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Aliases for GBE1 Gene

Aliases for GBE1 Gene

  • Glucan (1,4-Alpha-), Branching Enzyme 1 2 3 5
  • Glycogen Branching Enzyme 2 3
  • Glycogen-Branching Enzyme 3 4
  • Brancher Enzyme 3 4
  • EC 2.4.1.18 4 63
  • Amylo-(1,4 To 1,6) Transglucosidase 3
  • Amylo-(1,4 To 1,6) Transglycosylase 3
  • Glycogen Storage Disease Type IV 2
  • Andersen Disease 2
  • APBD 3
  • GSD4 3
  • 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 (Glucan (1,4-Alpha-), Branching Enzyme 1) is a Protein Coding gene. Diseases associated with GBE1 include glycogen storage disease iv and polyglucosan body disease, adult form. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and 1,4-alpha-glucan branching enzyme activity.

UniProtKB/Swiss-Prot for GBE1 Gene

  • Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.

Gene Wiki entry for GBE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBE1 Gene

Genomics for GBE1 Gene

Regulatory Elements for GBE1 Gene

Promoters for GBE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GBE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GBE1 Gene

Chromosome:
3
Start:
81,489,699 bp from pter
End:
81,762,161 bp from pter
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 StructureGene Density

RefSeq DNA sequence for GBE1 Gene

Proteins for GBE1 Gene

  • 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

Proteomics data for GBE1 Gene at MOPED

Post-translational modifications for GBE1 Gene

  • Ubiquitination at Lys 39, Lys 162, Lys 217, Lys 442, Lys 472, and Lys 578
  • Modification sites at PhosphoSitePlus

Other Protein References for GBE1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for GBE1 Gene

Suggested Antigen Peptide Sequences for GBE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04446

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for GBE1 Gene

Function for GBE1 Gene

Molecular function for GBE1 Gene

GENATLAS Biochemistry:
amylo (1,4->1,6) trans-glucosidase,branching enzyme,glycogen catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a segment of a (1->4)-alpha-D-glucan chain to a primary hydroxy group in a similar glucan chain.
UniProtKB/Swiss-Prot Function:
Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.

Enzyme Numbers (IUBMB) for GBE1 Gene

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:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for GBE1 Gene

Localization for GBE1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBE1 Gene COMPARTMENTS Subcellular localization image for GBE1 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 3
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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

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 --
GO:0006006 glucose metabolic process 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

(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

Unigene Clusters for GBE1 Gene

Glucan (1,4-alpha-), branching enzyme 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for GBE1 Gene

GeneLoc Exon Structure for
GBE1
ECgene alternative splicing isoforms for
GBE1

Expression for GBE1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for GBE1 Gene



SOURCE GeneReport for Unigene cluster for GBE1 Gene Hs.436062

mRNA Expression by UniProt/SwissProt for GBE1 Gene

Q04446-GLGB_HUMAN
Tissue specificity: Highest levels found in liver and muscle.
genes like me logo Genes that share expression patterns with GBE1: view

