Property Summary

NCBI Gene PubMed Count 42
Grant Count 3
Funding $70,706.85
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 0.017
Multiple myeloma 1.061 0.009
glioblastoma 2.400 0.002
astrocytoma 1.800 0.012
pancreatic ductal adenocarcinoma liver m... -1.463 0.008
breast carcinoma -1.300 0.008
fibroadenoma -1.700 0.026
subependymal giant cell astrocytoma 1.711 0.016
ductal carcinoma in situ -1.200 0.008
invasive ductal carcinoma -1.900 0.003
ovarian cancer -1.900 0.000

Synonym

Accession Q04446 B3KWV3 Q96EN0
Symbols GBE
APBD
GSD4

Gene

PANTHER Protein Class (2)

PDB

4BZY   5CLT   5CLW  

 IMPC Term (1)

 GWAS Trait (1)

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)
More...

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.
More...