G6PC H119L

Stable Identifier
R-HSA-3274553
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
glucose-6-phosphatase, catalytic H119L, G-6-Pase H119L
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
11058910 A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

Wu, MC, Tsai, FJ, Lee, CC, Tsai, CH, Wu, JY

Hum. Mutat. 2000
External Reference Information
External Reference
Gene Names
G6PC, G6PT
Chain
chain:1-357
Other Identifiers
00010+3.1.3.9
00052+3.1.3.9
00500+3.1.3.9
11736929_at
11736930_at
11751670_a_at
1555612_3p_s_at
1555612_s_at
16834525
206952_at
2538
36241_r_at
3722249
3722250
3722251
3722256
3722257
3722260
3722261
3722262
52324
8007429
A_23_P385017
AAA16222
AAI30479
AAI36370
AC016889
AK303771
AK313982
BAG36695
BAG64735
BC130478
BC136369
CCDS11446
CCDS59291
ENSG00000131482
ENSP00000253801
ENSP00000465958
ENST00000253801
ENST00000592383
EntrezGene:2538
g4557598_3p_at
G6PC
G6PC-201
G6PC-204
GE58846
GO:0003674
GO:0004346
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0005977
GO:0005980
GO:0006091
GO:0006094
GO:0006629
GO:0006641
GO:0006796
GO:0006810
GO:0008150
GO:0008202
GO:0009056
GO:0009058
GO:0010468
GO:0015760
GO:0016020
GO:0016021
GO:0016773
GO:0016787
GO:0016791
GO:0030176
GO:0032094
GO:0034641
GO:0035264
GO:0040007
GO:0042301
GO:0042592
GO:0042593
GO:0042632
GO:0043167
GO:0043226
GO:0043231
GO:0044281
GO:0046415
GO:0046838
GO:0051156
GO:0055088
HGNC:4056
HPA052324
ILMN_2079890
IPR000326
IPR016275
IPR036938
K7ELS6
LRG_147
MIM:232200
MIM:613742
NM_000151
NM_001270397
NP_000142
NP_001257326
PF01569
PH_hs_0025437
SM00014
TC17000542.hg
U01120
U01120_at
uc002icb.3
uc010whf.3
UPI000013CDF5
UPI00026B6FEC
Participant Of
Other forms of this molecule
Modified Residues
Name
L-histidine 119 replaced with L-leucine
Coordinate
119
PsiMod HEY
A protein modification that effectively removes or replaces an L-histidine.
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
glycogen storage disease I 2749 deficiency of glucose-6-phosphatase, glycogenosis type I, von Gierke's disease, glycogen storage disease type I, Glycogen storage disease, type I (disorder), von Gierke disease
Cross References
ZINC - Substances
GeneCards
ZINC target
PRO
BRENDA (Homo sapiens)
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein