AlphaFold predicted structure
ARG1 · P05089
Mean pLDDT
97.0/ 100
Very high
322 residues
Confidence breakdown
- Very high(≥ 90)96%
- Confident(70–90)3%
- Low(50–70)1%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ARG1
Chr 6q23.2arginase 1
- MANE:
- ENST00000368087.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Argininemia
0.80arginase deficiency
0.78type 2 diabetes mellitus
0.44hereditary disease
0.41obesity disorder
0.35metabolic syndrome
0.33Abnormality of the skeletal system
0.32cervical carcinoma
0.26diabetes mellitus
0.13neoplasm
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Arginase-1
Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys