SPAG1

sperm associated antigen 1

Ensembl:
ENSG00000104450
UniProt:
Q07617
OMIM:
603395
Synonyms:
CILD28, CT140, DNAAF13, FLJ32920, HSD-3.8

Cilia effects upon perturbation of SPAG1

Ciliogenesis screen results (5 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.88) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.59, ciliated=57.4%) PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.79) PMID:20393562

Phenotypes

Human ciliopathy phenotype:
primary ciliary dyskinesia

Ciliopathy associations

  • Primary Ciliary Dyskinesia

Subcellular localization

cilia, microtubules, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Protein processing & maturation
  • Cell migration & adhesion

Function

Possible role in the cytoplasmic assembly and/or trafficking of the ciliary dynein arms. Mutations have been reported in patients with PCD with ODA and IDA defects, severe ciliary dysmotility and laterality defects (24055112).