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.