G6PC H119L [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-3274553
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
glucose-6-phosphatase, catalytic H119L, G-6-Pase H119L
Icon
G6PC H119L [endoplasmic reticulum membrane] icon
G6PC H119L [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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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, JY, Lee, CC, Tsai, CH, Tsai, FJ, Wu, MC

Hum. Mutat. 2000
External Reference Information
External Reference
UniProt:P35575 G6PC1
Gene Names
G6PC1, G6PC, G6PT
Chain
chain:1-357
Reference Genes
BioGPS Gene:2538 G6PC1
CTD Gene:2538 G6PC1
dbSNP Gene:2538 G6PC1
ENSEMBL:ENSG00000131482 G6PC
ENSEMBL_homo_sapiens_GENE:ENSG00000131482.10 G6PC1
HGNC:4056 G6PC1
KEGG Gene (Homo sapiens):2538 G6PC1
Monarch:2538 G6PC1
NCBI Gene:2538 G6PC1
OMIM:613742 G6PC1
UCSC:P35575 G6PC1
Reference Transcript
Other Identifiers
11736929_at
11736930_at
11751670_a_at
1555612_3p_s_at
1555612_PM_s_at
1555612_s_at
16834525
206952_PM_at
206952_at
2538
36241_r_at
3722249
3722250
3722251
3722256
3722257
3722260
3722261
3722262
3722263
3722264
3722266
3722267
8007429
A_23_P385017
GE58846
GO:0003824
GO:0004346
GO:0005515
GO:0005783
GO:0005789
GO:0005975
GO:0005977
GO:0005980
GO:0006091
GO:0006094
GO:0006629
GO:0006641
GO:0008202
GO:0010468
GO:0015760
GO:0016020
GO:0016740
GO:0016773
GO:0016787
GO:0035264
GO:0042301
GO:0042593
GO:0042632
GO:0043226
GO:0046415
GO:0051156
GO:1901135
HMNXSV003036571
ILMN_2079890
PH_hs_0025437
TC17000542.hg
U01120_at
g4557598_3p_at
Participates
as a member of
Other forms of this molecule
G6PC R170Q [endoplasmic reticulum membrane]
G6PC R83C [endoplasmic reticulum membrane]
G6PC [endoplasmic reticulum membrane]
Modified Residues
Name
L-histidine 119 replaced with L-leucine
Coordinate
119
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
Disease
Name Identifier Synonyms
glycogen storage disease I DOID: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
RefSeq
OpenTargets
GeneCards
HPA
ZINC - Substances
Ensembl
ZINC target
PRO
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (2)
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