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.	5859
Gene name Gene Name - the full gene name approved by the HGNC.	Glutaminyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	QARS1
Synonyms (NCBI Gene) Gene synonyms aliases	GLNRS, MSCCA, PRO2195, QARS
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first prot

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs62621067	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs144563810	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs370934093	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777331	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs587777333	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1024765171	G>A,T	Likely-pathogenic, uncertain-significance	Intron variant
rs1241706645	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1398173228	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553751717	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559966797	GT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004819	Function	Glutamine-tRNA ligase activity	IBA
GO:0004819	Function	Glutamine-tRNA ligase activity	IDA	26869582
GO:0004819	Function	Glutamine-tRNA ligase activity	IEA
GO:0004819	Function	Glutamine-tRNA ligase activity	TAS	8078941
GO:0004860	Function	Protein kinase inhibitor activity	IMP	11096076
GO:0005515	Function	Protein binding	IPI	15231748, 21988832, 24656866, 25416956, 25910212, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	10791971, 24656866
GO:0005737	Component	Cytoplasm	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006425	Process	Glutaminyl-tRNA aminoacylation	IBA
GO:0006425	Process	Glutaminyl-tRNA aminoacylation	IDA	24656866, 26869582
GO:0006425	Process	Glutaminyl-tRNA aminoacylation	IEA
GO:0007420	Process	Brain development	IMP	24656866
GO:0016874	Function	Ligase activity	IEA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IEA
GO:0019901	Function	Protein kinase binding	IPI	11096076
GO:0032873	Process	Negative regulation of stress-activated MAPK cascade	IDA	11096076
GO:0032991	Component	Protein-containing complex	IMP	11096076
GO:0043039	Process	TRNA aminoacylation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11096076
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IDA	11096076

MIM	HGNC	e!Ensembl
603727	9751	ENSG00000172053

Protein

UniProt ID

P47897

Protein name

Glutamine--tRNA ligase (EC 6.1.1.18) (Glutaminyl-tRNA synthetase) (GlnRS)

Protein function

Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).

PDB

4R3Z , 4YE6 , 4YE8 , 4YE9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04558	tRNA_synt_1c_R1	5 → 162		Family
PF04557	tRNA_synt_1c_R2	165 → 254		Family
PF00749	tRNA-synt_1c	263 → 563	tRNA synthetases class I (E and Q), catalytic domain	Domain
PF03950	tRNA-synt_1c_C	565 → 752	tRNA synthetases class I (E and Q), anti-codon binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate. {ECO:0000269|PubMed:24656866}.

Sequence

MAALDSLSLFTSLGLSEQKARETLKNSALSAQLREAATQAQQTLGSTIDKATGILLYGLA
SRLRDTRRLSFLVSYIASKKIHTEPQLSAALEYVRSHPLDPIDTVDFERECGVGVIVTPE
QIEEAVEAAINRHRPQLLVERYHFNMGLLMGEARAVLKWADGKMIKNEVDMQVLHLLGPK
LEADLEKKFKVAKARLEETDRRTAKDVVENGETADQTLSLMEQLRGEALKFHKPGENYKT
PGYVVTPHTMNLLKQHLEITGGQVRTRFPPEPNGILHIGHAKAINFNFGYAKANNGICFL
RFDDTNPEKEEAKFFTAICDMVAWLGYTPYKVTYASDYFDQLYAWAVELIRRGLAYVCHQ
RGEELKGHNTLPSPWRDRPMEESLLLFEAMRKGKFSEGEATLRMKLVMEDGKMDPVAYRV
KYTPHHRTGDKWCIYPTYDYTHCLCDSIEHITHSLCTKEFQARRSSYFWLCNALDVYCPV
QWEYGRLNLHYAVVSKRKILQLVATGAVRDWDDPRLFTLTALRRRGFPPEAINNFCARVG
VTVAQTTMEPHLLEACVRDVLNDTAPRAMAVLESLRVIITNFPAAKSLDIQVPNFPADET
KGFHQVPFAPIVFIERTDFKEEPEPGFKRLAWGQPVGLRHTGYVIELQHVVKGPSGCVES
LEVTCRRADAGEKPKAFIHWVSQPLMCEVRLYERLFQHKNPEDPTEVPGGFLSDLNLASL
HVVDAALVDCSVALAKPFDKFQFERLGYFSVDPDSHQGKLVFNRTVTLKEDPGKV

Sequence length

775

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis Metabolic pathways		Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Diffuse Cerebral And Cerebellar Atrophy - Intractable Seizures - Microcephaly Syndrome	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	rs1064795119, rs755674457, rs1241706645, rs1553751717, rs1559966797, rs767667312, rs1024765171, rs587777331, rs141184565, rs587777333, rs1186557939, rs587777334, rs2042472129	N/A
Mental retardation	Intellectual disability, autosomal dominant 43	rs587777334	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Attention Deficit Hyperactivity Disorder	attention deficit hyperactivity disorder	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anemia	Associate	29875423
Attention Deficit Disorder with Hyperactivity	Associate	28332277
Brain Diseases	Associate	26869582
Hypoalbuminemia	Associate	29875423
Hypokalemia Familial	Associate	29875423
Lung Diseases	Associate	29875423
Neurologic Manifestations	Associate	26869582

QARS1 (glutaminyl-tRNA synthetase 1)