Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

1,4-alpha-glucan-branching enzyme

Gene

GBE1

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

Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable).Curated3 Publications

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycogen biosynthesis

This protein is involved in the pathway glycogen biosynthesis, which is part of Glycan biosynthesis.3 Publications
View all proteins of this organism that are known to be involved in the pathway glycogen biosynthesis and in Glycan biosynthesis.

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 sitei357NucleophileBy similarity1
Active sitei412Proton donorBy 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

GO - Biological processi

  • carbohydrate metabolic process Source: GO_Central
  • generation of precursor metabolites and energy Source: ProtInc
  • glycogen biosynthetic process Source: UniProtKB
  • glycogen metabolic process Source: ProtInc

<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 functionGlycosyltransferase, Transferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03772-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3322077 Glycogen synthesis
R-HSA-3878781 Glycogen storage disease type IV (GBE1)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00164

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
CBM48 Carbohydrate-Binding Module Family 48
GH13 Glycoside Hydrolase Family 13

<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:
1,4-alpha-glucan-branching enzyme (EC:2.4.1.181 Publication2 Publications)
Alternative name(s):
Brancher enzyme
Glycogen-branching enzyme
<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:GBE1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000114480.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4180 GBE1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607839 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q04446

<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

<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 4 (GSD4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.
See also OMIM:232500
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_022429224L → P in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852886EnsemblClinVar.1
Natural variantiVAR_022430257F → L in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852887EnsemblClinVar.1
Natural variantiVAR_022431329Y → S in GSD4; non-progressive form; impairs protein stability; 50% residual activity. 2 PublicationsCorresponds to variant dbSNP:rs80338671EnsemblClinVar.1
Natural variantiVAR_022432515R → C in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs80338672EnsemblClinVar.1
Natural variantiVAR_022434524R → Q in GSD4 and APBN. 3 PublicationsCorresponds to variant dbSNP:rs80338673EnsemblClinVar.1
Natural variantiVAR_022435545H → R in GSD4. 1 PublicationCorresponds to variant dbSNP:rs137852889EnsemblClinVar.1
Natural variantiVAR_022436628H → R in GSD4; childhood neuromuscular form; 15 to 25% residual activity. 1 PublicationCorresponds to variant dbSNP:rs137852891EnsemblClinVar.1
Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.1 Publication
Polyglucosan body neuropathy, adult form (APBN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
See also OMIM:263570
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022433515R → H in APBN. 1 PublicationCorresponds to variant dbSNP:rs201958741EnsemblClinVar.1
Natural variantiVAR_022434524R → Q in GSD4 and APBN. 3 PublicationsCorresponds to variant dbSNP:rs80338673EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
2632

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

More...
GeneReviewsi
GBE1

MalaCards human disease database

More...
MalaCardsi
GBE1
MIMi232500 phenotype
263570 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000114480

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

More...
Orphaneti
206583 Adult polyglucosan body disease
308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28594

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GBE1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
357529509

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00001887752 – 7021,4-alpha-glucan-branching enzymeAdd BLAST701

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 residuei2N-acetylalanineCombined sources1
Modified residuei173PhosphotyrosineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q04446

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q04446

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q04446

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

More...
PaxDbi
Q04446

PeptideAtlas

More...
PeptideAtlasi
Q04446

PRoteomics IDEntifications database

More...
PRIDEi
Q04446

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58242

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q04446

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q04446

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

More...
PhosphoSitePlusi
Q04446

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q04446

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114480 Expressed in 235 organ(s), highest expression level in adipose tissue

CleanEx database of gene expression profiles

More...
CleanExi
HS_GBE1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q04446 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q04446 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038073
HPA038074
HPA038075

<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.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108902, 29 interactors

Protein interaction database and analysis system

More...
IntActi
Q04446, 12 interactors

Molecular INTeraction database

More...
MINTi
Q04446

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000410833

<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

Secondary structure

1702
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BZYX-ray2.75A/B/C1-702[»]
5CLTX-ray2.79A/B/C38-700[»]
5CLWX-ray2.80A/B/C38-700[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q04446

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

More...
SMRi
Q04446

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>Regioni62 – 63Substrate bindingCombined sources1 Publication2
Regioni91 – 93Substrate bindingCombined sources1 Publication3
Regioni118 – 121Substrate bindingCombined sources1 Publication4
Regioni333 – 336Substrate bindingCombined sources1 Publication4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Binds its carbohydrate substrate close to the active site, but also via regions close to the N-terminus; this may result in increased affinity and therefore increased catalytic efficiency.1 Publication

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0470 Eukaryota
COG0296 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000017040

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051734

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q04446

KEGG Orthology (KO)

More...
KOi
K00700

Identification of Orthologs from Complete Genome Data

More...
OMAi
NLKWNMG

Database of Orthologous Groups

More...
OrthoDBi
165238at2759

TreeFam database of animal gene trees

More...
TreeFami
TF300783

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 1 hit
2.60.40.1180, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006048 A-amylase/branching_C
IPR037439 Branching_enzy
IPR006047 Glyco_hydro_13_cat_dom
IPR004193 Glyco_hydro_13_N
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
IPR014756 Ig_E-set

The PANTHER Classification System

More...
PANTHERi
PTHR43651 PTHR43651, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00128 Alpha-amylase, 1 hit
PF02806 Alpha-amylase_C, 1 hit
PF02922 CBM_48, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000463 GlgB, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00642 Aamy, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445 SSF51445, 1 hit
SSF81296 SSF81296, 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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

Q04446-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAPMTPAAR PEDYEAALNA ALADVPELAR LLEIDPYLKP YAVDFQRRYK
60 70 80 90 100
QFSQILKNIG ENEGGIDKFS RGYESFGVHR CADGGLYCKE WAPGAEGVFL
110 120 130 140 150
TGDFNGWNPF SYPYKKLDYG KWELYIPPKQ NKSVLVPHGS KLKVVITSKS
160 170 180 190 200
GEILYRISPW AKYVVREGDN VNYDWIHWDP EHSYEFKHSR PKKPRSLRIY
210 220 230 240 250
ESHVGISSHE GKVASYKHFT CNVLPRIKGL GYNCIQLMAI MEHAYYASFG
260 270 280 290 300
YQITSFFAAS SRYGTPEELQ ELVDTAHSMG IIVLLDVVHS HASKNSADGL
310 320 330 340 350
NMFDGTDSCY FHSGPRGTHD LWDSRLFAYS SWEILRFLLS NIRWWLEEYR
360 370 380 390 400
FDGFRFDGVT SMLYHHHGVG QGFSGDYSEY FGLQVDEDAL TYLMLANHLV
410 420 430 440 450
HTLCPDSITI AEDVSGMPAL CSPISQGGGG FDYRLAMAIP DKWIQLLKEF
460 470 480 490 500
KDEDWNMGDI VYTLTNRRYL EKCIAYAESH DQALVGDKSL AFWLMDAEMY
510 520 530 540 550
TNMSVLTPFT PVIDRGIQLH KMIRLITHGL GGEGYLNFMG NEFGHPEWLD
560 570 580 590 600
FPRKGNNESY HYARRQFHLT DDDLLRYKFL NNFDRDMNRL EERYGWLAAP
610 620 630 640 650
QAYVSEKHEG NKIIAFERAG LLFIFNFHPS KSYTDYRVGT ALPGKFKIVL
660 670 680 690 700
DSDAAEYGGH QRLDHSTDFF SEAFEHNGRP YSLLVYIPSR VALILQNVDL

PN
Length:702
Mass (Da):80,474
Last modified:November 16, 2011 - 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:iDEF534C821A72323
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
E9PGM4E9PGM4_HUMAN
1,4-alpha-glucan-branching enzyme
GBE1
661Annotation 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>

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 conflicti88C → S in AAA58642 (PubMed:8463281).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022109190R → G. Corresponds to variant dbSNP:rs2229519EnsemblClinVar.1
Natural variantiVAR_022429224L → P in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852886EnsemblClinVar.1
Natural variantiVAR_022430257F → L in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs137852887EnsemblClinVar.1
Natural variantiVAR_034747265T → S1 PublicationCorresponds to variant dbSNP:rs17856389Ensembl.1
Natural variantiVAR_022431329Y → S in GSD4; non-progressive form; impairs protein stability; 50% residual activity. 2 PublicationsCorresponds to variant dbSNP:rs80338671EnsemblClinVar.1
Natural variantiVAR_034748334I → V2 PublicationsCorresponds to variant dbSNP:rs2172397Ensembl.1
Natural variantiVAR_034749507T → A. Corresponds to variant dbSNP:rs2228389EnsemblClinVar.1
Natural variantiVAR_022432515R → C in GSD4; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs80338672EnsemblClinVar.1
Natural variantiVAR_022433515R → H in APBN. 1 PublicationCorresponds to variant dbSNP:rs201958741EnsemblClinVar.1
Natural variantiVAR_022434524R → Q in GSD4 and APBN. 3 PublicationsCorresponds to variant dbSNP:rs80338673EnsemblClinVar.1
Natural variantiVAR_022435545H → R in GSD4. 1 PublicationCorresponds to variant dbSNP:rs137852889EnsemblClinVar.1
Natural variantiVAR_022436628H → R in GSD4; childhood neuromuscular form; 15 to 25% residual activity. 1 PublicationCorresponds to variant dbSNP:rs137852891EnsemblClinVar.1

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
L07956 mRNA Translation: AAA58642.1
AK125918 mRNA Translation: BAG54265.1
AC017015 Genomic DNA No translation available.
AC025029 Genomic DNA No translation available.
AC099049 Genomic DNA No translation available.
BC012098 mRNA Translation: AAH12098.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS54612.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A46075

NCBI Reference Sequences

More...
RefSeqi
NP_000149.3, NM_000158.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.436062

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000429644; ENSP00000410833; ENSG00000114480

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2632

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2632

UCSC genome browser

More...
UCSCi
uc062lqz.1 human

Keywords - Coding sequence diversityi

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
L07956 mRNA Translation: AAA58642.1
AK125918 mRNA Translation: BAG54265.1
AC017015 Genomic DNA No translation available.
AC025029 Genomic DNA No translation available.
AC099049 Genomic DNA No translation available.
BC012098 mRNA Translation: AAH12098.1
CCDSiCCDS54612.1
PIRiA46075
RefSeqiNP_000149.3, NM_000158.3
UniGeneiHs.436062

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BZYX-ray2.75A/B/C1-702[»]
5CLTX-ray2.79A/B/C38-700[»]
5CLWX-ray2.80A/B/C38-700[»]
ProteinModelPortaliQ04446
SMRiQ04446
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108902, 29 interactors
IntActiQ04446, 12 interactors
MINTiQ04446
STRINGi9606.ENSP00000410833

Protein family/group databases

CAZyiCBM48 Carbohydrate-Binding Module Family 48
GH13 Glycoside Hydrolase Family 13

PTM databases

CarbonylDBiQ04446
iPTMnetiQ04446
PhosphoSitePlusiQ04446
SwissPalmiQ04446

Polymorphism and mutation databases

BioMutaiGBE1
DMDMi357529509

Proteomic databases

EPDiQ04446
jPOSTiQ04446
MaxQBiQ04446
PaxDbiQ04446
PeptideAtlasiQ04446
PRIDEiQ04446
ProteomicsDBi58242

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2632
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000429644; ENSP00000410833; ENSG00000114480
GeneIDi2632
KEGGihsa:2632
UCSCiuc062lqz.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2632
DisGeNETi2632
EuPathDBiHostDB:ENSG00000114480.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GBE1
GeneReviewsiGBE1
HGNCiHGNC:4180 GBE1
HPAiHPA038073
HPA038074
HPA038075
MalaCardsiGBE1
MIMi232500 phenotype
263570 phenotype
607839 gene
neXtProtiNX_Q04446
OpenTargetsiENSG00000114480
Orphaneti206583 Adult polyglucosan body disease
308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
PharmGKBiPA28594

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0470 Eukaryota
COG0296 LUCA
GeneTreeiENSGT00390000017040
HOVERGENiHBG051734
InParanoidiQ04446
KOiK00700
OMAiNLKWNMG
OrthoDBi165238at2759
TreeFamiTF300783

Enzyme and pathway databases

UniPathwayi
UPA00164

BioCyciMetaCyc:HS03772-MONOMER
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3878781 Glycogen storage disease type IV (GBE1)

Miscellaneous databases

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

More...
ChiTaRSi
GBE1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GBE1

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

More...
GenomeRNAii
2632

Protein Ontology

More...
PROi
PR:Q04446

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114480 Expressed in 235 organ(s), highest expression level in adipose tissue
CleanExiHS_GBE1
ExpressionAtlasiQ04446 baseline and differential
GenevisibleiQ04446 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
2.60.40.1180, 1 hit
InterProiView protein in InterPro
IPR006048 A-amylase/branching_C
IPR037439 Branching_enzy
IPR006047 Glyco_hydro_13_cat_dom
IPR004193 Glyco_hydro_13_N
IPR013780 Glyco_hydro_b
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
PANTHERiPTHR43651 PTHR43651, 1 hit
PfamiView protein in Pfam
PF00128 Alpha-amylase, 1 hit
PF02806 Alpha-amylase_C, 1 hit
PF02922 CBM_48, 1 hit
PIRSFiPIRSF000463 GlgB, 1 hit
SMARTiView protein in SMART
SM00642 Aamy, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit
SSF81296 SSF81296, 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 nameiGLGB_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: Q04446
Secondary accession number(s): B3KWV3, Q96EN0
<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: November 16, 2011
Last modified: January 16, 2019
This is version 184 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  8. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again