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G6PC R83C [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-3274529
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
glucose-6-phosphatase, catalytic R83C, G-6-Pase R83C
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Glycogen storage diseases (Homo sapiens)
Glycogen storage disease type Ia (G6PC) (Homo sapiens)
Defective G6PC does not hydrolyze glucose 6-phosphate (Homo sapiens)
G6PC mutants [endoplasmic reticulum membrane] (Homo sapiens)
G6PC R83C [endoplasmic reticulum membrane] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
8211187
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
Chou, JY
,
Sidbury, JB
,
Lei, K-J
,
Pan, CJ
,
Shelly, LL
Science
1993
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
RefSeq:NM_001270397.1 G6PC1
RefSeq:NM_000151.3 G6PC1
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
G6PC mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
G6PC R170Q [endoplasmic reticulum membrane]
G6PC H119L [endoplasmic reticulum membrane]
G6PC [endoplasmic reticulum membrane]
Modified Residues
Name
L-arginine 83 replaced with L-cysteine
Coordinate
83
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
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
NP_001257326.1
,
NP_000142.2
OpenTargets
ENSG00000131482
GeneCards
P35575
HPA
ENSG00000131482-G6PC1
ZINC - Substances
G6PC_HUMAN
Ensembl
ENSG00000131482
,
ENST00000592383
,
ENSP00000465958
,
ENST00000253801
,
ENSP00000253801
ZINC target
P35575
PRO
P35575
Pharos - Targets
P35575
Orphanet
16086
ZINC - Predictions - Purchasable
G6PC_HUMAN
HMDB Protein
HMDBP00376
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:O76024 WFS1
3
WFS1 [endoplasmic reticulum lumen]
(R-HSA-8956747)
p-WFS1 [endoplasmic reticulum lumen]
(R-HSA-8956998)
WFS1 [endoplasmic reticulum membrane]
(R-HSA-535474)
0.556
3
UniProt:Q9Y3C5 RNF11
0.556
3
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