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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 ‘Function’ 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

    • ATP binding Source: UniProtKB-KW
    • phenylalanine-tRNA ligase activity Source: UniProtKB
    • tRNA binding Source: UniProtKB

    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

    Reactome - a knowledgebase of biological pathways and processes

    More...
    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

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000145982.11

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:21062 FARS2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    611592 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_O95363

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    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 mutations 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.
    See also OMIM:614946
    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 mutations 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.
    See also OMIM:617046
    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 mutation, Hereditary spastic paraplegia, Neurodegeneration, Primary mitochondrial disease

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    10667

    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

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL2511

    Drug and drug target database

    More...
    DrugBanki
    DB00120 L-Phenylalanine

    Polymorphism and mutation 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 polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000035813? – 451Phenylalanine--tRNA ligase, mitochondrial
    <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

    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

    More...
    EPDi
    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 human 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.

    More...
    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

    More...
    Bgeei
    ENSG00000145982 Expressed in 206 organ(s), highest expression level in epithelium of bronchus

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_FARS2

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    O95363 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    O95363 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA018148
    HPA028836

    <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%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    115909, 52 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    O95363, 78 interactors

    Molecular INTeraction database

    More...
    MINTi
    O95363

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000274680

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    O95363

    <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

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    O95363

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

    More...
    SMRi
    O95363

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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
    COG0016 LUCA
    COG0072 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000158071

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000165163

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG082540

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    O95363

    KEGG Orthology (KO)

    More...
    KOi
    K01889

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    TYFPFTQ

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G07OD

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    O95363

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF105798

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    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

    More...
    PANTHERi
    PTHR11538:SF41 PTHR11538:SF41, 1 hit

    Pfam protein domain database

    More...
    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

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

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF54991 SSF54991, 1 hit

    TIGRFAMs; a protein family database

    More...
    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>.<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 2 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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q5JRF7Q5JRF7_HUMAN
    Phenylalanine--tRNA ligase, mitocho...
    FARS2
    101Annotation 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>
    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 at position 414.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

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    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

    UniGene gene-oriented nucleotide sequence clusters

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    UniGenei
    Hs.484547

    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

    More...
    KEGGi
    hsa:10667

    UCSC genome browser

    More...
    UCSCi
    uc003mwr.3 human

    Keywords - Coding sequence diversityi

    Polymorphism

    <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
    UniGeneiHs.484547

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

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    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

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    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[»]
    ProteinModelPortaliO95363
    SMRiO95363
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi115909, 52 interactors
    IntActiO95363, 78 interactors
    MINTiO95363
    STRINGi9606.ENSP00000274680

    Chemistry databases

    BindingDBiO95363
    ChEMBLiCHEMBL2511
    DrugBankiDB00120 L-Phenylalanine

    PTM databases

    iPTMnetiO95363
    PhosphoSitePlusiO95363

    Polymorphism and mutation databases

    BioMutaiFARS2

    Proteomic databases

    EPDiO95363
    MaxQBiO95363
    PaxDbiO95363
    PeptideAtlasiO95363
    PRIDEiO95363
    ProteomicsDBi50824

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    10667
    Structural Biology KnowledgebaseSearch...

    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
    EuPathDBiHostDB:ENSG00000145982.11

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    FARS2
    HGNCiHGNC:21062 FARS2
    HPAiHPA018148
    HPA028836
    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

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2783 Eukaryota
    COG0016 LUCA
    COG0072 LUCA
    GeneTreeiENSGT00940000158071
    HOGENOMiHOG000165163
    HOVERGENiHBG082540
    InParanoidiO95363
    KOiK01889
    OMAiTYFPFTQ
    OrthoDBiEOG091G07OD
    PhylomeDBiO95363
    TreeFamiTF105798

    Enzyme and pathway databases

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

    Miscellaneous databases

    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

    Protein Ontology

    More...
    PROi
    PR:O95363

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000145982 Expressed in 206 organ(s), highest expression level in epithelium of bronchus
    CleanExiHS_FARS2
    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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: December 5, 2018
    This is version 172 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, Complete proteome, Reference proteome

    Documents

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