EML1

EMAP like 1

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000066629
OMIM:
602033
Synonyms:
ELP79, EMAP, EMAPL, HUEMAP

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:31390572

Functional category

  • Non-motile cilium / primary cilium
  • Trafficking (BBSome
  • small GTPases
  • vesicular transport
  • ATPases)
  • Cilia–cytoskeleton/adhesion links

Function

We pinpoint an unknown EML1/Eml1 function in primary cilium formation. In HeCo aRGs, cilia are shorter, less numerous, and often found aberrantly oriented within vesicles. Patient fibroblasts and human cortical progenitors show similar defects. EML1 interacts with RPGRIP1L, a ciliary protein, and RPGRIP1L mutations were revealed in a heterotopia patient. We also identify Golgi apparatus abnormalities in EML1/Eml1 mutant cells, potentially upstream of the cilia phenotype. We thus reveal primary cilia mechanisms impacting aRG dynamics in physiological and pathological conditions(31390572).