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Entry version 190 (29 Sep 2021)
Sequence version 1 (01 May 1999)
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Protein

Phenylalanine--tRNA ligase, mitochondrial

Gene

FARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 2.8 min(-1), 2.0 min(-1) and 3.1 min(-1) with L-phenylalanine, L-tyrosine and m-tyrosine as substrate, respectively. Thus, the catalytic efficiency of the m-Tyr attachment is only 5-fold lower than that of the correct amino acid, while that of Tyr attachment is 1000-fold lower (PubMed:19549855).1 Publication
  1. KM=2.2 µM for L-phenylalanine2 Publications
  2. KM=1900 µM for L-tyrosine2 Publications
  3. KM=11.7 µM for DL-m-tyrosine2 Publications
  4. KM=7.3 µM for L-phenylalanine2 Publications
  5. KM=2.9 mM for ATP2 Publications
  6. KM=1.2 µM for tRNA(Phe)2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei179Substrate2 Publications1
Binding sitei287Substrate; via carbonyl oxygen2 Publications1
Binding sitei312Substrate; via carbonyl oxygen2 Publications1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAminoacyl-tRNA synthetase, Ligase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.1.1.20, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
O95363

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-379726, Mitochondrial tRNA aminoacylation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Phenylalanine--tRNA ligase, mitochondrial (EC:6.1.1.202 Publications)
Alternative name(s):
Phenylalanyl-tRNA synthetase
Short name:
PheRS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FARS2
Synonyms:FARS1
ORF Names:HSPC320
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:21062, FARS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611592, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O95363

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000145982

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 14 (COXPD14)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069487144Y → C in COXPD14; results in decreased affinity for tRNA causing a decrease in the catalytic efficiency for tRNA charging; does not affect ATP or Phe binding. 2 PublicationsCorresponds to variant dbSNP:rs397514610EnsemblClinVar.1
Natural variantiVAR_069488329I → T in COXPD14; results in a 4-fold decrease in the catalytic efficiency of amino acid activation mainly due to a decreased affinity for ATP; does not affect Phe binding; affects the stability of the enzyme, leading to a significant decrease in overall charging capacity. 1 PublicationCorresponds to variant dbSNP:rs397514611EnsemblClinVar.1
Natural variantiVAR_069489391D → V in COXPD14; results in a decrease in affinity for Phe causing a decrease in aminoacylation activity; affects the stability of the enzyme, leading to a significant decrease in overall charging capacity. 1 PublicationCorresponds to variant dbSNP:rs397514612EnsemblClinVar.1
Spastic paraplegia 77, autosomal recessive (SPG77)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077044142D → Y in SPG77; resulted in severely impaired phenylalanine-tRNA ligase activity. 1 PublicationCorresponds to variant dbSNP:rs145555213EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Hereditary spastic paraplegia, Neurodegeneration, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
10667

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
FARS2

MalaCards human disease database

More...
MalaCardsi
FARS2
MIMi614946, phenotype
617046, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000145982

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
466722, Autosomal recessive spastic paraplegia type 77
319519, Combined oxidative phosphorylation defect type 14

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134954893

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O95363, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2511

Drug and drug target database

More...
DrugBanki
DB00120, Phenylalanine

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FARS2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – ?MitochondrionSequence analysis
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000035813? – 451Phenylalanine--tRNA ligase, mitochondrial

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei202N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O95363

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95363

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95363

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95363

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95363

PeptideAtlas

More...
PeptideAtlasi
O95363

PRoteomics IDEntifications database

More...
PRIDEi
O95363

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
50824

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95363

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O95363

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000145982, Expressed in epithelium of bronchus and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95363, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95363, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000145982, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

O95363
With#Exp.IntAct
ADAMTSL4 - isoform 3 [Q6UY14-3]3EBI-2513774,EBI-10173507
AGTRAP [Q6RW13]3EBI-2513774,EBI-741181
AGTRAP - isoform 2 [Q6RW13-2]3EBI-2513774,EBI-11522760
AJUBA [Q96IF1]3EBI-2513774,EBI-949782
AP1B1 - isoform C [Q10567-3]3EBI-2513774,EBI-11978055
APPL1 [Q9UKG1]9EBI-2513774,EBI-741243
BACH2 [Q9BYV9]3EBI-2513774,EBI-1642333
BAG4 [O95429]3EBI-2513774,EBI-2949658
BANP - isoform 2 [Q8N9N5-2]4EBI-2513774,EBI-11524452
BEX5 [Q5H9J7]3EBI-2513774,EBI-10243741
CALCOCO2 [Q13137]7EBI-2513774,EBI-739580
CBY2 - isoform 2 [Q8NA61-2]3EBI-2513774,EBI-11524851
CCDC152 [Q4G0S7]3EBI-2513774,EBI-18398007
CDCA4 [Q9BXL8]3EBI-2513774,EBI-1773949
CMTM5 [Q96DZ9]3EBI-2513774,EBI-2548702
CMTM5 - isoform 2 [Q96DZ9-2]3EBI-2513774,EBI-11522780
CYSRT1 [A8MQ03]3EBI-2513774,EBI-3867333
DGAT2L6 [Q6ZPD8]3EBI-2513774,EBI-12831978
DPH2 [Q9BQC3]3EBI-2513774,EBI-10237931
DVL3 [Q92997]3EBI-2513774,EBI-739789
FHL5 [Q5TD97]3EBI-2513774,EBI-750641
FKBP7 [Q9Y680]3EBI-2513774,EBI-3918971
FSD2 [A1L4K1]3EBI-2513774,EBI-5661036
GRB10 - isoform 4 [Q13322-4]3EBI-2513774,EBI-12353035
HIGD1C [A8MV81]3EBI-2513774,EBI-12809676
HMBOX1 [Q6NT76]3EBI-2513774,EBI-2549423
IKZF3 [Q9UKT9]6EBI-2513774,EBI-747204
ISY1 - isoform 2 [Q9ULR0-1]3EBI-2513774,EBI-18398632
KCNF1 [Q9H3M0]3EBI-2513774,EBI-6918743
KCTD17 [Q8N5Z5]3EBI-2513774,EBI-743960
KRT13 [A1A4E9]3EBI-2513774,EBI-10171552
KRT31 [Q15323]3EBI-2513774,EBI-948001
KRT34 [O76011]3EBI-2513774,EBI-1047093
KRT40 [Q6A162]6EBI-2513774,EBI-10171697
KRTAP1-1 [Q07627]3EBI-2513774,EBI-11959885
KRTAP10-5 [P60370]3EBI-2513774,EBI-10172150
KRTAP10-7 [P60409]6EBI-2513774,EBI-10172290
KRTAP10-8 [P60410]3EBI-2513774,EBI-10171774
KRTAP10-9 [P60411]6EBI-2513774,EBI-10172052
KRTAP3-3 [Q9BYR6]3EBI-2513774,EBI-3957694
MAN1C1 [Q9NR34]3EBI-2513774,EBI-7260764
MDFI [Q99750]3EBI-2513774,EBI-724076
MESD [Q14696]3EBI-2513774,EBI-6165891
MID2 - isoform 2 [Q9UJV3-2]6EBI-2513774,EBI-10172526
MKRN3 [Q13064]3EBI-2513774,EBI-2340269
MORN3 [Q6PF18]3EBI-2513774,EBI-9675802
NFKBID [Q8NI38]3EBI-2513774,EBI-10271199
NOTCH2NLA [Q7Z3S9]3EBI-2513774,EBI-945833
PCSK5 - isoform PC6A [Q92824-2]3EBI-2513774,EBI-11956269
PPP1R16B [Q96T49]3EBI-2513774,EBI-10293968
RCBTB2 [O95199]6EBI-2513774,EBI-742404
RIMBP3 [Q9UFD9]3EBI-2513774,EBI-10182375
SPRY1 [O43609]3EBI-2513774,EBI-3866665
STX11 [O75558]3EBI-2513774,EBI-714135
SYP [P08247]3EBI-2513774,EBI-9071725
TADA2A [O75478]3EBI-2513774,EBI-742268
TEPSIN [Q96N21]3EBI-2513774,EBI-11139477
TFCP2 [Q12800]3EBI-2513774,EBI-717422
TPM2 - isoform 2 [P07951-2]3EBI-2513774,EBI-10977815
TRAF2 [Q12933]3EBI-2513774,EBI-355744
TRIM27 [P14373]3EBI-2513774,EBI-719493
TRIM54 [Q9BYV2]3EBI-2513774,EBI-2130429
TRIP6 [Q15654]3EBI-2513774,EBI-742327
YIF1A [O95070]3EBI-2513774,EBI-2799703
ZNF438 [Q7Z4V0]3EBI-2513774,EBI-11962468
ZNF500 [O60304]3EBI-2513774,EBI-18234077
ZNF526 [Q8TF50]3EBI-2513774,EBI-11035148
ZNF655 [Q8N720]3EBI-2513774,EBI-625509
ZRANB1 [Q9UGI0]3EBI-2513774,EBI-527853

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115909, 103 interactors

Protein interaction database and analysis system

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IntActi
O95363, 89 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000316335

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O95363

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O95363, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1451
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O95363

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O95363

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini358 – 450FDX-ACBPROSITE-ProRule annotationAdd BLAST93

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni157 – 160Substrate binding4
Regioni186 – 188Substrate binding3
Regioni193 – 195Substrate binding3

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2783, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158071

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_022696_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95363

Identification of Orthologs from Complete Genome Data

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OMAi
SKSDTYY

Database of Orthologous Groups

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OrthoDBi
1115196at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95363

TreeFam database of animal gene trees

More...
TreeFami
TF105798

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.70.380, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006195, aa-tRNA-synth_II
IPR005121, Fdx_antiC-bd
IPR036690, Fdx_antiC-bd_sf
IPR004530, Phe-tRNA-synth_IIc_mito
IPR002319, Phenylalanyl-tRNA_Synthase

The PANTHER Classification System

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PANTHERi
PTHR11538:SF41, PTHR11538:SF41, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03147, FDX-ACB, 1 hit
PF01409, tRNA-synt_2d, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00896, FDX-ACB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54991, SSF54991, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00469, pheS_mito, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50862, AA_TRNA_LIGASE_II, 1 hit
PS51447, FDX_ACB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

O95363-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVGSALRRGA HAYVYLVSKA SHISRGHQHQ AWGSRPPAAE CATQRAPGSV
60 70 80 90 100
VELLGKSYPQ DDHSNLTRKV LTRVGRNLHN QQHHPLWLIK ERVKEHFYKQ
110 120 130 140 150
YVGRFGTPLF SVYDNLSPVV TTWQNFDSLL IPADHPSRKK GDNYYLNRTH
160 170 180 190 200
MLRAHTSAHQ WDLLHAGLDA FLVVGDVYRR DQIDSQHYPI FHQLEAVRLF
210 220 230 240 250
SKHELFAGIK DGESLQLFEQ SSRSAHKQET HTMEAVKLVE FDLKQTLTRL
260 270 280 290 300
MAHLFGDELE IRWVDCYFPF THPSFEMEIN FHGEWLEVLG CGVMEQQLVN
310 320 330 340 350
SAGAQDRIGW AFGLGLERLA MILYDIPDIR LFWCEDERFL KQFCVSNINQ
360 370 380 390 400
KVKFQPLSKY PAVINDISFW LPSENYAEND FYDLVRTIGG DLVEKVDLID
410 420 430 440 450
KFVHPKTHKT SHCYRITYRH MERTLSQREV RHIHQALQEA AVQLLGVEGR

F
Length:451
Mass (Da):52,357
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1E5CC647A4A7193B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITR6A0A3B3ITR6_HUMAN
Phenylalanyl-tRNA synthetase
FARS2
433Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JRF7Q5JRF7_HUMAN
Phenylalanine--tRNA ligase
FARS2
101Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
R4GMX6R4GMX6_HUMAN
Phenylalanine--tRNA ligase, mitocho...
FARS2
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF28998 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti158A → T in BAD97143 (Ref. 4) Curated1
Sequence conflicti361P → T in AAF28998 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05264257S → C. Corresponds to variant dbSNP:rs34382405EnsemblClinVar.1
Natural variantiVAR_077044142D → Y in SPG77; resulted in severely impaired phenylalanine-tRNA ligase activity. 1 PublicationCorresponds to variant dbSNP:rs145555213EnsemblClinVar.1
Natural variantiVAR_069487144Y → C in COXPD14; results in decreased affinity for tRNA causing a decrease in the catalytic efficiency for tRNA charging; does not affect ATP or Phe binding. 2 PublicationsCorresponds to variant dbSNP:rs397514610EnsemblClinVar.1
Natural variantiVAR_052643280N → S3 PublicationsCorresponds to variant dbSNP:rs11243011EnsemblClinVar.1
Natural variantiVAR_069488329I → T in COXPD14; results in a 4-fold decrease in the catalytic efficiency of amino acid activation mainly due to a decreased affinity for ATP; does not affect Phe binding; affects the stability of the enzyme, leading to a significant decrease in overall charging capacity. 1 PublicationCorresponds to variant dbSNP:rs397514611EnsemblClinVar.1
Natural variantiVAR_069489391D → V in COXPD14; results in a decrease in affinity for Phe causing a decrease in aminoacylation activity; affects the stability of the enzyme, leading to a significant decrease in overall charging capacity. 1 PublicationCorresponds to variant dbSNP:rs397514612EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF097441 mRNA Translation: AAC83802.1
AK312454 mRNA Translation: BAG35361.1
CR542279 mRNA Translation: CAG47075.1
AK223423 mRNA Translation: BAD97143.1
AL133473 Genomic DNA No translation available.
AL022097 Genomic DNA No translation available.
AL392184 Genomic DNA No translation available.
AL121978 Genomic DNA No translation available.
AL590868 Genomic DNA No translation available.
BC020239 mRNA Translation: AAH20239.1
BC021112 mRNA Translation: AAH21112.1
AF161438 mRNA Translation: AAF28998.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4494.1

NCBI Reference Sequences

More...
RefSeqi
NP_001305801.1, NM_001318872.1
NP_006558.1, NM_006567.4
XP_005248869.1, XM_005248812.3
XP_016865675.1, XM_017010186.1
XP_016865676.1, XM_017010187.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000274680; ENSP00000274680; ENSG00000145982
ENST00000324331; ENSP00000316335; ENSG00000145982

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10667

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10667

UCSC genome browser

More...
UCSCi
uc003mwr.3, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF097441 mRNA Translation: AAC83802.1
AK312454 mRNA Translation: BAG35361.1
CR542279 mRNA Translation: CAG47075.1
AK223423 mRNA Translation: BAD97143.1
AL133473 Genomic DNA No translation available.
AL022097 Genomic DNA No translation available.
AL392184 Genomic DNA No translation available.
AL121978 Genomic DNA No translation available.
AL590868 Genomic DNA No translation available.
BC020239 mRNA Translation: AAH20239.1
BC021112 mRNA Translation: AAH21112.1
AF161438 mRNA Translation: AAF28998.1 Frameshift.
CCDSiCCDS4494.1
RefSeqiNP_001305801.1, NM_001318872.1
NP_006558.1, NM_006567.4
XP_005248869.1, XM_005248812.3
XP_016865675.1, XM_017010186.1
XP_016865676.1, XM_017010187.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3CMQX-ray2.20A38-451[»]
3HFVX-ray2.60A38-451[»]
3TEGX-ray2.20A38-451[»]
3TUPX-ray3.05A38-451[»]
5MGHX-ray1.87A47-451[»]
5MGUX-ray1.89A46-451[»]
5MGVX-ray2.05A47-451[»]
5MGWX-ray1.46A46-451[»]
SMRiO95363
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115909, 103 interactors
IntActiO95363, 89 interactors
STRINGi9606.ENSP00000316335

Chemistry databases

BindingDBiO95363
ChEMBLiCHEMBL2511
DrugBankiDB00120, Phenylalanine

PTM databases

iPTMnetiO95363
PhosphoSitePlusiO95363

Genetic variation databases

BioMutaiFARS2

Proteomic databases

EPDiO95363
jPOSTiO95363
MassIVEiO95363
MaxQBiO95363
PaxDbiO95363
PeptideAtlasiO95363
PRIDEiO95363
ProteomicsDBi50824

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2800, 124 antibodies

The DNASU plasmid repository

More...
DNASUi
10667

Genome annotation databases

EnsembliENST00000274680; ENSP00000274680; ENSG00000145982
ENST00000324331; ENSP00000316335; ENSG00000145982
GeneIDi10667
KEGGihsa:10667
UCSCiuc003mwr.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10667
DisGeNETi10667

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FARS2
GeneReviewsiFARS2
HGNCiHGNC:21062, FARS2
HPAiENSG00000145982, Low tissue specificity
MalaCardsiFARS2
MIMi611592, gene
614946, phenotype
617046, phenotype
neXtProtiNX_O95363
OpenTargetsiENSG00000145982
Orphaneti466722, Autosomal recessive spastic paraplegia type 77
319519, Combined oxidative phosphorylation defect type 14
PharmGKBiPA134954893
VEuPathDBiHostDB:ENSG00000145982

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2783, Eukaryota
GeneTreeiENSGT00940000158071
HOGENOMiCLU_022696_1_0_1
InParanoidiO95363
OMAiSKSDTYY
OrthoDBi1115196at2759
PhylomeDBiO95363
TreeFamiTF105798

Enzyme and pathway databases

BRENDAi6.1.1.20, 2681
PathwayCommonsiO95363
ReactomeiR-HSA-379726, Mitochondrial tRNA aminoacylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
10667, 373 hits in 1020 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
FARS2, human
EvolutionaryTraceiO95363

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FARS2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10667
PharosiO95363, Tchem

Protein Ontology

More...
PROi
PR:O95363
RNActiO95363, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145982, Expressed in epithelium of bronchus and 219 other tissues
ExpressionAtlasiO95363, baseline and differential
GenevisibleiO95363, HS

Family and domain databases

Gene3Di3.30.70.380, 1 hit
InterProiView protein in InterPro
IPR006195, aa-tRNA-synth_II
IPR005121, Fdx_antiC-bd
IPR036690, Fdx_antiC-bd_sf
IPR004530, Phe-tRNA-synth_IIc_mito
IPR002319, Phenylalanyl-tRNA_Synthase
PANTHERiPTHR11538:SF41, PTHR11538:SF41, 1 hit
PfamiView protein in Pfam
PF03147, FDX-ACB, 1 hit
PF01409, tRNA-synt_2d, 2 hits
SMARTiView protein in SMART
SM00896, FDX-ACB, 1 hit
SUPFAMiSSF54991, SSF54991, 1 hit
TIGRFAMsiTIGR00469, pheS_mito, 1 hit
PROSITEiView protein in PROSITE
PS50862, AA_TRNA_LIGASE_II, 1 hit
PS51447, FDX_ACB, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSYFM_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95363
Secondary accession number(s): B2R664
, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: May 1, 1999
Last modified: September 29, 2021
This is version 190 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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