G6PC3 G260R

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
00010+3.1.3.9
0001050059
00052+3.1.3.9
00500+3.1.3.9
11717761_a_at
16834700
221759_at
3722740
3722741
3722742
3722745
3722746
3722747
3722750
3722751
3722752
3722753
44654_at
67052
8007561
92579
A_23_P55174
AAH02494
AAH21574
BC002494
BC021574
CCDS11476
CH471178
EAW51638
ENSG00000141349
ENSP00000269097
ENSP00000467624
ENST00000269097
ENST00000588558
EntrezGene:92579
G6PC3
G6PC3-201
GE87178
GO:0003674
GO:0004346
GO:0005575
GO:0005622
GO:0005623
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:0030176
GO:0043226
GO:0044281
GO:0051156
HGNC:24861
HPA067052
Hs.294005.0.A1_3p_s_at
ILMN_1806962
ILMN_2127477
IPR000326
IPR016275
IPR036938
K7ENK1
K7EQ13
K7ESE6
LRG_182
LRG_182t1
MIM:611045
MIM:612541
NM_001319945
NM_138387
NP_001306874
NP_612396
PF01569
PH_hs_0015285
PH_hs_0035764
SM00014
TC17000562.hg
TC17002222.hg
uc002iex.4
UPI00000734E8
XM_011525473
XM_011525474
XM_017025335
XP_011523775
XP_011523776
XP_016880824
Participant Of
Other forms of this molecule
Modified Residues
Name
glycine 260 replaced with L-arginine
Coordinate
260
PsiMod HEY
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
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein