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Literature summary for 6.1.1.7 extracted from

  • Goetz, A.; Tyynismaa, H.; Euro, L.; Ellonen, P.; Hyoetylaeinen, T.; Ojala, T.; Haemaelaeinen, R.H.; Tommiska, J.; Raivio, T.; Oresic, M.; Karikoski, R.; Tammela, O.; Simola, K.O.; Paetau, A.; Tyni, T.; Suomalainen, A.
    Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy (2011), Am. J. Hum. Genet., 88, 635-642.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
expressed in HEK-293T cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
L155R the mutation is associated with infantile mitochondrial cardiomyopathy Homo sapiens
R592W the mutation is associated with infantile mitochondrial cardiomyopathy Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + L-alanine + tRNAAla Homo sapiens
-
 AMP + diphosphate + L-alanyl-tRNAAla
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q5JTZ9
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + L-alanine + tRNAAla
-
 Homo sapiens AMP + diphosphate + L-alanyl-tRNAAla
-
 ?

Synonyms

Synonyms Comment Organism
AARS2
-
 Homo sapiens
Alanyl-tRNA synthetase
-
 Homo sapiens
AlaRS
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme mutations are associated with infantile mitochondrial cardiomyopathy Homo sapiens