Gene Gene information from NCBI Gene database.
Entrez ID 2193
Gene name Phenylalanyl-tRNA synthetase subunit alpha
Gene symbol FARSA
Synonyms (NCBI Gene)
CML33FARSLFARSLAFRSAPheHARILDBC2
Chromosome 19
Chromosome location 19p13.13
Summary Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). Th
miRNA miRNA information provided by mirtarbase database.
132
miRTarBase ID miRNA Experiments Reference
MIRT052471 hsa-let-7a-5p CLASH 23622248
MIRT046922 hsa-miR-221-3p CLASH 23622248
MIRT041766 hsa-miR-484 CLASH 23622248
MIRT041106 hsa-miR-503-5p CLASH 23622248
MIRT451408 hsa-miR-583 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0003723 Function RNA binding HDA 22681889
GO:0004812 Function Aminoacyl-tRNA ligase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602918 3592 ENSG00000179115
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y285
Protein name Phenylalanine--tRNA ligase alpha subunit (EC 6.1.1.20) (CML33) (Phenylalanyl-tRNA synthetase alpha subunit) (PheRS)
PDB 3L4G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18552 PheRS_DBD1 2 61 PheRS DNA binding domain 1 Domain
PF18553 PheRS_DBD3 75 132 PheRS DNA binding domain 3 Domain
PF18554 PheRS_DBD2 134 166 PheRS DNA binding domain 2 Domain
PF01409 tRNA-synt_2d 209 488 tRNA synthetases class II core domain (F) Domain
Sequence
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Aminoacyl-tRNA biosynthesis   Cytosolic tRNA aminoacylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Rajab interstitial lung disease with brain calcifications 2 Pathogenic; Likely pathogenic rs375272364, rs139805483, rs941586004, rs1971301248 RCV002249979
RCV003994661
RCV001255421
RCV001255422
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Conflicting classifications of pathogenicity rs61737507 RCV005933354
FARSA-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance rs34795408, rs756513794, rs140193183, rs35087277, rs113870503, rs77092376, rs759259970, rs61737507, rs142272380, rs139040383, rs1045913, rs201276620 RCV003938963
RCV003906995
RCV003906845
RCV003973809
RCV003973915
RCV003941929
RCV003961608
RCV003944586
RCV003931427
RCV003921964
RCV003976586
RCV003945804
Lung cancer Conflicting classifications of pathogenicity rs61737507 RCV005933356
Melanoma Conflicting classifications of pathogenicity rs61737507 RCV005933355
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 35132614
Carcinoma Non Small Cell Lung Stimulate 34119765
Facial Dysmorphism with Multiple Malformations Associate 35132614
Failure to Thrive Associate 35918773
Immunoglobulin G4 Related Disease Associate 35132614
Immunologic Deficiency Syndromes Inhibit 35132614
Liver Failure Associate 35918773
Lung Diseases Interstitial Associate 35132614
Multiple Organ Failure Associate 35918773
Neoplasm Metastasis Stimulate 34119765