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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5859
Gene name	Glutaminyl-tRNA synthetase 1
Gene symbol	QARS1
Synonyms (NCBI Gene)	GLNRSMSCCAPRO2195QARS
Chromosome	3
Chromosome location	3p21.31
Summary	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

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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	Likely pathogenic; Pathogenic	rs1232739970, rs1262558494, rs746293241, rs2107099019, rs2042438780, rs772343264, rs747938605, rs2107101318, rs587777331, rs587777333, rs587777334, rs2107112006, rs2107100555, rs2107111037, rs1331307146 View all (41 more)	RCV001379874 RCV001376894 RCV001380568 RCV001381438 RCV001381217 View all (52 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 43	Likely pathogenic; Pathogenic	rs587777334	RCV004764850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1024765171	RCV005897420	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
QARS1-related disorder	Pathogenic	rs587777331	RCV003415881	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Likely pathogenic	rs1232739970	RCV005912624	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

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.
Attention deficit hyperactivity disorder	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY, INTRACTABLE SEIZURES, PROGRESSIVE MICROCEPHALY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, SHORT STATURE, INTELLECTUAL DISABILITY, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY-SHORT STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	Pubtator	29875423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28332277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26869582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	Diffuse Cerebral And Cerebellar Atrophy - Intractable Seizures - Microcephaly Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	24656866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25471517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28056632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29875423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29875423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	25432320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24656866, 25471517, 28620870		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	ORPHANET_DG	24656866		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	UNIPROT_DG	24656866, 26869582		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	CLINVAR_DG	25432320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY	Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	26869582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28056632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

QARS1 (glutaminyl-tRNA synthetase 1)