EPRS1
glutamyl-prolyl-tRNA synthetase 1
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000136628
- UniProt:
- P07814
- OMIM:
- 138295
- Synonyms:
- EARS, EPRS, GLUPRORS, PARS, QARS, QPRS
Phenotypes
- Mouse phenotype:
- preweaning lethality, complete penetrance, abnormal lung morphology, decreased prepulse inhibition, abnormal embryo size, embryonic lethality prior to tooth bud stage, embryonic lethality prior to organogenesis
Subcellular localization
flagella
References: PMID:25613900
Functional category
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Transcription regulation
Function
EPRS1 has localized in flagella.