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    FARSA phenylalanyl-tRNA synthetase subunit alpha [ Homo sapiens (human) ]

    Gene ID: 2193, updated on 4-Feb-2024

    Summary

    Official Symbol
    FARSAprovided by HGNC
    Official Full Name
    phenylalanyl-tRNA synthetase subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3592
    See related
    Ensembl:ENSG00000179115 MIM:602918; AllianceGenome:HGNC:3592
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRSA; CML33; FARSL; PheHA; FARSLA; RILDBC2
    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). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 24.2), lymph node (RPKM 16.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FARSA in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12922479..12933711, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13046966..13058199, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13033293..13044525, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene glutaryl-CoA dehydrogenase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345 Neighboring gene synaptonemal complex central element protein 2 Neighboring gene CRISPRi-FlowFISH-validated KLF1 regulatory element 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13021591-13021759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13022560-13023262 Neighboring gene Sharpr-MPRA regulatory region 4901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14092 Neighboring gene microRNA 5695 Neighboring gene FARSA antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14093 Neighboring gene Sharpr-MPRA regulatory region 7930 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13045760-13045865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14096 Neighboring gene CRISPRi-FlowFISH-validated RAD23A regulatory element 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13049721-13050470 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:13050707-13051906 Neighboring gene microRNA 6515 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13056454-13057146 Neighboring gene calreticulin Neighboring gene Sharpr-MPRA regulatory region 11818 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13058093-13059292 Neighboring gene RAD23 homolog A, nucleotide excision repair protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:13063321-13064520 Neighboring gene GADD45G interacting protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Rajab interstitial lung disease with brain calcifications 2
    MedGen: C5436603 OMIM: 619013 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phenylalanine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phenylalanine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in phenylalanyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phenylalanyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein heterotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    part_of phenylalanine-tRNA ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of phenylalanine-tRNA ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of phenylalanine-tRNA ligase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    phenylalanine--tRNA ligase alpha subunit
    Names
    pheRS
    phenylalanine tRNA ligase 1, alpha, cytoplasmic
    phenylalanine--tRNA ligase alpha chain
    phenylalanine-tRNA synthetase alpha-subunit
    phenylalanine-tRNA synthetase-like, alpha subunit
    phenylalanyl-tRNA synthetase alpha chain
    phenylalanyl-tRNA synthetase alpha subunit
    phenylalanyl-tRNA synthetase-like, alpha subunit
    NP_004452.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004461.3NP_004452.1  phenylalanine--tRNA ligase alpha subunit

      See identical proteins and their annotated locations for NP_004452.1

      Status: VALIDATED

      Source sequence(s)
      AK130195, BC006495, U07424
      Consensus CDS
      CCDS12287.1
      UniProtKB/Swiss-Prot
      B4E363, Q9NSD8, Q9Y285, Q9Y4W8
      UniProtKB/TrEMBL
      K7ER00, Q6IBR2
      Related
      ENSP00000320309.3, ENST00000314606.9
      Conserved Domains (1) summary
      PTZ00326
      Location:1484
      PTZ00326; phenylalanyl-tRNA synthetase alpha chain; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12922479..12933711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      13046966..13058199 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)