G6PC3 G260R [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-3276581
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
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

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

J. Pediatr. 2012
External Reference Information
External Reference
Gene Names
G6PC3, UGRP
Chain
chain:1-346
Reference Transcript
Other Identifiers
0001050059
11717761_a_at
16834700
221759_at
3722740
3722741
3722742
3722745
3722746
3722747
3722750
3722751
3722752
3722753
44654_at
8007561
92579
A_23_P55174
GE87178
GO:0003674
GO:0004346
GO:0005575
GO:0005622
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006094
GO:0006796
GO:0006810
GO:0008150
GO:0009058
GO:0015760
GO:0016020
GO:0016021
GO:0016311
GO:0016787
GO:0016791
GO:0043226
GO:0044281
GO:0051156
Hs.294005.0.A1_3p_s_at
ILMN_1806962
ILMN_2127477
PH_hs_0015285
PH_hs_0035764
TC17000562.hg
TC17002222.hg
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 260 replaced with L-arginine
Coordinate
260
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-arginine.
A protein modification that effectively removes or replaces an glycine.
Disease
Name Identifier Synonyms
severe congenital neutropenia 0050590
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein
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