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UniProtKB - P35573 (GDE_HUMAN)

Protein

Glycogen debranching enzyme

Gene

AGL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>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. EC:2.4.1.25
  • Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin. EC:3.2.1.33

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei526By similarity1
Active sitei529By similarity1
Active sitei627By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosidase, Glycosyltransferase, Hydrolase, Multifunctional enzyme, Transferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS08717-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.2.1.33 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6798695 Neutrophil degranulation
R-HSA-70221 Glycogen breakdown (glycogenolysis)

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GH13 Glycoside Hydrolase Family 13
GH133 Glycoside Hydrolase Family 133

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AGL
Synonyms:GDE
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000162688.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:321 AGL

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610860 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35573

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glycogen storage disease 3 (GSD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:232400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0092311448G → R in GSD3; deficient in ability to bind glycogen; unstable due to enhanced ubiquitination; forms aggresomes upon proteasome impairment. 2 PublicationsCorresponds to variant dbSNP:rs118203964EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

More...DisGeNETi		178

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		AGL

MalaCards human disease database

More...MalaCardsi		AGL
MIMi232400 phenotype

Open Targets

More...OpenTargetsi		ENSG00000162688

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		366 Glycogen storage disease due to glycogen debranching enzyme deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24618

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5272

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AGL

Domain mapping of disease mutations (DMDM)

More...DMDMi		116242491

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000874501 – 1532Glycogen debranching enzymeAdd BLAST1532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei64PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The N-terminus is blocked.
Ubiquitinated.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P35573

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P35573

MaxQB - The MaxQuant DataBase

More...MaxQBi		P35573

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P35573

PeptideAtlas

More...PeptideAtlasi		P35573

PRoteomics IDEntifications database

More...PRIDEi		P35573

ProteomicsDB human proteome resource

More...ProteomicsDBi		55089
55090 [P35573-2]
55091 [P35573-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35573

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P35573

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000162688 Expressed in 238 organ(s), highest expression level in biceps brachii

CleanEx database of gene expression profiles

More...CleanExi		HS_AGL

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P35573 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35573 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA028498
HPA054340

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. Interacts with NHLRC1/malin.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		106686, 54 interactors

Protein interaction database and analysis system

More...IntActi		P35573, 11 interactors

Molecular INTeraction database

More...MINTi		P35573

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000294724

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P35573

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P35573

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P35573

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni? – 1532Amylo-1,6-glucosidase
Regioni1 – ?4-alpha-glucanotransferase

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycogen debranching enzyme family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3625 Eukaryota
COG3408 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012596

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG005824

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35573

KEGG Orthology (KO)

More...KOi		K01196

Identification of Orthologs from Complete Genome Data

More...OMAi		FCDNLRS

Database of Orthologous Groups

More...OrthoDBi		33175at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35573

TreeFam database of animal gene trees

More...TreeFami		TF300697

Family and domain databases

Conserved Domains Database

More...CDDi		cd11327 AmyAc_Glg_debranch_2, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008928 6-hairpin_glycosidase_sf
IPR010401 AGL/Gdb1
IPR032788 AGL_central
IPR029436 AGL_euk_N
IPR032792 AGL_glucanoTrfase
IPR032790 GDE_C
IPR006421 Glycogen_debranch_met
IPR017853 Glycoside_hydrolase_SF

The PANTHER Classification System

More...PANTHERi		PTHR10569 PTHR10569, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06202 GDE_C, 1 hit
PF14701 hDGE_amylase, 1 hit
PF14702 hGDE_central, 1 hit
PF14699 hGDE_N, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48208 SSF48208, 1 hit
SSF51445 SSF51445, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01531 glyc_debranch, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1C7CYW1A0A1C7CYW1_HUMAN
Glycogen debranching enzyme
AGL
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1398W → G in AAB41040 (PubMed:1374391).Curated1
Sequence conflicti1398W → G in AAB48466 (PubMed:8954797).Curated1
Sequence conflicti1398W → G in AAB48467 (PubMed:8954797).Curated1
Sequence conflicti1398W → G in AAB48468 (PubMed:8954797).Curated1
Sequence conflicti1398W → G in AAB48469 (PubMed:8954797).Curated1
Sequence conflicti1398W → G in AAB48470 (PubMed:8954797).Curated1
Sequence conflicti1398W → G (PubMed:9332391).Curated1
Isoform 6 (identifier: P35573-3)
Sequence conflicti4I → L in AAB48470 (PubMed:8954797).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03208438T → A. Corresponds to variant dbSNP:rs35278779EnsemblClinVar.1
Natural variantiVAR_028051229Q → R. Corresponds to variant dbSNP:rs17121403EnsemblClinVar.1
Natural variantiVAR_009621387R → Q. Corresponds to variant dbSNP:rs17121464EnsemblClinVar.1
Natural variantiVAR_028052701A → S. Corresponds to variant dbSNP:rs3736297Ensembl.1
Natural variantiVAR_032085962S → C. Corresponds to variant dbSNP:rs34714252EnsemblClinVar.1
Natural variantiVAR_0203891067P → S. Corresponds to variant dbSNP:rs3753494EnsemblClinVar.1
Natural variantiVAR_0092301115G → R1 PublicationCorresponds to variant dbSNP:rs2230307EnsemblClinVar.1
Natural variantiVAR_0280531144I → N. Corresponds to variant dbSNP:rs2230308EnsemblClinVar.1
Natural variantiVAR_0510101207A → T. Corresponds to variant dbSNP:rs11807956EnsemblClinVar.1
Natural variantiVAR_0280541253R → H. Corresponds to variant dbSNP:rs12043139EnsemblClinVar.1
Natural variantiVAR_0096221343E → K. Corresponds to variant dbSNP:rs112795811EnsemblClinVar.1
Natural variantiVAR_0092311448G → R in GSD3; deficient in ability to bind glycogen; unstable due to enhanced ubiquitination; forms aggresomes upon proteasome impairment. 2 PublicationsCorresponds to variant dbSNP:rs118203964EnsemblClinVar.1
Natural variantiVAR_0280551487R → G. Corresponds to variant dbSNP:rs12118058Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0042701 – 27MGHSK…FRLEQ → MSLLTCAFYL in isoform 5. CuratedAdd BLAST27
Alternative sequenceiVSP_0042711 – 27MGHSK…FRLEQ → MAPILSINLFI in isoform 6. CuratedAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS759.1 [P35573-1]
CCDS760.1 [P35573-3]

NCBI Reference Sequences

More...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_000637.2, NM_000646.2 [P35573-3]
XP_005270614.1, XM_005270557.2 [P35573-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.904

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000294724; ENSP00000294724; ENSG00000162688 [P35573-1]
ENST00000361915; ENSP00000355106; ENSG00000162688 [P35573-1]
ENST00000370161; ENSP00000359180; ENSG00000162688 [P35573-3]
ENST00000370163; ENSP00000359182; ENSG00000162688 [P35573-1]
ENST00000370165; ENSP00000359184; ENSG00000162688 [P35573-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		178

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:178

UCSC genome browser

More...UCSCi		uc001dsi.2 human [P35573-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
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_000637.2, NM_000646.2 [P35573-3]
XP_005270614.1, XM_005270557.2 [P35573-1]
UniGeneiHs.904

3D structure databases

ProteinModelPortaliP35573
SMRiP35573
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106686, 54 interactors
IntActiP35573, 11 interactors
MINTiP35573
STRINGi9606.ENSP00000294724

Chemistry databases

BindingDBiP35573
ChEMBLiCHEMBL5272

Protein family/group databases

CAZyiGH13 Glycoside Hydrolase Family 13
GH133 Glycoside Hydrolase Family 133

PTM databases

iPTMnetiP35573
PhosphoSitePlusiP35573

Polymorphism and mutation databases

BioMutaiAGL
DMDMi116242491

Proteomic databases

EPDiP35573
jPOSTiP35573
MaxQBiP35573
PaxDbiP35573
PeptideAtlasiP35573
PRIDEiP35573
ProteomicsDBi55089
55090 [P35573-2]
55091 [P35573-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		178
DisGeNETi178
EuPathDBiHostDB:ENSG00000162688.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		AGL
GeneReviewsiAGL
HGNCiHGNC:321 AGL
HPAiHPA028498
HPA054340
MalaCardsiAGL
MIMi232400 phenotype
610860 gene
neXtProtiNX_P35573
OpenTargetsiENSG00000162688
Orphaneti366 Glycogen storage disease due to glycogen debranching enzyme deficiency
PharmGKBiPA24618

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3625 Eukaryota
COG3408 LUCA
GeneTreeiENSGT00390000012596
HOVERGENiHBG005824
InParanoidiP35573
KOiK01196
OMAiFCDNLRS
OrthoDBi33175at2759
PhylomeDBiP35573
TreeFamiTF300697

Enzyme and pathway databases

BioCyciMetaCyc:HS08717-MONOMER
BRENDAi3.2.1.33 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-70221 Glycogen breakdown (glycogenolysis)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		AGL human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Glycogen_debranching_enzyme

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		178

Protein Ontology

More...PROi		PR:P35573

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000162688 Expressed in 238 organ(s), highest expression level in biceps brachii
CleanExiHS_AGL
ExpressionAtlasiP35573 baseline and differential
GenevisibleiP35573 HS

Family and domain databases

CDDicd11327 AmyAc_Glg_debranch_2, 1 hit
InterProiView protein in InterPro
IPR008928 6-hairpin_glycosidase_sf
IPR010401 AGL/Gdb1
IPR032788 AGL_central
IPR029436 AGL_euk_N
IPR032792 AGL_glucanoTrfase
IPR032790 GDE_C
IPR006421 Glycogen_debranch_met
IPR017853 Glycoside_hydrolase_SF
PANTHERiPTHR10569 PTHR10569, 1 hit
PfamiView protein in Pfam
PF06202 GDE_C, 1 hit
PF14701 hDGE_amylase, 1 hit
PF14702 hGDE_central, 1 hit
PF14699 hGDE_N, 1 hit
SUPFAMiSSF48208 SSF48208, 1 hit
SSF51445 SSF51445, 1 hit
TIGRFAMsiTIGR01531 glyc_debranch, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDE_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P35573
Secondary accession number(s): A6NCX7
, A6NEK2, D3DT51, P78354, P78544, Q59H92, Q6AZ90, Q9UF08
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: October 17, 2006
Last modified: January 16, 2019
This is version 186 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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