Phenylalanine–tRNA ligase beta subunit

FARSB
Identifiers
Aliases	FARSB, FARSLB, FRSB, PheHB, PheRS, HSPC173, phenylalanyl-tRNA synthetase beta subunit, phenylalanyl-tRNA synthetase subunit beta, NEDBLLA, RILDBC, RILDBC1
External IDs	OMIM: 609690; MGI: 1346035; GeneCards: FARSB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3L4G
Enzyme activity
Gene location (Human)
Chr.	Chromosome 2 (human)
End	222,656,092 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	78,465,534 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; cardiac muscle tissue of right atrium; ; gingival epithelium; ; pancreatic epithelial cell; ; pancreatic ductal cell; ; skin of arm; ; middle temporal gyrus; ; Brodmann area 23; ; sperm; ; epithelium of nasopharynx;
	Top expressed in
	primitive streak; ; tail of embryo; ; genital tubercle; ; Paneth cell; ; condyle; ; fossa; ; secondary oocyte; ; barrel cortex; ; external carotid artery; ; zygote;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ligase activity; nucleotide binding; aminoacyl-tRNA ligase activity; magnesium ion binding; ATP binding; RNA binding; phenylalanine-tRNA ligase activity; protein binding;
Cellular component	membrane; cytosol; cytoplasm; phenylalanine-tRNA ligase complex;
Biological process	tRNA aminoacylation for protein translation; protein biosynthesis; protein heterotetramerization; phenylalanyl-tRNA aminoacylation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10056
	23874
	ENSG00000116120
	ENSMUSG00000026245
	Q9NSD9
	Q9WUA2
	NM_005687
	NM_001278075; NM_011811
	NP_005678
	NP_001265004; NP_035941
	Wikidata
View/Edit Human	View/Edit Mouse

Phenylalanine–tRNA ligase beta subunit, also called Phenylalanyl-tRNA synthetase beta chain, is an enzyme that in humans is encoded by the FARSB gene.

This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified.

Medical significance

Pathogenic mutations in FARSB are the cause of a disorder called Rajab interstitial lung disease with brain calcifications-1 (RILDBC1), which involves growth defects and lung disease with highly variable severity. In severe cases it can present in infancy and may lead to death.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000116120 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026245 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Rodova M, Ankilova V, Safro MG (Apr 1999). "Human phenylalanyl-tRNA synthetase: cloning, characterization of the deduced amino acid sequences in terms of the structural domains and coordinately regulated expression of the alpha and beta subunits in chronic myeloid leukemia cells". Biochem Biophys Res Commun. 255 (3): 765–73. doi:10.1006/bbrc.1999.0141. PMID 10049785.
1 2 "Entrez Gene: FARSB phenylalanyl-tRNA synthetase, beta subunit".
1 2 "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1; RILDBC1". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

External links

FARSB human gene location in the UCSC Genome Browser.
FARSB human gene details in the UCSC Genome Browser.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000116120 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026245 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10049785-5] Rodova M, Ankilova V, Safro MG (Apr 1999). "Human phenylalanyl-tRNA synthetase: cloning, characterization of the deduced amino acid sequences in terms of the structural domains and coordinately regulated expression of the alpha and beta subunits in chronic myeloid leukemia cells". Biochem Biophys Res Commun. 255 (3): 765–73. doi:10.1006/bbrc.1999.0141. PMID 10049785.

[entrez-6] 1 2 "Entrez Gene: FARSB phenylalanyl-tRNA synthetase, beta subunit".

[omim-7] 1 2 "RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1; RILDBC1". Online Mendelian Inheritance in Man. Johns Hopkins University. Retrieved 2026-09-27.

Phenylalanine–tRNA ligase beta subunit

Medical significance

References

Further reading

External links