FARSB (phenylalanyl-tRNA synthetase subunit beta)

Gene

• Entrez ID: 10056
• Gene name: Phenylalanyl-tRNA synthetase subunit beta
• Gene symbol: FARSB
• Synonyms (NCBI Gene): FARSLB, FRSB, HSPC173, NEDBLLA, PheHB, PheRS, RILDBC, RILDBC1, RJBS
• Chromosome: 2
• Chromosome location: 2q36.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs753710639	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs767956337	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs773579570	C>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs777071414	C>G,T	Pathogenic	Splice donor variant
rs1396171148	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1419129874	A>G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs1466642025	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553549333	G>TT	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553553086	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553554543	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048577	hsa-miR-100-5p	CLASH	23622248
MIRT041199	hsa-miR-193b-3p	CLASH	23622248
MIRT037617	hsa-miR-744-5p	CLASH	23622248
MIRT518613	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT518612	hsa-miR-3681-5p	PAR-CLIP	23446348
MIRT518611	hsa-miR-6849-5p	PAR-CLIP	23446348
MIRT518610	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT518608	hsa-miR-1273f	PAR-CLIP	23446348
MIRT518609	hsa-miR-4683	PAR-CLIP	23446348
MIRT518607	hsa-miR-4775	PAR-CLIP	23446348
MIRT518606	hsa-miR-4727-3p	PAR-CLIP	23446348
MIRT518605	hsa-miR-1270	PAR-CLIP	23446348
MIRT518604	hsa-miR-620	PAR-CLIP	23446348
MIRT518603	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT518602	hsa-miR-6083	PAR-CLIP	23446348
MIRT518613	hsa-miR-590-3p	PAR-CLIP	23446348
MIRT518612	hsa-miR-3681-5p	PAR-CLIP	23446348
MIRT518611	hsa-miR-6849-5p	PAR-CLIP	23446348
MIRT518610	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT518608	hsa-miR-1273f	PAR-CLIP	23446348
MIRT518609	hsa-miR-4683	PAR-CLIP	23446348
MIRT518607	hsa-miR-4775	PAR-CLIP	23446348
MIRT518606	hsa-miR-4727-3p	PAR-CLIP	23446348
MIRT518605	hsa-miR-1270	PAR-CLIP	23446348
MIRT518604	hsa-miR-620	PAR-CLIP	23446348
MIRT518603	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT518602	hsa-miR-6083	PAR-CLIP	23446348
MIRT989468	hsa-miR-1228	CLIP-seq
MIRT989469	hsa-miR-140-3p	CLIP-seq
MIRT989470	hsa-miR-3123	CLIP-seq
MIRT989471	hsa-miR-450b-3p	CLIP-seq
MIRT989472	hsa-miR-4646-5p	CLIP-seq
MIRT989473	hsa-miR-4713-3p	CLIP-seq
MIRT989474	hsa-miR-4747-5p	CLIP-seq
MIRT989475	hsa-miR-638	CLIP-seq
MIRT989476	hsa-miR-769-3p	CLIP-seq
MIRT1993268	hsa-miR-1197	CLIP-seq
MIRT1993269	hsa-miR-183	CLIP-seq
MIRT989470	hsa-miR-3123	CLIP-seq
MIRT1993270	hsa-miR-320e	CLIP-seq
MIRT1993271	hsa-miR-339-5p	CLIP-seq
MIRT1993272	hsa-miR-4477b	CLIP-seq
MIRT989472	hsa-miR-4646-5p	CLIP-seq
MIRT989474	hsa-miR-4747-5p	CLIP-seq
MIRT1993273	hsa-miR-4774-5p	CLIP-seq
MIRT1993274	hsa-miR-765	CLIP-seq
MIRT2227112	hsa-miR-1301	CLIP-seq
MIRT2227113	hsa-miR-377	CLIP-seq
MIRT2227114	hsa-miR-4660	CLIP-seq
MIRT2227115	hsa-miR-5047	CLIP-seq
MIRT1993274	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0003723	Function	RNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IDA	20223217
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IEA
GO:0004826	Function	Phenylalanine-tRNA ligase activity	TAS	10049785
GO:0005515	Function	Protein binding	IPI	20223217, 28514442, 32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	20223217
GO:0005737	Component	Cytoplasm	TAS	10049785
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	TAS	10049785
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IBA
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IDA	20223217
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IEA
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IBA
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IDA	20223217
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IPI	20223217
GO:0016020	Component	Membrane	HDA	19946888
GO:0016874	Function	Ligase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051290	Process	Protein heterotetramerization	IDA	20223217

Other IDs

• MIM: 609690
• HGNC: 17800
• e!Ensembl: ENSG00000116120

Protein

• UniProt ID: Q9NSD9
• Protein name: Phenylalanine--tRNA ligase beta subunit (EC 6.1.1.20) (Phenylalanyl-tRNA synthetase beta subunit) (PheRS)
• PDB: 3L4G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18262	PhetRS_B1	1 → 90	Phe-tRNA synthetase beta subunit B1 domain	Domain
  PF03483	B3_4	117 → 279	B3/4 domain	Domain
  PF03484	B5	308 → 374	tRNA synthetase B5 domain	Domain
  PF17759	tRNA_synthFbeta	377 → 585	Phenylalanyl tRNA synthetase beta chain CLM domain	Domain