Protein tissue co-expression partners for GBE1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 36
  • 100 (a)
OneToOne
GBE1 35
  • 99.62 (n)
  • 99.72 (a)
cow
(Bos Taurus)
Mammalia GBE1 36
  • 89 (a)
OneToOne
GBE1 35
  • 88.56 (n)
  • 90.31 (a)
dog
(Canis familiaris)
Mammalia LOC478380 35
  • 90.96 (n)
  • 92.25 (a)
GBE1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gbe1 16
Gbe1 36
  • 91 (a)
OneToOne
Gbe1 35
  • 86.8 (n)
  • 91.31 (a)
oppossum
(Monodelphis domestica)
Mammalia GBE1 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBE1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gbe1 35
  • 85.61 (n)
  • 91.17 (a)
chicken
(Gallus gallus)
Aves GBE1 35
  • 76.44 (n)
  • 77.86 (a)
GBE1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBE1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gbe1 35
  • 74.74 (n)
  • 77.84 (a)
zebrafish
(Danio rerio)
Actinopterygii GBE1 (1 of 2) 36
  • 66 (a)
OneToMany
GBE1 (2 of 2) 36
  • 75 (a)
OneToMany
LOC559212 35
  • 67.01 (n)
  • 74.11 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010428 35
  • 58 (n)
  • 61.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33138 36
  • 61 (a)
OneToOne
CG33138 35
  • 56.77 (n)
  • 61.89 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_T04A8.7 35
  • 57.44 (n)
  • 56.7 (a)
T04A8.7 36
  • 56 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL044W 35
  • 56.18 (n)
  • 59.2 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLC3 35
  • 59.69 (n)
  • 61.6 (a)
GLC3 36
  • 58 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11176g 35
  • 58.31 (n)
  • 61.19 (a)
soybean
(Glycine max)
eudicotyledons Gma.2119 35
thale cress
(Arabidopsis thaliana)
eudicotyledons SBE2.1 35
  • 59.72 (n)
  • 59.07 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.7919 35
corn
(Zea mays)
Liliopsida Zm.226 35
rice
(Oryza sativa)
Liliopsida Os.22169 35
Os02g0528200 35
  • 59.77 (n)
  • 58.76 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.39 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05429 35
  • 58.26 (n)
  • 62.91 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
Species with no ortholog for GBE1:
  • 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 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)

Paralogs for GBE1 Gene

No data available for Paralogs for GBE1 Gene

Variants for GBE1 Gene

Sequence variations from dbSNP and Humsavar for GBE1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs2229519 - 81,648,979(-) ATTCC(A/G/T)GACCA reference, missense
VAR_022429 Glycogen storage disease 4 (GSD4)
VAR_022430 Glycogen storage disease 4 (GSD4)
VAR_022431 Glycogen storage disease 4 (GSD4)
VAR_022432 Glycogen storage disease 4 (GSD4)

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

Variant ID Type Subtype PubMed ID
nsv877027 CNV Loss 21882294
esv2659520 CNV Deletion 23128226
esv1008470 CNV Deletion 20482838
esv2675026 CNV Deletion 23128226
esv995823 CNV Deletion 20482838
esv1005110 CNV Loss 20482838
esv23507 CNV Loss 19812545
nsv834749 CNV Gain 17160897
esv2668691 CNV Deletion 23128226
esv2672095 CNV Deletion 23128226
esv2725581 CNV Deletion 23290073
esv1726256 CNV Deletion 17803354
esv3326 CNV Deletion 18987735

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)

Relevant External Links for GBE1 Gene

HapMap Linkage Disequilibrium report
GBE1
Human Gene Mutation Database (HGMD)
GBE1

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

Disorders for GBE1 Gene

MalaCards: The human disease database

(25) MalaCards diseases for GBE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease iv
  • amylopectinosis
polyglucosan body disease, adult form
  • polyglucosan body neuropathy, adult form
adult polyglucosan body disease
  • polyglucosan body disease, adult form
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
  • gbe deficiency, childhood neuromuscular form
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
  • gbe deficiency, adult neuromuscular form
- 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.

Relevant External Links for GBE1

Genetic Association Database (GAD)
GBE1
Human Genome Epidemiology (HuGE) Navigator
GBE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GBE1
genes like me logo Genes that share disorders with GBE1: view

No data available for Genatlas for GBE1 Gene

Publications for GBE1 Gene

  1. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. (PMID: 8463281) Thon V.J. … Cannon J.F. (J. Biol. Chem. 1993) 2 3 4 23 67
  2. Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. (PMID: 20300197) Pescador N. … del Peso L. (PLoS ONE 2010) 3 23
  3. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. (PMID: 17994551) Massa R. … Federico A. (Muscle Nerve 2008) 3 23
  4. Placental involvement in glycogen storage disease type IV. (PMID: 18289670) Konstantinidou A.E. … Patsouris E. (Placenta 2008) 3 23
  5. Neuromuscular forms of glycogen branching enzyme deficiency. (PMID: 17915577) Bruno C. … Di Mauro S. (Acta Myol 2007) 3 23

Products for GBE1 Gene

Sources for GBE1 Gene

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