SPEF1

sperm flagellar 1

Ensembl:: ENSG00000101222
UniProt:: Q9Y4P9
OMIM:: 610674
Synonyms:: C20ORF28, CLAMP, DKFZP434I114, SPEF1A

Cilia effects upon perturbation of SPEF1

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.52) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: preweaning lethality, incomplete penetrance

Subcellular localization

basal body, cilia, flagella

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm

Function

Also known as CLAMP. Regulator of PCP sig ling, via localisation of asymmetric PCP components and regulates asymmetric microtubule accumulation. Required for proper PCP- dependent establishment of cilia polarity (29514918). Microtubule- bundling protein, and central pair MT regulator highly expressed in 9 + 2 mammalian cilia. Essential for the assembly and functions of central pair MTs, central pair apparatus, and for ciliary retentions of other central pair proteins such as Spag6 and Hydin (30535028).

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