• Sequence:

  MPTVSVKRDLLFQALGRTYTDEEFDELCFEFGLELDEITSEKEIISKEQGNVKAAGASDV
  VLYKIDVPANRYDLLCLEGLVRGLQVFKERIKAPVYKRVMPDGKIQKLIITEETAKIRPF
  AVAAVLRNIKFTKDRYDSFIELQEKLHQNICRKRALVAIGTHDLDTLSGPFTYTAKRPSD
  IKFKPLNKTKEYTACELMNIYKTDNHLKHYLHIIENKPLYPVIYDSNGVVLSMPPIINGD
  HSRITVNTRNIFIECTGTDFTKAKIVLDIIVTMFSEYCENQFTVEAAEVVFPNGKSHTFP
  ELAYRKEMVRADLINKKVGIRETPENLAKLLTRMYLKSEVIGDGNQIEIEIPPTRADIIH
  ACDIVEDAAIAYGYNNIQMTLPKTYTIANQFPLNKLTELLRHDMAAAGFTEALTFALCSQ
  EDIADKLGVDISATKAVHISNPKTAEFQVARTTLLPGLLKTIAANRKMPLPLKLFEISDI
  VIKDSNTDVGAKNYRHLCAVYYNKNPGFEIIHGLLDRIMQLLDVPPGEDKGGYVIKASEG
  PAFFPGRCAEIFARGQSVGKLGVLHPDVITKFELTMPCSSLEINVGPFL

• Sequence length: 589

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cerebral calcification	Pathogenic	rs1396171148, rs1553554543, rs1553553086, rs1466642025, rs1419129874	RCV000656663 RCV000656689 RCV000656702 RCV000656728 RCV000656729
Cirrhosis of liver	Pathogenic	rs1396171148, rs1553554543, rs1553553086, rs1466642025, rs1419129874	RCV000656663 RCV000656689 RCV000656702 RCV000656728 RCV000656729
Interstitial pneumonitis	Pathogenic	rs1396171148, rs1553554543, rs1553553086, rs1466642025, rs1419129874	RCV000656663 RCV000656689 RCV000656702 RCV000656728 RCV000656729
Rajab interstitial lung disease with brain calcifications	Pathogenic; Likely pathogenic	rs1553549333, rs773579570, rs777071414, rs1396171148, rs1553553086, rs1466642025, rs767956337	RCV000656392 RCV000754847 RCV000754845 RCV000754849 RCV000754848 RCV000754850 RCV000754846
Rajab interstitial lung disease with brain calcifications 1	Pathogenic; Likely pathogenic	rs2106209945, rs2106230623, rs777071414, rs767956337	RCV002249980 RCV002249981 RCV002499132 RCV004595857
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	Pathogenic	rs1553549333	RCV000677233
Vascular dilatation	Pathogenic	rs1396171148, rs1553554543, rs1553553086, rs1466642025, rs1419129874	RCV000656663 RCV000656689 RCV000656702 RCV000656728 RCV000656729

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs201693414	RCV005921392
Colon adenocarcinoma	Benign	rs143154293	RCV005927987
Familial cancer of breast	Benign	rs143154293	RCV005927986
FARSB-related disorder	Benign; Uncertain significance; Likely benign	rs7185, rs111567015, rs147487059, rs141065703, rs146768351, rs141929079, rs138500296, rs138310437, rs77827981, rs201693414, rs36025173, rs199603071, rs750806415, rs12467164, rs116655892	RCV003980482 RCV003956157 RCV003948515 RCV003956158 RCV003434334 RCV003978617 RCV003970977 RCV003903587 RCV003923636 RCV003970866 RCV003913722 RCV003980915 RCV003899312 RCV003976692 RCV003976725
Hepatocellular carcinoma	Benign	rs143154293	RCV005927989
Lung cancer	Likely benign	rs761393081	RCV005926182
Malignant tumor of urinary bladder	Benign	rs143154293	RCV005927988
Melanoma	Uncertain significance	rs760096037	RCV005925630
Thyroid cancer, nonmedullary, 1	Benign	rs143154293	RCV005927990
Uterine corpus endometrial carcinoma	Benign	rs143154293	RCV005927991

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	35132614
Breast Neoplasms	Associate	40497472
Carcinoma Hepatocellular	Stimulate	37074800, 38069034
Carcinoma Hepatocellular	Associate	40621461
Facial Dysmorphism with Multiple Malformations	Associate	35132614
Fibrosis	Associate	29979980
Lung Diseases Interstitial	Associate	35132614
Neoplasm Metastasis	Stimulate	34159625
Neoplasms	Associate	34159625, 37074800, 40497472
Stomach Neoplasms	Stimulate	34159625, 37074800