G6PC H119L [endoplasmic reticulum membrane]

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
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
3722263
3722264
3722266
3722267
8007429
A_23_P385017
GE58846
GO:0003674
GO:0004346
GO:0005575
GO:0005622
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:0009743
GO:0010468
GO:0015760
GO:0016020
GO:0016021
GO:0016773
GO:0016787
GO:0016791
GO:0030176
GO:0032094
GO:0032868
GO:0032869
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
GO:1904638
ILMN_2079890
PH_hs_0025437
TC17000542.hg
U01120_at
g4557598_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-histidine 119 replaced with L-leucine
Coordinate
119
PsiMod
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
OpenTargets
IntEnz
GeneCards
ZINC - Substances
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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