Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

AARS1

contributors: mct/npt - updated : 17-04-2015

HGNC name	alanyl-tRNA synthetase1
HGNC id	20

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT2N Charcot-Marie-Tooth disease, axonal, type 2N DICMT3 dominant intermediate Charcot-Marie-Tooth neuropathy 3 EIEPN infantile epileptic encephalopathy with peripheral neuropathy
Location	16q22.1      Physical location : -
Synonym name	alanine tRNA ligase 1, cytoplasmic
	renal carcinoma antigen NY-REN-42
Synonym symbol(s)	AlaRS, AARS
EC.number	6.1.1.7

DNA

TYPE	functioning gene
STRUCTURE	37.12 kb     21 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001605 21 - 3344 NP_001596 - 968 - 2002 11829477

EXPRESSION

Type

widely

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 intestine large intestine colon   highly Endocrine thyroid       highly Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA
	a second domain which interacts with the rest of the tRNA structure
	L aminoacyl-tRNA synthetase domain (residues 1–254),
	the tRNA recognition domain (residues 255–451),
	the editing domain (residues 468–757),
	C-terminal domain (residues 758–968)

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY

class-II aminoacyl-tRNA synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons
	target autoantibodies in immune polymyositis/dermatomyositis
	ligate amino acids to their cognate tRNAs (Sang Lee 2002)
	catalyzes synthesis of Ala-tRNA(Ala) and hydrolysis of mis-acylated Ser- and Gly-tRNA(Ala) at 2 different catalytic sites

CELLULAR PROCESS

nucleotide, transcription, initiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

other

signaling

nucleic

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction network of aminoacyl-tRNA synthetases and subunits of elongation factor 1 complex, systematic interaction network probably to enhance the efficiency of in vivo protein synthesis (Sang Lee 2002)
	translation requires the specific attachment of AAs to AARS and the subsequent delivery of aminoacyl-tRNAs to the ribosome by elongation factor 1 alpha (EEF1A2)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DICMT3 , CMT2N , EIEPN

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   resulted in ubiquitinated protein aggregates and mitochondrial defects in cardiomyocytes that were accompanied by progressive cardiac fibrosis and dysfunction 0)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS