Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2193
Gene name	Phenylalanyl-tRNA synthetase subunit alpha
Gene symbol	FARSA
Synonyms (NCBI Gene)	CML33FARSLFARSLAFRSAPheHARILDBC2
Chromosome	19
Chromosome location	19p13.13
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). Th

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Show/Hide all (132)

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
MIRT451407	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT451406	hsa-miR-3125	PAR-CLIP	23592263
MIRT451405	hsa-miR-3916	PAR-CLIP	23592263
MIRT451404	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT451403	hsa-miR-4476	PAR-CLIP	23592263
MIRT451402	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451401	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT451400	hsa-miR-3153	PAR-CLIP	23592263
MIRT451399	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT451398	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT451397	hsa-miR-4492	PAR-CLIP	23592263
MIRT451396	hsa-miR-4498	PAR-CLIP	23592263
MIRT451395	hsa-miR-5001-5p	PAR-CLIP	23592263
MIRT451394	hsa-miR-762	PAR-CLIP	23592263
MIRT451393	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT451392	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT451391	hsa-miR-4488	PAR-CLIP	23592263
MIRT451390	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT451389	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT451387	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT451388	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT451386	hsa-miR-4447	PAR-CLIP	23592263
MIRT451385	hsa-miR-4472	PAR-CLIP	23592263
MIRT451384	hsa-miR-1302	PAR-CLIP	23592263
MIRT451383	hsa-miR-4298	PAR-CLIP	23592263
MIRT727686	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727685	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT451408	hsa-miR-583	PAR-CLIP	23592263
MIRT451407	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT451406	hsa-miR-3125	PAR-CLIP	23592263
MIRT451405	hsa-miR-3916	PAR-CLIP	23592263
MIRT451404	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT451403	hsa-miR-4476	PAR-CLIP	23592263
MIRT451402	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451401	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT451400	hsa-miR-3153	PAR-CLIP	23592263
MIRT451399	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT451398	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT451397	hsa-miR-4492	PAR-CLIP	23592263
MIRT451396	hsa-miR-4498	PAR-CLIP	23592263
MIRT451395	hsa-miR-5001-5p	PAR-CLIP	23592263
MIRT451394	hsa-miR-762	PAR-CLIP	23592263
MIRT451393	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT451392	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT451391	hsa-miR-4488	PAR-CLIP	23592263
MIRT451390	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT451389	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT451387	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT451388	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT451386	hsa-miR-4447	PAR-CLIP	23592263
MIRT451385	hsa-miR-4472	PAR-CLIP	23592263
MIRT451384	hsa-miR-1302	PAR-CLIP	23592263
MIRT451383	hsa-miR-4298	PAR-CLIP	23592263
MIRT989459	hsa-miR-1910	CLIP-seq
MIRT989460	hsa-miR-300	CLIP-seq
MIRT989461	hsa-miR-381	CLIP-seq
MIRT989462	hsa-miR-3909	CLIP-seq
MIRT989463	hsa-miR-3974	CLIP-seq
MIRT989464	hsa-miR-4292	CLIP-seq
MIRT989465	hsa-miR-4308	CLIP-seq
MIRT989466	hsa-miR-4320	CLIP-seq
MIRT989467	hsa-miR-624	CLIP-seq
MIRT1993235	hsa-miR-1252	CLIP-seq
MIRT1993236	hsa-miR-1266	CLIP-seq
MIRT1993237	hsa-miR-128	CLIP-seq
MIRT1993238	hsa-miR-15a	CLIP-seq
MIRT1993239	hsa-miR-15b	CLIP-seq
MIRT1993240	hsa-miR-16	CLIP-seq
MIRT1993241	hsa-miR-195	CLIP-seq
MIRT1993242	hsa-miR-214	CLIP-seq
MIRT1993243	hsa-miR-27a	CLIP-seq
MIRT1993244	hsa-miR-27b	CLIP-seq
MIRT1993245	hsa-miR-3127-5p	CLIP-seq
MIRT1993246	hsa-miR-3136-3p	CLIP-seq
MIRT1993247	hsa-miR-329	CLIP-seq
MIRT1993248	hsa-miR-3605-5p	CLIP-seq
MIRT1993249	hsa-miR-3619-5p	CLIP-seq
MIRT1993250	hsa-miR-362-3p	CLIP-seq
MIRT1993251	hsa-miR-3661	CLIP-seq
MIRT1993252	hsa-miR-3918	CLIP-seq
MIRT1993253	hsa-miR-411	CLIP-seq
MIRT1993254	hsa-miR-424	CLIP-seq
MIRT1993255	hsa-miR-4279	CLIP-seq
MIRT1993256	hsa-miR-4436a	CLIP-seq
MIRT1993257	hsa-miR-4518	CLIP-seq
MIRT1993258	hsa-miR-4700-3p	CLIP-seq
MIRT1993259	hsa-miR-497	CLIP-seq
MIRT1993260	hsa-miR-518a-5p	CLIP-seq
MIRT1993261	hsa-miR-527	CLIP-seq
MIRT1993262	hsa-miR-542-5p	CLIP-seq
MIRT1993263	hsa-miR-631	CLIP-seq
MIRT1993264	hsa-miR-663b	CLIP-seq
MIRT1993265	hsa-miR-676	CLIP-seq
MIRT1993266	hsa-miR-761	CLIP-seq
MIRT1993267	hsa-miR-936	CLIP-seq
MIRT1993236	hsa-miR-1266	CLIP-seq
MIRT1993237	hsa-miR-128	CLIP-seq
MIRT1993238	hsa-miR-15a	CLIP-seq
MIRT1993239	hsa-miR-15b	CLIP-seq
MIRT1993240	hsa-miR-16	CLIP-seq
MIRT1993241	hsa-miR-195	CLIP-seq
MIRT1993242	hsa-miR-214	CLIP-seq
MIRT1993243	hsa-miR-27a	CLIP-seq
MIRT1993244	hsa-miR-27b	CLIP-seq
MIRT1993245	hsa-miR-3127-5p	CLIP-seq
MIRT1993246	hsa-miR-3136-3p	CLIP-seq
MIRT1993247	hsa-miR-329	CLIP-seq
MIRT1993248	hsa-miR-3605-5p	CLIP-seq
MIRT1993249	hsa-miR-3619-5p	CLIP-seq
MIRT1993250	hsa-miR-362-3p	CLIP-seq
MIRT1993251	hsa-miR-3661	CLIP-seq
MIRT2227110	hsa-miR-3677-5p	CLIP-seq
MIRT1993252	hsa-miR-3918	CLIP-seq
MIRT1993253	hsa-miR-411	CLIP-seq
MIRT1993254	hsa-miR-424	CLIP-seq
MIRT1993255	hsa-miR-4279	CLIP-seq
MIRT1993256	hsa-miR-4436a	CLIP-seq
MIRT1993257	hsa-miR-4518	CLIP-seq
MIRT2227111	hsa-miR-4641	CLIP-seq
MIRT1993258	hsa-miR-4700-3p	CLIP-seq
MIRT1993259	hsa-miR-497	CLIP-seq
MIRT1993262	hsa-miR-542-5p	CLIP-seq
MIRT1993263	hsa-miR-631	CLIP-seq
MIRT1993264	hsa-miR-663b	CLIP-seq
MIRT1993265	hsa-miR-676	CLIP-seq
MIRT1993266	hsa-miR-761	CLIP-seq
MIRT1993267	hsa-miR-936	CLIP-seq

Show/Hide all (28)

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
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IBA
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	9177188
GO:0005515	Function	Protein binding	IPI	20223217, 21163940, 24965446, 25416956, 28514442, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	20223217
GO:0005737	Component	Cytoplasm	TAS	9177188
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
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:0043039	Process	TRNA aminoacylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051290	Process	Protein heterotetramerization	IDA	20223217

MIM	HGNC	e!Ensembl
602918	3592	ENSG00000179115

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

MADGQVAELLLRRLEASDGGLDSAELAAELGMEHQAVVGAVKSLQALGEVIEAELRSTKH
WELTAEGEEIAREGSHEARVFRSIPPEGLAQSELMRLPSGKVGFSKAMSNKWIRVDKSAA
DGPRVFRVVDSMEDEVQRRLQLVRGGQAEKLGEKERSELRKRKLLAEVTLKTYWVSKGSA
FSTSISKQETELSPEMISSGSWRDRPFKPYNFLAHGVLPDSGHLHPLLKVRSQFRQIFLE
MGFTEMPTDNFIESSFWNFDALFQPQQHPARDQHDTFFLRDPAEALQLPMDYVQRVKRTH
SQGGYGSQGYKYNWKLDEARKNLLRTHTTSASARALYRLAQKKPFTPVKYFSIDRVFRNE
TLDATHLAEFHQIEGVVADHGLTLGHLMGVLREFFTKLGITQLRFKPAYNPYTEPSMEVF
SYHQGLKKWVEVGNSGVFRPEMLLPMGLPENVSVIAWGLSLERPTMIKYGINNIRELVGH
KVNLQMVYDSPLCRLDAEPRPPPTQEAA

Sequence length

508

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Cytosolic tRNA aminoacylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Rajab interstitial lung disease with brain calcifications 2	Pathogenic; Likely pathogenic	rs375272364, rs139805483, rs941586004, rs1971301248	RCV002249979 RCV003994661 RCV001255421 RCV001255422	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FARSA-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE-BRAIN CALCIFICATION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brain Diseases	Brain disease	Pubtator	35132614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	35132614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	GWASDB_DG	22968135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35918773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	35132614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35918773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	35918773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★★★★★ ★☆☆☆☆ Found in Text Mining only

FARSA (phenylalanyl-tRNA synthetase subunit alpha)