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Literature summary for 6.1.1.21 extracted from

  • Pierce, S.B.; Chisholm, K.M.; Lynch, E.D.; Lee, M.K.; Walsh, T.; Opitz, J.M.; Li, W.; Klevit, R.E.; King, M.C.
    Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome (2011), Proc. Natl. Acad. Sci. USA, 108, 6543-6548.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expression of C-terminally epitope-tagged wild-type and mutant HARS2 in 293T cells mitochondria Homo sapiens

Protein Variants

Protein Variants Comment Organism
L200V naturally occuring mutations in HARS2 involved in the Perrault syndrome, the mutant shows reduced activity compared to wild-type enzyme Homo sapiens
additional information identification of a deletion mutant HARS2 DELTA200-211, probably involved in the Perrault syndrome, that is not stably expressed in mammalian mitochondria, its also shows no dimerization Homo sapiens
additional information RNAi-dependent downregulation of hars-1, embryos from wild-type animals are laid onto bacteria expressing double-stranded RNA and the progeny are exposed to RNAi throughout development Caenorhabditis elegans
V368L naturally occuring mutations in HARS2 involved in the Perrault syndrome, the mutant shows reduced activity compared to wild-type enzyme Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
Homo sapiens 5739
-
mitochondrion
-
Caenorhabditis elegans 5739
-

Organism

Organism UniProt Comment Textmining
Caenorhabditis elegans
-
Hars-1 is the single histidyl tRNA synthetase gene
-
Homo sapiens
-
-
-

Subunits

Subunits Comment Organism
homodimer HARS2 functions in vivo as a homodimer, HARS2 structure analysis, overview Homo sapiens

Synonyms

Synonyms Comment Organism
HARS1
-
Caenorhabditis elegans
HARS2
-
Homo sapiens
histidyl tRNA synthetase
-
Homo sapiens
histidyl tRNA synthetase
-
Caenorhabditis elegans
mitochondrial histidyl tRNA synthetase
-
Homo sapiens
mitochondrial histidyl tRNA synthetase
-
Caenorhabditis elegans

Expression

Organism Comment Expression
Caenorhabditis elegans hars-1 RNAi-dependent downregulation of hars-1 decreases brood size in both wild-type and ced-4(n1162) mutants, but less severely in ced-4(n1162) mutants down

General Information

General Information Comment Organism
malfunction the loss of fertility caused by hars-1 RNAi is partially mediated by apoptosis. Complete loss of hars-1 using the hars-1(tm4074) null allele. Homozygous hars-1 (tm4074) animals arrest development as L2 larvae, as determined by overall body size and by extent of gonad development, overview Caenorhabditis elegans
physiological function hars-1 activity is required in Caenorhabditis elegans for fertility and proper germ cell development Caenorhabditis elegans