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
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
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
ENSG00000114480
ENSP00000410833
ENST00000429644
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:0030246
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
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
DOCK Blaster
PRO
BRENDA (Homo sapiens)
Orphanet
PDB