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FLASH GENE

Symbol

HARS

contributors: mct - updated : 26-11-2010

HGNC name	histidyl-tRNA synthetase
HGNC id	4816

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT2W Charcot-Marie-Tooth disease, axonal, type 2W USH3B Usher syndrome type 3B
Location	5q31.3      Physical location : 140.053.490 - 140.070.971
Synonym name	histidine tRNA ligase 1, cytoplasmic
	histidine translase
Synonym symbol(s)	HRS, FLJ20491, HisRS, Jo-1
EC.number	6.1.1.21

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
text	a head-to-head orientation with HARSL
STRUCTURE	17.48 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	two distinct promoters

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D5S476 - D5S1856 - CTNNA1 - D5S1372 - D5S594 - GNPDA1 - UBE2B - HDAC3 - D5S166 - D5S2116 - EIF4EBP3 - D5S2009 - CD14 - NDUFA2 - D5S1760 - HARS - D5S658 - PCDHA@ - PCDHB@ - PCDHG@ - APBB3 - HBEGF - D5S2374 - PFDN1 - D5S2119 - D5S2010 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002109 13 - 1981 NP_002100 - 509 - 2002 12056811

EXPRESSION

Type

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 Cardiovascular heart         Digestive liver         Endocrine thyroid         Nervous brain           ganglia         Reproductive female system breast mammary gland     Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one WHEP-TRS domain

HOMOLOGY

Homologene

FAMILY

class-II aminoacyl-tRNA synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins
	catalyzing the transfer of the aminoacyl moiety from histidyl-adenylate to the terminal adenosine (A76) of tRNA
	key role for histidyl-tRNA synthetase in the pathogenesis of idiopathic inflammatory myopathy
	can likely trigger both innate and adaptive immune responses that culminate in severe muscle inflammation that is the hallmark of idiopathic inflammatory myopathy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

tRNA aminoacylation activity of HARS appeared to be increased upon oxidative modification

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2W , USH3B

Susceptibility

to rheumatoid arthritis

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS