Primary Identifier | MGI:97838 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 107508 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables proline-tRNA ligase activity. Involved in several processes, including cellular response to insulin stimulus; prolyl-tRNA aminoacylation; and regulation of long-chain fatty acid import into cell. Located in plasma membrane. Part of aminoacyl-tRNA synthetase multienzyme complex. Is expressed in several structures, including alimentary system; axial skeleton; cerebellum; craniocervical region bone; and liver. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 15. Orthologous to human EPRS1 (glutamyl-prolyl-tRNA synthetase 1). PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit normal body weight, life span and glucose metabolism. Mice homozygous for a phospho-deficient allele exhibit decreased body weight, enhanced lipolysis, altered glucose metabolism and increased energy expenditure. [provided by MGI curators] |