SP5

Sp5 transcription factor

Ensembl:
ENSG00000204335
UniProt:
Q6BEB4
OMIM:
609391

Cilia effects upon perturbation of SP5

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

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.08) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased hematocrit, decreased fasting circulating glucose level, hyperactivity, increased grip strength, increased vertical activity, abnormal vibrissa morphology
Mouse ciliopathy phenotype:
increased circulating alanine transamise level

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Transcription regulation

Function

TFs SP5 and SP8 regulate cilia formation and gene expression. In embryos lacking Sp5 and Sp8, primary and motile cilia were shorter than normal and reduced in number across cell types, contributing to situs inversus and hydrocephalus(PMID: 40875857). SP5 knockout mice show shorter and fewer primary and motile cilia; contributes to situs inversus and hydrocephalus. SP5 regulates cilia formation and gene expression as a transcription factor.

Model organism evidence

Mus musculus (2 references)

Transcription factors SP5 and SP8 drive primary cilia formation in mammalian embryos.

Transcription factors SP5 and SP8 drive primary cilia formation.

PMIDs: 40875857, 40501818