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Tbio
GBE1
1,4-alpha-glucan-branching enzyme

Protein Summary
Description
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). The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000429644
  • ENSP00000410833
  • ENSG00000114480

Symbol
  • GBE
  • APBD
  • GSD4
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
1
disease perturbation
0.95
transcription factor binding site profile
0.91
transcription factor perturbation
0.84
kinase perturbation
0.76


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 385.91   (req: < 5)
Gene RIFs: 19   (req: <= 3)
Antibodies: 330   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 385.91   (req: >= 5)
Gene RIFs: 19   (req: > 3)
Antibodies: 330   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body mass index
2
1
3
82
neuroticism measurement
1
1
1
70.2
waist circumference
1
1
1
22.5
diet measurement
1
1
1
9.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
body mass index
3
82
neuroticism measurement
1
70.2
waist circumference
1
22.5
diet measurement
1
9.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
1,4-alpha-glucan branching enzyme 1
VGNC:14241
460520
Macaque
1,4-alpha-glucan branching enzyme 1
722884
Mouse
MGI:1921435
74185
Dog
1,4-alpha-glucan branching enzyme 1
VGNC:41132
478380
Horse
1,4-alpha-glucan branching enzyme 1
VGNC:18263
100034152
Species
Name
OMA
EggNOG
Inparanoid
Chimp
1,4-alpha-glucan branching enzyme 1
Macaque
1,4-alpha-glucan branching enzyme 1
Mouse
Dog
1,4-alpha-glucan branching enzyme 1
Horse
1,4-alpha-glucan branching enzyme 1
Protein Structure (3 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q04446-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (32)
Disease (R-HSA-1643685)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Disease
Reactome
Diseases of carbohydrate metabolism
Reactome
Diseases of metabolism
Reactome
Glycogen metabolism
Reactome
Glycogen storage disease type IV (GBE1)
Name
Explore in Pharos
Explore in Source
Disease
Diseases of carbohydrate metabolism
Diseases of metabolism
Glycogen metabolism
Glycogen storage disease type IV (GBE1)
Gene Ontology Terms (10)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-EC
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (124)
1 – 10 of 124
STBD1
Tbio
Novelty: 0.08362185
p_int: 0.999988558
p_ni: 0.000011442
Score: 0.9
Data Source: BioPlex,STRINGDB
GYS1
Tchem
Family: Enzyme
Novelty: 0.00721964
p_int: 0.999940564
p_ni: 0.000059436
Score: 0.999
Data Source: BioPlex,Reactome,STRINGDB
GYG1
Tbio
Family: Enzyme
Novelty: 0.01446978
p_int: 0.998061973
p_ni: 0.001938027
Score: 0.997
Data Source: BioPlex,Reactome,STRINGDB
HMGN2
Tbio
Novelty: 0.0080343
p_int: 0.846705848
p_ni: 0.153294152
Score: 0.332
Data Source: BioPlex,STRINGDB
AGL
Tbio
Novelty: 0.00166875
Score: 0.998
Data Source: STRINGDB
GYS2
Tbio
Family: Enzyme
Novelty: 0.01522741
Score: 0.995
Data Source: Reactome,STRINGDB
PYGL
Tchem
Family: Enzyme
Novelty: 0.01157477
Score: 0.994
Data Source: STRINGDB
PYGB
Tbio
Family: Enzyme
Novelty: 0.00224148
Score: 0.993
Data Source: STRINGDB
PYGM
Tchem
Family: Enzyme
Novelty: 0.00507768
Score: 0.993
Data Source: STRINGDB
GYG2
Tbio
Family: Enzyme
Novelty: 0.01520991
Score: 0.964
Data Source: Reactome,STRINGDB
Publication Statistics
PubMed Score  385.91

PubMed score by year
PubTator Score  100.04

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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