MGP Database

MGP004672

Record overview

MGPD ID	MGP004672
Gene ID	23438
Species	Homo sapiens (Human)
Gene Name	histidyl-tRNA synthetase 2, mitochondrial
Gene Symbol	HARS2
Synonyms	HO3; HARSL; HARSR; PRLTS2;
Alternate names	probable histidine--tRNA ligase, mitochondrial; HARS-related; hisRS; histidine tRNA ligase 2, mitochondrial (putative); histidine translase; histidine-tRNA ligase homolog; histidyl-tRNA synthetase 2, mitochondrial (putative); probable histidyl-tRNA synthetase, mitochondrial;
Chromosome	5
Map Location	5q31.3
EC Number	6.1.1.21
Summary	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Orthologs	View orthologs and multiple alignments for HARS2

Proteins

probable histidine--tRNA ligase, mitochondrial isoform 1 precursor

Refseq ID:	NP_036340
Protein GI:	15029520
UniProt ID:	P49590
mRNA ID:	NM_012208
Length:	506
RefSeq Status:

MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQVAEAVLTSQLKAHQEKPNFIIKTPKGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFEL
KETLTEKYGEDSGLMYDLKDQGGELLSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEIL
SGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFRAICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGL
GDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKT
KGEKVRTTETQVFVATPQKNFLQERLKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQ
KRLSES

transit_peptide: 1..33
inference: non-experimental evidence, no additional details recorded
note: Mitochondrion (Potential); propagated from UniProtKB/Swiss-Prot (P49590.1)
calculated_mol_wt: 3551
peptide sequence: 
MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRC

mat_peptide: 34..506
product: Probable histidine--tRNA ligase, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P49590.1)
calculated_mol_wt: 53355
peptide sequence: 
QSQVAEAVLTSQLKAHQEKPNFIIKTPKGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKDQGGELLSLRYDLT
VPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFR
AICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGLGDLKLLFEYLTLFGIADKISFDLSLARGLDYYT
GVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKNFLQERLKLIAELW
DSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES

probable histidine--tRNA ligase, mitochondrial isoform 2

Refseq ID:	NP_001265660
Protein GI:	523567531
UniProt ID:	P49590
mRNA ID:	NM_001278731
Length:	481
RefSeq Status:

MPLLGLLPRRAWASLLSQLLRPPCASCTGAVRCQSQGTRDLSPQHMVVREKILDLVISCFKRHGAKGMDTPAFELKETLTEKYGEDSGLMYDLKDQGGEL
LSLRYDLTVPFARYLAMNKVKKMKRYHVGKVWRRESPTIVQGRYREFCQCDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVC
GVPESKFRAICSSIDKLDKMAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGLGDLKLLFEYLTLFGIADKISFDLSL
ARGLDYYTGVIYEAVLLQTPTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKNFLQER
LKLIAELWDSGIKAEMLYKNNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES

probable histidine--tRNA ligase, mitochondrial isoform 3

Refseq ID:	NP_001265661
Protein GI:	523567533
UniProt ID:	P49590
mRNA ID:	NM_001278732
Length:	362
RefSeq Status:

`MVVREKILDLVISCFKRHGAKGMDTPAFELKDFDIAGQFDPMIPDAECLKIMCEILSGLQLGDFLIKVNDRRIVDGMFAVCGVPESKFRAICSSIDKLDK MAWKDVRHEMVVKKGLAPEVADRIGDYVQCHGGVSLVEQMFQDPRLSQNKQALEGLGDLKLLFEYLTLFGIADKISFDLSLARGLDYYTGVIYEAVLLQT PTQAGEEPLNVGSVAAGGRYDGLVGMFDPKGHKVPCVGLSIGVERIFYIVEQRMKTKGEKVRTTETQVFVATPQKNFLQERLKLIAELWDSGIKAEMLYK NNPKLLTQLHYCESTGIPLVVIIGEQELKEGVIKIRSVASREEVAIKRENFVAEIQKRLSES`