CFAP57

cilia and flagella associated protein 57

Ensembl:
ENSG00000243710
UniProt:
Q96MR6
OMIM:
614259
Synonyms:
FLJ32000, WDR65

Cilia effects upon perturbation of CFAP57

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal skeletal muscle morphology, abnormal spil cord morphology, acute inflammation, decreased exploration in new environment
Mouse ciliopathy phenotype:
abnormal brain morphology, hydrocephaly, hydrocephalus, male infertility

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia

Functional category

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

Function

Also known as WDR65. Required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomo s. In normal human sal epithelial cells, CFAP57 localizes throughout the ciliary axoneme. Homozygous nonsense variant found in one PCD case (32764743)

Model organism evidence

Mus musculus (3 references)

(#)Contributed equally BACKGROUND: CFAP57 is essential for the development and function of sperm flagella, as it is required for the assembly and stability of the inner dynein arm (IDA) that drive sperm motility.

Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.

PMIDs: 41793497, 41466333, 36752199

Drosophila (1 reference)

Here, we describe and examine the genetic requirements for missing minor mitochondria (mmm), sterile affecting ciliogenesis (sac), and testes of unusual size (tous), three previously uncharacterized genes in Drosophila that are predicted to be components of the flagellar axoneme.

PMIDs: 34822845