QARS1 (glutaminyl-tRNA synthetase 1)

Gene

• Entrez ID: 5859
• Gene name: Glutaminyl-tRNA synthetase 1
• Gene symbol: QARS1
• Synonyms: GLNRS, MSCCA, PRO2195, QARS
• 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

SNPs

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004819	Function	Glutamine-tRNA ligase activity	IBA	21873635
GO:0004819	Function	Glutamine-tRNA ligase activity	IDA	26869582
GO:0004819	Function	Glutamine-tRNA ligase activity	TAS
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:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
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	IBA	21873635
GO:0006425	Process	Glutaminyl-tRNA aminoacylation	IDA	24656866, 26869582
GO:0006469	Process	Negative regulation of protein kinase activity	IDA	11096076
GO:0007420	Process	Brain development	IMP	24656866
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA	21873635
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
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:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	11096076
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IDA	11096076

Other IDs

• MIM: 603727
• HGNC: 9751
• e!Ensembl: 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

• Sequence:

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

• Sequence length: 775

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis
Metabolic pathways

Reactome:

Cytosolic tRNA aminoacylation
Mitochondrial tRNA aminoacylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diffuse cerebral and cerebellar atrophy - intractable seizures - microcephaly syndrome	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	rs587777331, rs587777333, rs587777334, rs1064795119, rs755674457, rs1241706645, rs1553751717, rs1559966797, rs767667312, rs1024765171, rs141184565, rs1186557939, rs2042472129
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral atrophy	Cerebral atrophy
Congenital epicanthus	Congenital Epicanthus
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY		25432320, 24656866, 26869582
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Posteriorly rotated ear	Posteriorly rotated ear
Status epilepticus	Status Epilepticus
Strabismus	Strabismus