ARG1 G235R [cytosol]

Stable Identifier
R-HSA-9959604
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
arginase 1, liver-type arginase, Arginase 1
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
23859858 Five novel mutations in ARG1 gene in Chinese patients of argininemia

Wu, TF, Liu, YP, Li, XY, Wang, Q, Ding, Y, Ma, YY, Song, JQ, Yang, YL

Pediatr Neurol 2013
1463019 Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia

Uchino, T, Haraguchi, Y, Aparicio, JM, Mizutani, N, Higashikawa, M, Naitoh, H, Mori, M, Matsuda, I

Am J Hum Genet 1992
22959135 Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes

Carvalho, DR, Brand, GD, Brum, JM, Takata, RI, Speck-Martins, CE, Pratesi, R

Gene 2012
External Reference Information
External Reference
UniProt:P05089 ARG1
Gene Names
ARG1
Chain
chain:1-322
Reference Genes
BioGPS Gene:383 ARG1
COSMIC - genes:ARG1 ARG1
CTD Gene:383 ARG1
dbSNP Gene:383 ARG1
ENSEMBL:ENSG00000118520 ARG1
HGNC:663 ARG1
KEGG:hsa:383 ARG1
Monarch:383 ARG1
NCBI Gene:383 ARG1
OMIM:608313 ARG1
UCSC:P05089 ARG1
Reference Transcript
Other Identifiers
11754669_a_at
17012582
1962_at
206177_PM_s_at
206177_s_at
2925842
2925843
2925844
2925846
2925848
2925849
2925850
2925851
2925853
2925854
2925856
2925857
2925858
2925859
2925860
2925861
383
78251_at
8122058
A_14_P130107
A_23_P111321
A_33_P3319967
A_33_P3352382
GE59705
GO:0000050
GO:0002250
GO:0002376
GO:0004053
GO:0005515
GO:0005576
GO:0005615
GO:0005634
GO:0005737
GO:0005829
GO:0006520
GO:0006525
GO:0006527
GO:0009624
GO:0016787
GO:0016813
GO:0030145
GO:0035578
GO:0035580
GO:0042127
GO:0042130
GO:0042832
GO:0045087
GO:0046007
GO:0046872
GO:0060336
GO:0070965
GO:0071941
GO:0098542
GO:2000552
HMNXSV003024020
ILMN_1812281
PH_hs_0025817
TC06000983.hg
X12662_rna1_at
g10947138_3p_s_at
Participates
as a member of
as a candidate of
Other forms of this molecule
ARG1 [cytosol]
ARG1 [azurophil granule lumen]
ARG1 [extracellular region]
ARG1 [specific granule lumen]
ARG1 W122* [cytosol]
ARG1 T134I [cytosol]
ARG1 R291* [cytosol]
ARG1 R21* [cytosol]
ARG1 R180T [cytosol]
ARG1 T290S [cytosol]
ARG1 A125V [cytosol]
ARG1 G27D [cytosol]
ARG1 G138V [cytosol]
ARG1 I11T [cytosol]
ARG1 G74V [cytosol]
ARG1 R308Q [cytosol]
Modified Residues
Name
glycine 235 replaced with L-arginine
Coordinate
235
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
Name Identifier Synonyms
hyperargininemia DOID:9278 deficiency of canavanase, argininemia, Arginase deficiency
Cross References
RefSeq
Guide to Pharmacology - Targets
ClinGen
ENSEMBL
OpenTargets
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
GeneCards
HPA
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (2)
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