SYAC_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
AARS
Protein names and data:
SYAC_HUMAN
, Alanine--tRNA ligase, cytoplasmic; 6.1.1.7
, Alanyl-tRNA synthetase; AlaRS; Renal carcinoma antigen NY-REN-42
Lenght: 968 a.a.
Mass: 106810 Da
fasta formatted sequence
Function:
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (By similarity).
Catalytic activity:
ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala).
Disease:
( OMIM:
601065
613287
)
Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm (By similarity).
Genetic variants
71 - 71
N -> Y (in CMT2N). VAR_067084
275 - 275
G -> D (in dbSNP:rs11537667). VAR_028204
11537667
329 - 329
R -> H (in CMT2N; severely reduces enzyme activity). VAR_063527
Database cross-references
UniProt:
P49588
Ensembl:
ENST00000261772
MIM:
601065
MIM:
613287
neXtProt:
NX_P49588
Antibodypedia:
P49588
(may not find the protein thus also not any antibody)
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