EFHC1

EF-hand domain containing 1

Ensembl:
ENSG00000096093
UniProt:
Q5JVL4
OMIM:
608815
Synonyms:
EJM, EJM1, FLJ10466, POC9, RIB72

Cilia effects upon perturbation of EFHC1

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

cilia, flagella

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Western blot a lyses and immunofluorescence localization of the mouse ortholog mRib72-1/Efhc1 indicated that it is indeed abundantly present in sperm flagella and tracheal cilia but only in a small amount in the brain. It is not present in immotile primary cilia (15670853).

Model organism evidence

Mus musculus (4 references)

Myoclonin1 haploinsufficiency in motile ciliated cells partially recapitulates epileptic features of Efhc1-deficient mice in adult age.

Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.

PMIDs: 42000019, 33328576, 23213475, 20937855

C. elegans (1 reference)

To shed light into their functions, we studied EFHC1, an evolutionarily conserved protein required for motile cilia function and linked to a common form of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME).

PMIDs: 30810526

Xenopus (1 reference)

Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling.

PMIDs: 26783883

Danio rerio (1 reference)

foxj1a-deficient embryos failed to up-regulate efhc1, tektin-1, and dnahc9 and could not maintain enhanced cilia beat rates after obstruction, identifying an essential role for foxj1 in modulating cilia function after injury.

PMIDs: 20937855