InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FARS2

Summary

InnateDB Protein

IDBP-58936.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FARS2

Protein Name

phenylalanyl-tRNA synthetase 2, mitochondrial

Synonyms

COXPD14; dJ520B18.2; FARS1; HSPC320; PheRS;

Species

Homo sapiens

Ensembl Protein

ENSP00000274680

InnateDB Gene

IDBG-58934 (FARS2)

Protein Structure

UniProt Annotation

Function

Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. {ECO:0000269PubMed:19549855, ECO:0000269PubMed:22833457}.

Subcellular Localization

Mitochondrion matrix {ECO:0000305}.

Disease Associations

Combined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946]: A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. {ECO:0000269PubMed:22499341, ECO:0000269PubMed:22833457}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000049	tRNA binding
GO:0000166	nucleotide binding
GO:0000287	magnesium ion binding
GO:0004812	aminoacyl-tRNA ligase activity
GO:0004826	phenylalanine-tRNA ligase activity
GO:0005524	ATP binding

Biological Process

GO:0006418	tRNA aminoacylation for protein translation
GO:0006432	phenylalanyl-tRNA aminoacylation
GO:0008033	tRNA processing
GO:0010467	gene expression
GO:0043039	tRNA aminoacylation

Cellular Component

GO:0005737	cytoplasm
GO:0005759	mitochondrial matrix

Protein Structure and Domains

PDB ID

InterPro

IPR002319 Phenylalanyl-tRNA synthetase
IPR004530 Phenylalanyl-tRNA synthetase, class IIc, mitochondrial
IPR005121 Phenylalanine-tRNA ligase, beta subunit, ferrodoxin-fold anticodon-binding
IPR006195 Aminoacyl-tRNA synthetase, class II

PFAM

PF01409
PF03147

PRINTS

PIRSF

SMART

SM00896

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O95363