Property Summary

NCBI Gene PubMed Count 42
PubMed Score 268.84
PubTator Score 102.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.162 1.7e-02
Multiple myeloma 1.061 8.5e-03
glioblastoma 2.400 2.2e-03
astrocytoma 1.800 1.2e-02
pancreatic ductal adenocarcinoma liver m... -1.463 8.0e-03
breast carcinoma -1.300 8.0e-03
fibroadenoma -1.700 2.6e-02
subependymal giant cell astrocytoma 1.711 1.6e-02
ductal carcinoma in situ -1.200 8.3e-03
invasive ductal carcinoma -1.900 2.9e-03
ovarian cancer -1.900 7.7e-06

 IMPC Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (21)

PMID Text
26670585 The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation.
26199317 The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated.
25665141 GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease
24248152 GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset.
23218673 Compound heterozygous mutations in GBE1 were identified as the cause of lethal multiple pterygium syndrome in a family.
23034915 APBD with GBE deficiency is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy.
22943850 this is the first epidemiologic study of the mutation frequency of the adult polyglucosan body disease -associated GBE1 mutation c.1076A>C in a large Ashkenazi Jewish cohort.
22305237 A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain.
20816195 Observational study of gene-disease association. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20300197 GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1)
20058079 Case Reports: novel missense/deletion mutations in GBE1 in glycogen storage disease type IV.
19913121 Observational study of gene-disease association. (HuGE Navigator)
18392749 Case Report: report an as yet undefined and different phenotype of glycogen storage disease with diminished branching enzyme activity associated with multisystemic involvement.
18289670 A c.1558delC frame shift mutation in exon 12 and a c.1999C>T mutation in exon 14 of the GBE1 gene were observed in a neonate with glycogen storage disease type IV.
17994551 brain white matter degeneration in APBD may result from tissue damage involving axons and myelin in GBE missense mutation
17915577 Mutations in the GBE1 gene, located on chromosome 3, have been identified in phenotypes of glycogenosis 4.
15452297 Nine novel GBE1 mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. Implications for protein structure and interactions were modeled.
14557872 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYKQFSQILKNIGENEGGIDKFS      1 - 70
RGYESFGVHRCADGGLYCKEWAPGAEGVFLTGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGS     71 - 140
KLKVVITSKSGEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIYESHVGISSHE    141 - 210
GKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELQELVDTAHSMG    211 - 280
IIVLLDVVHSHASKNSADGLNMFDGTDSCYFHSGPRGTHDLWDSRLFAYSSWEILRFLLSNIRWWLEEYR    281 - 350
FDGFRFDGVTSMLYHHHGVGQGFSGDYSEYFGLQVDEDALTYLMLANHLVHTLCPDSITIAEDVSGMPAL    351 - 420
CSPISQGGGGFDYRLAMAIPDKWIQLLKEFKDEDWNMGDIVYTLTNRRYLEKCIAYAESHDQALVGDKSL    421 - 490
AFWLMDAEMYTNMSVLTPFTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESY    491 - 560
HYARRQFHLTDDDLLRYKFLNNFDRDMNRLEERYGWLAAPQAYVSEKHEGNKIIAFERAGLLFIFNFHPS    561 - 630
KSYTDYRVGTALPGKFKIVLDSDAAEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDL    631 - 700
PN                                                                        701 - 702
//

Text Mined References (43)

PMID Year Title
26670585 2016 Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.
26199317 2015 Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
25665141 2015 Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
24837458 2014 The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein-protein interactions.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24248152 2014 Branching enzyme deficiency: expanding the clinical spectrum.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23218673 2013 Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
23034915 2012 Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
22943850 2012 The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
22305237 2012 Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
20816195 2010 Analyses of shared genetic factors between asthma and obesity in children.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20300197 2010 Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1.
20058079 2010 Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18392749 2008 Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.
18289670 2008 Placental involvement in glycogen storage disease type IV.
17994551 2008 Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
17915577 2007 Neuromuscular forms of glycogen branching enzyme deficiency.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16254601 2005 The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15452297 2004 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
15019703 2004 Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14557872 2003 Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10762170 2000 Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
10545044 1999 A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
10533307 1999 Glycogen storage disease type IV: a case report.
10384399 1999 Glycogen storage disease type IV presenting as hydrops fetalis.
9851430 1998 Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
8613547 1996 Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
8463281 1993 Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.
8059607 1994 Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.
6220706 1983 Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease.