| Primary Identifier | MGI:108087 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 15115 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; histidine-tRNA ligase activity; and protein homodimerization activity. Predicted to be involved in histidyl-tRNA aminoacylation and mitochondrial translation. Predicted to be located in cytoplasm. Predicted to be active in cytosol and mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease, axonal type 2W and Usher syndrome type 3B. Orthologous to human HARS1 (histidyl-tRNA synthetase 1). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit deafness. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
