EFHC1

EF-hand domain containing 1

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:15258581

Subcellular localization

cilia, flagella

References: PMID:15670853

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm
Cell migration & adhesion

Function

Western blot analyses 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).

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