CFAP47

cilia and flagella associated protein 47

Ensembl:
ENSG00000165164
UniProt:
Q6ZTR5
OMIM:
301057
Synonyms:
CHDC2, CXORF22, CXORF30, CXORF59, FLJ36601

Cilia effects upon perturbation of CFAP47

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Phenotypes

Mouse phenotype:
abnormal eyelid morphology, decreased spleen weight, decreased lean body mass, increased total body fat amount

Ciliopathy associations

  • Male Infertility
  • Primary Ciliary Dyskinesia
  • Polycystic Kidney Disease

Subcellular localization

flagella

Functional category

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

Function

Hemizygous mutations in CFAP47 can induce X-linked multiple morphological abnormalities of the flagella and asthenoteratozoospermia in humans and mice. Expressed in spermatozoa, but exact localisation not known (33472045)

Model organism evidence

Mus musculus (2 references)

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

WDR87 interacts with CFAP47 protein in the middle piece of spermatozoa flagella to participate in sperm tail assembly.

PMIDs: 37424856, 36571501