InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HARS

Summary

InnateDB Protein

IDBP-479783.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HARS

Protein Name

histidyl-tRNA synthetase

Synonyms

HRS; USH3B;

Species

Homo sapiens

Ensembl Protein

ENSP00000425634

InnateDB Gene

IDBG-49355 (HARS)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cytoplasm.

Disease Associations

Usher syndrome 3B (USH3B) [MIM:614504]: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. {ECO:0000269PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=HARS mutations may be involved in peripheral neuropathy, a disease mainly characterized by distal motor and sensory dysfunction. Inherited peripheral neuropathies are clinically and genetically heterogeneous with variable age of onset and reduced penetrance associated with specific loci. HARS mutations may directly predispose patients to peripheral neuropathy or may modify a peripheral neuropathy phenotype by contributing to the genetic and environmental load in a given patient (PubMed:22930593). {ECO:0000269PubMed:22930593}.

Tissue Specificity

Brain, heart, liver and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.

Experimentally validated
Total	34 [view]
Protein-Protein	32 [view]
Protein-DNA	2 [view]
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

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:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000738 WHEP-TRS
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
IPR009068 S15/NS1, RNA-binding
IPR015807 Histidine-tRNA ligase

PFAM

PF00458
PF00587
PF03129

PRINTS

PIRSF

PIRSF001549

SMART

SM00991

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt