GBE1 Gene (Protein Coding)

1,4-Alpha-Glucan Branching Enzyme 1

GC03M081489
GIFtS:
44
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 wit... See more...

Aliases for GBE1 Gene

Aliases for GBE1 Gene

  • 1,4-Alpha-Glucan Branching Enzyme 1 2 3 5
  • Glucan (1,4-Alpha-), Branching Enzyme 1 2 3
  • 1,4-Alpha-Glucan-Branching Enzyme 3 4
  • Glycogen Branching Enzyme 2 3
  • Brancher Enzyme 3 4
  • EC 2.4.1.18 4 51
  • Amylo-(1,4 To 1,6) Transglucosidase 3
  • Amylo-(1,4 To 1,6) Transglycosylase 3
  • Glycogen Storage Disease Type IV 2
  • Glycogen-Branching Enzyme 4
  • Andersen Disease 2
  • APBD 3
  • GSD4 3
  • GBE1 5
  • GBE 3

External Ids for GBE1 Gene

Previous GeneCards Identifiers for GBE1 Gene

  • GC03M079179
  • GC03M081224
  • GC03M081344
  • GC03M081459
  • GC03M081621

Summaries for GBE1 Gene

Entrez Gene Summary for GBE1 Gene

  • 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]

GeneCards Summary for GBE1 Gene

GBE1 (1,4-Alpha-Glucan Branching Enzyme 1) is a Protein Coding gene. Diseases associated with GBE1 include Glycogen Storage Disease Iv and Polyglucosan Body Neuropathy, Adult Form. Among its related pathways are Metabolism and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and 1,4-alpha-glucan branching enzyme activity. An important paralog of this gene is SLC3A1.

UniProtKB/Swiss-Prot Summary for GBE1 Gene

  • 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).

Gene Wiki entry for GBE1 Gene

Additional gene information for GBE1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GBE1 Gene

Genomics for GBE1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GBE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03J081757 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.5 +1.6 1578 5.9 SP1 HNRNPL GATAD2A ZNF629 REST SOX13 IKZF1 KDM1A CTCF ZNF692 GBE1 lnc-CADM2-19 ENSG00000242190 piR-56229-058
GH03J081725 Enhancer 1 Ensembl ENCODE dbSUPER 17.9 +32.1 32144 8.2 PRDM1 ZIC2 PKNOX1 SP1 HMBOX1 JUND ATF2 EP300 WT1 FOSL2 GBE1 piR-56229-058 lnc-ROBO1-7
GH03J081734 Enhancer 0.9 Ensembl ENCODE dbSUPER 17.5 +26.1 26052 2.4 SOX13 CTBP1 CEBPB JUND EP300 BHLHE40 FOS ZNF217 GBE1 piR-56229-058 lnc-ROBO1-7
GH03J081740 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.6 +18.5 18544 7 LEF1 IKZF1 ZNF7 JUND MTA2 PKNOX1 REST SP1 DPF2 HDAC1 GBE1 piR-56229-058 lnc-ROBO1-7
GH03J081868 Enhancer 0.6 Ensembl 10.7 -107.9 -107856 1 RFX1 SP1 CEBPA BMI1 ATF3 YY1 JUND SPI1 RAD21 HNF4A GBE1 piR-48553-195 LOC105377178 ENSG00000242009
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBE1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBE1

Top Transcription factor binding sites by QIAGEN in the GBE1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Chx10
  • Evi-1
  • GR
  • GR-alpha
  • POU2F1a
  • POU6F1 (c2)
  • STAT3

Genomic Locations for GBE1 Gene

Genomic Locations for GBE1 Gene
chr3:81,489,703-81,761,645
(GRCh38/hg38)
Size:
271,943 bases
Orientation:
Minus strand
chr3:81,538,850-81,811,312
(GRCh37/hg19)
Size:
272,463 bases
Orientation:
Minus strand

Genomic View for GBE1 Gene

Genes around GBE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBE1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GBE1 Gene

Proteins for GBE1 Gene

Products:

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  3. Assay

  • Protein details for GBE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04446-GLGB_HUMAN
    Recommended name:
    1,4-alpha-glucan-branching enzyme
    Protein Accession:
    Q04446
    Secondary Accessions:
    • B3KWV3
    • Q96EN0

    Protein attributes for GBE1 Gene

    Size:
    702 amino acids
    Molecular mass:
    80474 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for GBE1 Gene

neXtProt entry for GBE1 Gene

Protein Expression for GBE1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for GBE1 Gene

Q04446:
  • YYASFGY
  • FIFNFHP
  • GYLNFMGNEFGHPEW
  • EMYTNMS
  • EVLRFLLSN
  • LHKMIRLIT
  • DKFSRGYE
  • KDEDWNMG
  • RLAMAIPD
  • ESHDQALVGDK
  • HSHASKN
  • DGLNMFDG
  • LGGEGYLNF
  • FDYRLAM
  • LILQNVD
  • YCKEWAPGAEGVFLTG
  • YIPSRVAL
  • GNEFGHPEWLDFPR
  • YFHSGPRG
  • FFAASSR
  • FDGFRFDG
  • EDVSGMP

Post-translational modifications for GBE1 Gene

  • Ubiquitination at Lys39, Lys68, Lys162, Lys217, Lys442, Lys472, and Lys578
  • Modification sites at PhosphoSitePlus

Other Protein References for GBE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GBE1 Gene

Gene Families for GBE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GBE1 Gene

InterPro:
Blocks:
  • Glycoside hydrolase, family 13, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GBE1 Gene

GenScript: Design optimal peptide antigens:
  • Glycogen-branching enzyme (GLGB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q04446

UniProtKB/Swiss-Prot:

GLGB_HUMAN :
  • 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.
  • Belongs to the glycosyl hydrolase 13 family. GlgB subfamily.
Domain:
  • 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.
Family:
  • Belongs to the glycosyl hydrolase 13 family. GlgB subfamily.
genes like me logo Genes that share domains with GBE1: view

Function for GBE1 Gene

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  6. Cell Line

Molecular function for GBE1 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain.; EC=2.4.1.18; Evidence={ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8613547, ECO:0000305|PubMed:8463281};.
GENATLAS Biochemistry:
amylo (1,4->1,6) trans-glucosidase,branching enzyme,glycogen catabolism

Enzyme Numbers (IUBMB) for GBE1 Gene

Phenotypes From GWAS Catalog for GBE1 Gene

Gene Ontology (GO) - Molecular Function for GBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003844 1,4-alpha-glucan branching enzyme activity IEA,IDA 26199317
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0005515 protein binding IPI 24837458
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GBE1: view
genes like me logo Genes that share phenotypes with GBE1: view

Human Phenotype Ontology for GBE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GBE1 Gene

MGI Knock Outs for GBE1:
  • Gbe1 Gbe1<tm1.1Hoa>
  • Gbe1 Gbe1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBE1

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for GBE1 Gene

Localization for GBE1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBE1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 2
mitochondrion 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GBE1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GBE1 Gene

Pathways & Interactions for GBE1 Gene

genes like me logo Genes that share pathways with GBE1: view

Pathways by source for GBE1 Gene

2 BioSystems pathways for GBE1 Gene
2 KEGG pathways for GBE1 Gene
1 GeneGo (Thomson Reuters) pathway for GBE1 Gene
  • Glycogen metabolism

UniProtKB/Swiss-Prot Q04446-GLGB_HUMAN

  • Pathway: Glycan biosynthesis; glycogen biosynthesis.

Gene Ontology (GO) - Biological Process for GBE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA,IBA 21873635
GO:0005977 glycogen metabolic process TAS 8613547
GO:0005978 glycogen biosynthetic process IEA,TAS --
GO:0006091 generation of precursor metabolites and energy TAS 8613547
genes like me logo Genes that share ontologies with GBE1: view

No data available for SIGNOR curated interactions for GBE1 Gene

Drugs & Compounds for GBE1 Gene

Products:

  1. Drug

(3) Additional Compounds for GBE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GBE1: view

Transcripts for GBE1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GBE1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBE1

Alternative Splicing Database (ASD) splice patterns (SP) for GBE1 Gene

No ASD Table

Relevant External Links for GBE1 Gene

GeneLoc Exon Structure for
GBE1

Expression for GBE1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GBE1 Gene

mRNA expression in normal human tissues for GBE1 Gene
mRNA expression by BioGPS for GBE1 GenemRNA expression by GTEx for GBE1 Gene

mRNA differential expression in normal tissues according to GTEx for GBE1 Gene

This gene is overexpressed in Muscle - Skeletal (x6.9).

Protein differential expression in normal tissues from HIPED for GBE1 Gene

This gene is overexpressed in Nasopharynx (9.9), Uterus (7.6), and Tonsil (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GBE1 Gene



Protein tissue co-expression partners for GBE1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GBE1

SOURCE GeneReport for Unigene cluster for GBE1 Gene:

Hs.436062

Evidence on tissue expression from TISSUES for GBE1 Gene

  • Liver(4.6)
  • Nervous system(4.1)
  • Skin(3.1)
  • Muscle(3.1)
  • Heart(3.1)
  • Blood(2.8)
  • Kidney(2.8)
  • Eye(2.4)
  • Pancreas(2.4)
  • Intestine(2.3)
  • Gall bladder(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GBE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • kidney
  • liver
  • spleen
  • stomach
Pelvis:
  • penis
  • placenta
  • testicle
  • urinary bladder
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with GBE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GBE1 Gene

Orthologs for GBE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GBE1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GBE1 30 31
  • 99.62 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GBE1 31
  • 92 (a)
 OneToOne
LOC478380 30
  • 90.96 (n)
Cow
(Bos Taurus)
 Mammalia GBE1 30 31
  • 88.56 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gbe1 30 17 31
  • 86.8 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gbe1 30
  • 85.61 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia GBE1 31
  • 85 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GBE1 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GBE1 30 31
  • 76.44 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GBE1 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gbe1 30
  • 74.74 (n)
Zebrafish
(Danio rerio)
 Actinopterygii GBE1 (2 of 2) 31
  • 75 (a)
 OneToMany
LOC559212 30
  • 67.01 (n)
GBE1 (1 of 2) 31
  • 66 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010428 30
  • 58 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG33138 30 31
  • 56.77 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea CELE_T04A8.7 30
  • 57.44 (n)
T04A8.7 31
  • 56 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GLC3 30 31
  • 59.69 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A11176g 30
  • 58.31 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AEL044W 30
  • 56.18 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons SBE2.1 30
  • 59.72 (n)
Soybean
(Glycine max)
 eudicotyledons Gma.2119 30
Rice
(Oryza sativa)
 Liliopsida Os02g0528200 30
  • 59.77 (n)
Os.22169 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.7919 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.39 30
Corn
(Zea mays)
 Liliopsida Zm.226 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 63 (a)
 OneToMany
-- 31
  • 51 (a)
 OneToMany
-- 31
  • 48 (a)
 OneToMany
-- 31
  • 47 (a)
 OneToMany
-- 31
  • 47 (a)
 OneToMany
-- 31
  • 47 (a)
 OneToMany
-- 31
  • 46 (a)
 OneToMany
-- 31
  • 46 (a)
 OneToMany
-- 31
  • 46 (a)
 OneToMany
-- 31
  • 41 (a)
 OneToMany
Bread mold
(Neurospora crassa)
 Ascomycetes NCU05429 30
  • 58.26 (n)
Species where no ortholog for GBE1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GBE1 Gene

ENSEMBL:
Gene Tree for GBE1 (if available)
TreeFam:
Gene Tree for GBE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GBE1: view image

Paralogs for GBE1 Gene

Paralogs for GBE1 Gene

genes like me logo Genes that share paralogs with GBE1: view

Variants for GBE1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBE1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
2789 Pathogenic: Glycogen storage disease IV, combined hepatic and myopathic 81,761,479(-) G/GT FRAMESHIFT_VARIANT
639425 Likely Pathogenic: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 81,536,909(-) A/G SPLICE_DONOR_VARIANT
640895 Uncertain Significance: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 81,537,059(-) G/A MISSENSE_VARIANT
640979 Uncertain Significance: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 81,586,144(-) C/G MISSENSE_VARIANT
660636 Uncertain Significance: Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 81,642,868(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GBE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GBE1 Gene

Variant ID Type Subtype PubMed ID
dgv1386e212 CNV loss 25503493
dgv1387e212 CNV loss 25503493
dgv2552n106 CNV deletion 24896259
dgv8401n54 CNV loss 21841781
dgv8402n54 CNV loss 21841781
dgv8403n54 CNV loss 21841781
esv1005110 CNV loss 20482838
esv1008470 CNV deletion 20482838
esv1726256 CNV deletion 17803354
esv23507 CNV loss 19812545
esv2659520 CNV deletion 23128226
esv2668691 CNV deletion 23128226
esv2672095 CNV deletion 23128226
esv2675026 CNV deletion 23128226
esv2725581 CNV deletion 23290073
esv2835791 CNV deletion 24192839
esv3326 CNV loss 18987735
esv3562135 CNV deletion 23714750
esv3596748 CNV loss 21293372
esv3596749 CNV loss 21293372
esv3596750 CNV loss 21293372
esv3596751 CNV loss 21293372
esv3596753 CNV loss 21293372
esv3893729 CNV loss 25118596
esv995823 CNV deletion 20482838
nsv478164 CNV novel sequence insertion 20440878
nsv834749 CNV gain 17160897
nsv967032 CNV duplication 23825009

Variation tolerance for GBE1 Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.46; 92.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBE1 Gene

Human Gene Mutation Database (HGMD)
GBE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBE1 Gene

Disorders for GBE1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for GBE1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease iv
  • gsd4
polyglucosan body neuropathy, adult form
  • apbn
adult polyglucosan body disease
  • polyglucosan body neuropathy, adult form
glycogen storage disease
  • gsd
neurogenic bladder
  • neurogenic dysfunction of the urinary bladder
- elite association - COSMIC cancer census association via MalaCards
Search GBE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLGB_HUMAN
  • Glycogen storage disease 4 (GSD4) [MIM:232500]: A 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. {ECO:0000269 PubMed:10545044, ECO:0000269 PubMed:15452297, ECO:0000269 PubMed:8613547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=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. {ECO:0000269 PubMed:15452297}.
  • Polyglucosan body neuropathy, adult form (APBN) [MIM:263570]: A 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. {ECO:0000269 PubMed:10762170}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GBE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for GBE1 Gene

  1. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. (PMID: 8463281) Thon VJ … Cannon JF (The Journal of biological chemistry 1993) 2 3 4 23
  2. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). (PMID: 15452297) Bruno C … Minetti C (Neurology 2004) 3 4 23
  3. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. (PMID: 10762170) Ziemssen F … Vorgerd M (Annals of neurology 2000) 3 4 23
  4. A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. (PMID: 10545044) Bruno C … DiMauro S (Neuromuscular disorders : NMD 1999) 3 4 23
  5. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. (PMID: 8613547) Bao Y … Chen YT (The Journal of clinical investigation 1996) 3 4 23

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