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FLASH GENE

Symbol

QARS

contributors: mct - updated : 18-04-2014

HGNC name	glutaminyl-tRNA synthetase
HGNC id	9751

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCCH2 microcephaly with cerebellar hypoplasia syndrome 2
Location	3p21.31      Physical location : 49.133.365 - 49.142.171
Synonym name	glutamine tRNA ligase
Synonym symbol(s)	GLNRS, PRO2195
EC.number	6.1.1.18

DNA

TYPE	functioning gene
STRUCTURE	9.19 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001272073 24 - 2810 NP_001259002 - 764 - Ko (2001) NM_005051 24 - 2843 NP_005042 88 775 - -

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Lymphoid/Immune spleen       highly   thymus       highly Nervous brain forebrain cerebral cortex   highly Homo sapiens Fetal Urinary kidney       highly

cell lineage
cell lines	tumor cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		globular
STRUCTURE

motifs/domains

N-terminal domain of QARS is suggested to interact with arginyl-tRNA synthetase

HOMOLOGY

interspecies

homolog to C.elegans y41e3.4

Homologene

FAMILY

class 1 aminoacyl tRNA synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
text	endogenous QARS was mainly distributed in the cytoplasm and showed a similar localization pattern to an endoplasmic reticulum (ER) protein, but not a Golgi protein

basic FUNCTION	is required for the dendritic and axonal terminal arborization during development
	important role of QARS during brain development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with MAP3K5 (inhibiting its activity)
	have glutamine-dependent antiapoptotic functions through binding to ASK1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCCH2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS