| Type | Description |
|---|---|
| Definition | 1,4-alpha-glucan branching enzyme 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 12:44:00 | Data show a definitive role of GBE1 in the infiltration of T lymphocytes into lung adenocarcinoma sites. Its depletion can upregulate CCL5 and CXCL10 expression through STING signaling to activate IFN-I pathway, potentiate T cell infiltration, and cause induced expression of PD-L1 on tumor cells simultaneously. | 31221150 |
| 2017-08-19 10:38:00 | Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV. | 27107456 |
| 2016-07-16 11:36:00 | 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. | 26199317 |
| 2016-05-28 10:44:00 | The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation. | 26670585 |
| 2015-07-25 12:04:00 | GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease | 25665141 |
| Type | IDs |
|---|---|
| Synonymous | APBD, GBE, GSD4 |
| Gene |
UniProtKB-ID:
GLGB_HUMAN,
Q59ET0_HUMAN
UniprotKB:
Q04446,
Q59ET0
UniParc:
UPI0000209A24,
UPI00004F6DF3
EMBL:
BC012098,
AC017015,
AC099049,
AC025029,
L07956,
AK125918,
AB209731
Ensembl:
ENSG00000114480
KO:
hsa:2632
|
| Nucleutide sequences |
EMBL-CDS:
AAH12098.1,
BAG54265.1,
AAA58642.1,
BAD92968.1
Ensembl_TRS:
ENST00000429644
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000410833
RefSeq:
NP_000149.4
|
| Others |
UniRef100:
UniRef100_B4DNJ3,
UniRef100_Q04446
UniRef90:
UniRef90_B4DNJ3,
UniRef90_Q04446
UniRef50:
UniRef50_Q04446,
UniRef50_Q9D6Y9
UniGene:
Hs.436062
CCDS:
CCDS54612.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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