GBE1 R515C

Stable Identifier
R-HSA-3878775
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
glycogen branching enzyme R515C, 1,4-alpha-glucan branching enzyme R515C, Brancher enzyme R515C
Locations in the PathwayBrowser
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.

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

J Clin Invest 1996
External Reference Information
External Reference
Gene Names
GBE1
Chain
initiator methionine:1, chain:2-702
Reference Transcript
Other Identifiers
0003060309
00500+2.4.1.18
11720049_a_at
16956448
203282_at
2632
2684208
2684209
2684213
2684230
2684231
2684237
2684238
2684239
2684240
2684242
2684244
2684245
2684257
2684258
2684259
2684260
2684261
2684266
2684271
2684290
2684291
32643_at
38073
38074
38075
4BZY
5CLT
5CLW
8088958
A_23_P121082
AAA58642
AAH12098
AC017015
AC025029
AC099049
AK125918
BAG54265
BC012098
CCDS54612
E9PGM4
ENSG00000114480
ENSP00000410833
ENST00000429644
EntrezGene:2632
g4557618_3p_at
GBE1
GBE1-201
GE57588
GO:0003674
GO:0003824
GO:0003844
GO:0004553
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005829
GO:0005975
GO:0005977
GO:0005978
GO:0006091
GO:0008150
GO:0009058
GO:0016740
GO:0016757
GO:0016798
GO:0043167
GO:0043169
GO:0043226
GO:0070062
GO:0102752
HGNC:4180
HPA038073
HPA038074
HPA038075
ILMN_1789702
IPR004193
IPR006047
IPR006048
IPR013783
IPR014756
IPR017853
IPR037439
L07956
L07956_at
MIM:232500
MIM:263570
MIM:607839
NM_000158
NP_000149
PF00128
PF02806
PF02922
PH_hs_0026700
SM00642
TC03001575.hg
uc062lqz.1
UPI0000209A24
Participant Of
Other forms of this molecule
Modified Residues
Name
L-arginine 515 replaced with L-cysteine
Coordinate
515
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
glycogen storage disease IV 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
RefSeq
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
PDB