G6PC3 G260R [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-3276581
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Icon
G6PC3 G260R [endoplasmic reticulum membrane] icon
G6PC3 G260R [endoplasmic reticulum membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
22050868 Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

Buchanan, GR, Klein, C, Curtin, J, Fruge, R, Parvaneh, N, Innis, JW, Dorda, M, Mody, R, Moulton, T, Newman, WG, Darbyshire, P, Corns, J, Boztug, K, Welte, K, Donadieu, J, Rezaei, N, Rosenberg, PS, Pierani, P, Tran, HC, Avci, Z, Mamishi, S, Motwani, J, Alter, BP, Boxer, LA, Murray, J, Pellier, I, Banka, S

J. Pediatr. 2012
External Reference Information
External Reference
UniProt:Q9BUM1 G6PC3
Gene Names
G6PC3, UGRP
Chain
chain:1-346
Reference Genes
BioGPS Gene:92579 G6PC3
COSMIC (genes):G6PC3 G6PC3
CTD Gene:92579 G6PC3
dbSNP Gene:92579 G6PC3
ENSEMBL:ENSG00000141349 G6PC3
HGNC:24861 G6PC3
KEGG:hsa:92579 G6PC3
Monarch:92579 G6PC3
NCBI Gene:92579 G6PC3
OMIM:611045 G6PC3
UCSC:Q9BUM1 G6PC3
Reference Transcript
Other Identifiers
11717761_a_at
16834700
221759_PM_at
221759_at
3722740
3722741
3722742
3722743
3722744
3722745
3722746
3722747
3722748
3722749
3722750
3722751
3722752
3722753
3722755
3722757
3722759
44654_PM_at
44654_at
8007561
92579
A_14_P125223
A_14_P128900
A_23_P55174
GE87178
GO:0003824
GO:0004346
GO:0005783
GO:0005789
GO:0005975
GO:0006094
GO:0015760
GO:0016020
GO:0016787
GO:0043226
GO:0051156
GO:1901135
HMNXSV003029102
HMNXSV003052032
Hs.294005.0.A1_3p_s_at
ILMN_2127477
PH_hs_0015285
PH_hs_0035764
TC17000562.hg
TC17002222.hg
Participates
as a member of
Other forms of this molecule
G6PC3 R253H [endoplasmic reticulum membrane]
G6PC3 [endoplasmic reticulum membrane]
Modified Residues
Name
glycine 260 replaced with L-arginine
Coordinate
260
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Cross References
ENSEMBL
OpenTargets
IntEnz
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
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