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

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: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12922479..12933711, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13046966..13058199, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13033293..13044525, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

First Report of FARSA in the Regulation of Cell Cycle and Survival in Mantle Cell Lymphoma Cells via PI3K-AKT and FOXO1-RAG1 Axes.
Title: First Report of FARSA in the Regulation of Cell Cycle and Survival in Mantle Cell Lymphoma Cells via PI3K-AKT and FOXO1-RAG1 Axes.
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
Title: FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
Expression studies using fibroblasts isolated from the proband revealed a severe depletion of both FARSB and FARSA protein levels. These data indicate that the FARSB variants destabilize total phenylalanyl-tRNA synthetase levels, thus causing a loss-of-function effect.
Title: Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98885 (e-PCR)
- UniSTS:85590

RH46987 (e-PCR)
- UniSTS:11622

RH70803 (e-PCR)
- UniSTS:14773

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	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 more info	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

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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

EC 6.1.1.20

NCBI Reference Sequences (RefSeq)

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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.