Homo sapiens Protein: HARS2
Summary
InnateDB Protein IDBP-49401.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HARS2
Protein Name histidyl-tRNA synthetase 2, mitochondrial (putative)
Synonyms HARSL; HARSR; HO3; PRLTS2;
Species Homo sapiens
Ensembl Protein ENSP00000230771
InnateDB Gene IDBG-49399 (HARS2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Mitochondrion matrix {ECO:0000250}.
Disease Associations Perrault syndrome 2 (PRLTS2) [MIM:614926]: A sex- influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269PubMed:21464306}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004821 histidine-tRNA ligase activity
GO:0005524 ATP binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006427 histidyl-tRNA aminoacylation
GO:0010467 gene expression
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR002314 Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain
IPR004154 Anticodon-binding
IPR004516 Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit
IPR006195 Aminoacyl-tRNA synthetase, class II
IPR015807 Histidine-tRNA ligase
PFAM PF00587
PF03129
PRINTS
PIRSF PIRSF001549
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P49590
PhosphoSite PhosphoSite-P49590
TrEMBL
UniProt Splice Variant
Entrez Gene 23438
UniGene Hs.432560
RefSeq NP_036340
HUGO HGNC:4817
OMIM 600783
CCDS CCDS4238
HPRD 02871
IMGT
EMBL AC116353 AK293390 BC007680 BC014982 CH471062 U18936 U18937
GenPept AAA73972 AAA73974 AAH07680 AAH14982 BAG56899 EAW62019