SPAG6

sperm associated antigen 6

Ensembl:
ENSG00000077327
UniProt:
O75602
OMIM:
605730
Synonyms:
CFAP194, CT141, FAP194, PF16, REPRO-SA-1

Cilia effects upon perturbation of SPAG6

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

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia, nucleus

Functional category

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

Function

Orthologue of Chlamydomo s PF16. Axoneme central apparatus protein, essential for sperm flagellar motility and motility of ependymal cilia, as well as mainte nce of the structural integrity of the sperm flagella by serving as a scaffold protein (12167721). Role in ciliogenesis, axoneme orientation, and cell polarity. Spag6-deficient epithelial cells in the brain and trachea lose rotatio l polarity and Spag6-eficient mice suffer hydrocephalus and are sterile because of sperm motility defects (25333478). Mutated in PCD with male infertility with severe asthenoteratospermia (32124190)

Model organism evidence

Mus musculus (1 reference)

Mouse sperm-associated antigen 6-like (SPAG6L) evolved from SPAG6, the mammalian ortholog of Chlamydomonas PF16, which is localized in the central apparatus of the motile cilia and is essential for ciliary motility.

PMIDs: 40497959