ARG1 T134I [cytosol]

Stable Identifier
R-HSA-9959627
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
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 candidate of
Other forms of this molecule
ARG1 [cytosol]
ARG1 [azurophil granule lumen]
ARG1 [extracellular region]
ARG1 [specific granule lumen]
ARG1 G235R [cytosol]
ARG1 W122* [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
L-threonine 134 replaced with L-isoleucine
Coordinate
134
PsiMod
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
L-isoleucine residue [MOD:00019]
A protein modification that effectively converts a source amino acid residue to an L-isoleucine.
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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