RBCC Red Blood Cell Collection

ARGI1_HUMAN

Source: hRBCD ; ID: IPI00291560
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: ARG1
Protein names and data: ARGI1_HUMAN , Arginase-1; 3.5.3.1 , Liver-type arginase; Type I arginase Lenght: 322 a.a.
Mass: 34735 Da
fasta formatted sequence
Catalytic activity: L-arginine + H(2)O = L-ornithine + urea.
Pathway: Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.
Disease: ( OMIM: 207800 608313 ) Argininemia (ARGIN) [MIM:207800]: A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.

Genetic variants

11 - 11 I -> T (in ARGIN; 12% of wild-type activity; dbSNP:rs28941474). VAR_015594 28941474
138 - 138 G -> V (in ARGIN). VAR_015595
235 - 235 G -> R (in ARGIN). VAR_000674
290 - 290 T -> S. VAR_000675

Database cross-references

UniProt: P05089
Ensembl: ENST00000356962
Ensembl: ENST00000368087
Ensembl: ENST00000476845
MIM: 207800
MIM: 608313
neXtProt: NX_P05089
Antibodypedia: P05089 (may not find the protein thus also not any antibody)
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