Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2193
Gene name Gene Name - the full gene name approved by the HGNC.
Phenylalanyl-tRNA synthetase subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FARSA
Synonyms (NCBI Gene) Gene synonyms aliases
CML33, FARSL, FARSLA, FRSA, PheHA, RILDBC2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602918 3592 ENSG00000179115
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Rajab interstitial lung disease with brain calcifications Rajab interstitial lung disease with brain calcifications 2 N/A N/A GenCC
Associations from Text Mining Disease 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