . [P35573-1 ]
ENST00000370165 ; ENSP00000359184 ; ENSG00000162688 . [P35573-1 ]
GeneIDi 178.
KEGGi hsa:178.
UCSCi uc001dsi.1. human. [P35573-1 ]
uc001dsm.1. human. [P35573-3 ]
uc001dsn.1. human. [P35573-2 ]

Organism-specific databases

CTDi 178.
GeneCardsi GC01P100315.
GeneReviewsi AGL.
HGNCi HGNC:321. AGL.
HPAi HPA028498.
MIMi 232400. phenotype.
610860. gene.
neXtProti NX_P35573.
Orphaneti 366. Glycogen storage disease due to glycogen debranching enzyme deficiency.
PharmGKBi PA24618.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3408.
GeneTreei ENSGT00390000012596.
HOVERGENi HBG005824.
InParanoidi P35573.
KOi K01196.
OMAi PCLRPLM.
OrthoDBi EOG7C5M7F.
PhylomeDBi P35573.
TreeFami TF300697.

Enzyme and pathway databases

BioCyci MetaCyc:HS08717-MONOMER.
Reactomei REACT_1008. Glycogen breakdown (glycogenolysis).

Miscellaneous databases

GeneWikii Glycogen_debranching_enzyme.
GenomeRNAii 178.
NextBioi 722.
PROi P35573.
SOURCEi Search...

Gene expression databases

Bgeei P35573.
CleanExi HS_AGL.
ExpressionAtlasi P35573. baseline and differential.
Genevestigatori P35573.

Family and domain databases

Gene3Di 3.20.20.80. 3 hits.
InterProi IPR008928. 6-hairpin_glycosidase-like.
IPR010401. AGL/Gdb1.
IPR029436. AGL_euk_N.
IPR013781. Glyco_hydro_catalytic_dom.
IPR006421. Glycogen_debranch_met.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view ]
PANTHERi PTHR10569. PTHR10569. 1 hit.
Pfami PF06202. GDE_C. 1 hit.
PF14699. hGDE_N. 1 hit.
[Graphical view ]
SUPFAMi SSF48208. SSF48208. 2 hits.
SSF51445. SSF51445. 2 hits.
TIGRFAMsi TIGR01531. glyc_debranch. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  9. "A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease."
    Cheng A., Zhang M., Gentry M.S., Worby C.A., Dixon J.E., Saltiel A.R.
    Genes Dev. 21:2399-2409(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION, CHARACTERIZATION OF VARIANT GSD3 ARG-1448, INTERACTION WITH NHLRC1, SUBCELLULAR LOCATION.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  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] [Europe PMC] [Abstract]
    Cited for: VARIANT GSD3 ARG-1448, VARIANT ARG-1115.

Entry informationi

Entry nameiGDE_HUMAN
AccessioniPrimary (citable) accession number: P35573
Secondary accession number(s): A6NCX7
, A6NEK2, D3DT51, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: October 17, 2006
Last modified: October 29, 2014
This is version 144 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3