Gene

hars

ID
ZDB-GENE-040912-152
Name
histidyl-tRNA synthetase
Symbol
hars Nomenclature History
Previous Names
  • im:7136719
  • zgc:92215 (1)
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to have ATP binding activity and histidine-tRNA ligase activity. Involved in regulation of vasculature development and sprouting angiogenesis. Localizes to mitochondrion. Is expressed in nervous system; optic cup; optic vesicle; and otic vesicle. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease, axonal type 2W; Perrault syndrome; and Usher syndrome type 3B. Orthologous to several human genes including HARS1 (histidyl-tRNA synthetase 1).
Genome Resources
Note
None
Expression
All Expression Data
4 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With hars Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease, axonal type 2W Alliance Charcot-Marie-Tooth disease, axonal, type 2W 616625
Perrault syndrome Alliance ?Perrault syndrome 2 614926
Usher syndrome type 3B Alliance Usher syndrome type 3B 614504
Associated With hars Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000738 WHEP-TRS domain
Domain IPR004154 Anticodon-binding
Domain IPR006195 Aminoacyl-tRNA synthetase, class II
Domain IPR033656 Histidyl-anticodon-binding
Domain IPR041715 Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain
Family IPR004516 Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit
Family IPR015807 Histidine-tRNA ligase
Homologous_superfamily IPR009068 S15/NS1, RNA-binding
Homologous_superfamily IPR036621 Anticodon-binding domain superfamily
Domain Details Per Protein
Protein Length Aminoacyl-tRNA synthetase, class II Anticodon-binding Anticodon-binding domain superfamily Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain Histidine-tRNA ligase Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit Histidyl-anticodon-binding S15/NS1, RNA-binding WHEP-TRS domain
UniProtKB:Q66HY3 437
UniProtKB:E9QI36 513
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations