GBE1 F257L [cytosol]

Stable Identifier
R-HSA-3878767
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
glycogen branching enzyme F257L, 1,4-alpha-glucan branching enzyme F257L, Brancher enzyme F257L
Icon
GBE1 F257L [cytosol] icon
GBE1 F257L [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
8613547 Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Wu, JY, Chen, Y-T, Kishnani, P, Bao, Y

J Clin Invest 1996
External Reference Information
External Reference
UniProt:Q04446 GBE1
Gene Names
GBE1
Chain
initiator methionine:, chain:2-702
Reference Genes
BioGPS Gene:2632 GBE1
COSMIC (genes):GBE1 GBE1
CTD Gene:2632 GBE1
dbSNP Gene:2632 GBE1
ENSEMBL:ENSG00000114480 GBE1
HGNC:4180 GBE1
KEGG:hsa:2632 GBE1
Monarch:2632 GBE1
NCBI Gene:2632 GBE1
OMIM:607839 GBE1
UCSC:Q04446 GBE1
Reference Transcript
Other Identifiers
11720049_a_at
16956448
203282_PM_at
203282_at
2632
2684208
2684209
2684213
2684228
2684229
2684230
2684231
2684237
2684238
2684239
2684240
2684242
2684244
2684245
2684255
2684256
2684257
2684258
2684259
2684260
2684261
2684262
2684266
2684271
2684290
2684291
32643_at
8088958
A_23_P121082
GE57588
GO:0003824
GO:0003844
GO:0004553
GO:0005515
GO:0005737
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0016740
GO:0016757
GO:0016787
GO:0030246
GO:0043169
GO:0043226
GO:0043524
GO:0070062
HMNXSV003002496
ILMN_1789702
L07956_at
PH_hs_0026700
TC03001575.hg
g4557618_3p_at
Participates
as a member of
Other forms of this molecule
GBE1 R515C [cytosol]
GBE1 [cytosol]
Modified Residues
Name
L-phenylalanine 257 replaced with L-leucine
Coordinate
257
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-phenylalanine removal [MOD:01644]
A protein modification that effectively removes or replaces an L-phenylalanine.
Disease
Name Identifier Synonyms
glycogen storage disease IV DOID:2750 deficiency of 1,4-alpha-glucan branching enzyme, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Amylopectinosis, Glycogen storage disease, type IV (disorder)
Cross References
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
PDB
Interactors (4)
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