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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51520
Gene name Gene Name - the full gene name approved by the HGNC.	Leucyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LARS1
Synonyms (NCBI Gene) Gene synonyms aliases	HSPC192, ILFS1, LARS, LEURS, LEUS, LFIS, LRS, PIG44, RNTLS, cLRS, hr025Cl
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ILFS1, LARS, LRS
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase c

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139648263	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201861847	T>C	Pathogenic	Missense variant, coding sequence variant
rs369437593	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, stop gained
rs757195926	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224047	AAATA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs863224048	TC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs1057523128	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523129	C>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002161	Function	Aminoacyl-tRNA editing activity	IEA
GO:0004819	Function	Glutamine-tRNA ligase activity	IDA	26869582
GO:0004823	Function	Leucine-tRNA ligase activity	IBA	21873635
GO:0004823	Function	Leucine-tRNA ligase activity	TAS
GO:0005096	Function	GTPase activator activity	IMP	22424946
GO:0005515	Function	Protein binding	IPI	16055448, 22424946, 28514442
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	22424946
GO:0005764	Component	Lysosome	IMP	22424946
GO:0005783	Component	Endoplasmic reticulum	IDA	22424946
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006425	Process	Glutaminyl-tRNA aminoacylation	IDA	26869582
GO:0006429	Process	Leucyl-tRNA aminoacylation	IBA	21873635
GO:0008361	Process	Regulation of cell size	IMP	22424946
GO:0012505	Component	Endomembrane system	IDA	22424946
GO:0016604	Component	Nuclear body	IDA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0032008	Process	Positive regulation of TOR signaling	IMP	22424946
GO:0034198	Process	Cellular response to amino acid starvation	IMP	22424946
GO:0043547	Process	Positive regulation of GTPase activity	IMP	22424946
GO:0071230	Process	Cellular response to amino acid stimulus	IMP	22424946
GO:0071233	Process	Cellular response to leucine	IMP	22424946
GO:0106074	Process	Aminoacyl-tRNA metabolism involved in translational fidelity	IEA
GO:1904263	Process	Positive regulation of TORC1 signaling	IMP	22424946
GO:1990253	Process	Cellular response to leucine starvation	IMP	22424946

MIM	HGNC	e!Ensembl
151350	6512	ENSG00000133706

Protein

UniProt ID

Q9P2J5

Protein name

Leucine--tRNA ligase, cytoplasmic (EC 6.1.1.4) (Leucyl-tRNA synthetase) (LeuRS) (cLRS)

Protein function

Aminoacyl-tRNA synthetase that catalyzes the specific attachment of leucine to its cognate tRNA (tRNA(Leu)) (PubMed:25051973, PubMed:32232361). It performs tRNA aminoacylation in a two-step reaction: Leu is initially activated by ATP to form a l

PDB

2WFD , 6KID , 6KIE , 6KQY , 6KR7 , 6LPF , 6LR6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00133	tRNA-synt_1	19 → 110	tRNA synthetases class I (I, L, M and V)	Family
PF00133	tRNA-synt_1	164 → 756	tRNA synthetases class I (I, L, M and V)	Family
PF08264	Anticodon_1	794 → 928	Anticodon-binding domain of tRNA ligase	Domain

Sequence

MAERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLH
LGHTFSLSKCEFAVGYQRLKGKCCLFPFGLHCTGMPIKACADKLKREIELYGCPPDFPDE
EEEEEETSVKTEDIIIKDKAKGKKSKAAAKAGSSKYQWGIMKSLGLSDEEIVKFSEAEHW
LDYFPPLAIQDLKRMGLKVDWRRSFITTDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIY
SPKDGQPCMDHDRQTGEGVGPQEYTLLKLKVLEPYPSKLSGLKGKNIFLVAATLRPETMF
GQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTKDNGVVPVVKELMGEEILGA
SLSAPLTSYKVIYVLPMLTIKEDKGTGVVTSVPSDSPDDIAALRDLKKKQALRAKYGIRD
DMVLPFEPVPVIEIPGFGNLSAVTICDELKIQSQNDREKLAEAKEKIYLKGFYEGIMLVD
GFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDECVVALCDQWYLDYGEENWK
KQTSQCLKNLETFCEETRRNFEATLGWLQEHACSRTYGLGTHLPWDEQWLIESLSDSTIY
MAFYTVAHLLQGGNLHGQAESPLGIRPQQMTKEVWDYVFFKEAPFPKTQIAKEKLDQLKQ
EFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWPTAVRANGHLLLNSEKMSKS
TGNFLTLTQAIDKFSADGMRLALADAGDTVEDANFVEAMADAGILRLYTWVEWVKEMVAN
WDSLRSGPASTFNDRVFASELNAGIIKTDQNYEKMMFKEALKTGFFEFQAAKDKYRELAV
EGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIMNASWPVAGPVNEVLIHSSQ
YLMEVTHDLRLRLKNYMMPAKGKKTDKQPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFE
ANNGKLPDNKVIASELGSMPELKKYMKKVMPFVAMIKENLEKMGPRILDLQLEFDEKAVL
MENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVFRIEPGVSVSLVNPQPSNGH
FSTKIEIRQGDNCDSIIRRLMKMNRGIKDLSKVKLMRFDDPLLGPRRVPVLGKEYTEKTP
ISEHAVFNVDLMSKKIHLTENGIRVDIGDTIIYLVH

Sequence length

1176

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Cytosolic tRNA aminoacylation

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039 View all (65 more)	26830138
Anemia	Anemia, Anemia, Macrocytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Liver failure	Liver Failure, Acute, INFANTILE LIVER FAILURE SYNDROME 1	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116 View all (10 more)	22607940
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
Anemia	Associate	29875423
Burkitt Lymphoma	Associate	9525618
Carcinogenesis	Associate	18446061
Colorectal Neoplasms	Associate	37096225
Diabetes Mellitus Type 2	Associate	15919814
Gonadal dysgenesis XX type deafness	Associate	23541342, 26657938
Hearing Loss	Associate	23541342
Hypoalbuminemia	Associate	29875423
Hypokalemia Familial	Associate	29875423
Lung Diseases	Associate	29875423
Lung Neoplasms	Associate	18446061, 37096225
Lymphatic Metastasis	Associate	37096225
MELAS Syndrome	Associate	12822890
Noninsulin dependent diabetes mellitus with deafness	Associate	12822890
Osteosarcoma	Associate	35962451
Primary Ovarian Insufficiency	Associate	23541342

LARS1 (leucyl-tRNA synthetase 1)