Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P35573

- GDE_HUMAN

UniProt

P35573 - GDE_HUMAN

Protein

Glycogen debranching enzyme

Gene

AGL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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
    5. protein binding Source: UniProtKB

    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

    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

    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

    ArrayExpressiP35573.
    BgeeiP35573.
    CleanExiHS_AGL.
    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 138-230.
    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.
    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

    MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY     50
    PFPGETFNRE KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE 100
    KSGGGYIVVD PILRVGADNH VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA 150
    KESGYNMIHF TPLQTLGLSR SCYSLANQLE LNPDFSRPNR KYTWNDVGQL 200
    VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN SPHLKPAWVL 250
    DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE 300
    FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM 350
    NIALTTFIPH DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL 400
    LGNVFYERLA GHGPKLGPVT RKHPLVTRYF TFPFEEIDFS MEESMIHLPN 450
    KACFLMAHNG WVMGDDPLRN FAEPGSEVYL RRELICWGDS VKLRYGNKPE 500
    DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML DAARNLQPNL 550
    YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP 600
    VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA 650
    CCASGSTRGY DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA 700
    ARCAISKLHQ ELGAKGFIQV YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA 750
    FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR TIERNTKPYR KDENSINGTP 800
    DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL SPGSVIIFRV 850
    SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT 900
    LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN 950
    DLGHPFCNNL RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR 1000
    YLIPCYFDAI LIGAYTTLLD TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV 1050
    GKFPSLPILS PALMDVPYRL NEITKEKEQC CVSLAAGLPH FSSGIFRCWG 1100
    RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL GEGIYARYNC 1150
    RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL 1200
    FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG 1250
    GNRFNCGTWM DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL 1300
    SKKNIFPYHE VTVKRHGKAI KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE 1350
    KHPNLVHKRG IYKDSYGASS PWCDYQLRPN FTIAMVVAPE LFTTEKAWKA 1400
    LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA KGFNYHQGPE 1450
    WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL 1500
    PELTNENAQY CPFSCETQAW SIATILETLY DL 1532

    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 138-230.
    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.
    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

    ArrayExpressi P35573.
    Bgeei P35573.
    CleanExi HS_AGL.
    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

    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 1, 2014
    This is version 143 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