G6PC3 R253H [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-3276572
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
G6PC3 R253H [endoplasmic reticulum membrane] icon
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

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
Gene Names
G6PC3, UGRP
Chain
chain:1-346
Reference Transcript
Other Identifiers
11717761_a_at
16834700
221759_PM_at
221759_at
3722740
3722741
3722742
3722745
3722746
3722747
3722750
3722751
3722752
3722753
44654_PM_at
44654_at
8007561
92579
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
Hs.294005.0.A1_3p_s_at
ILMN_2127477
PH_hs_0015285
PH_hs_0035764
TC17002222.hg
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 253 replaced with L-histidine
Coordinate
253
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Cross References
RefSeq
OpenTargets
IntEnz
GeneCards
PRO
Pharos - Targets
Orphanet
HMDB Protein
Cite Us!