PAX7

paired box 7

Ensembl:
ENSG00000009709
UniProt:
P23759
OMIM:
167410
Synonyms:
HUP1

Cilia effects upon perturbation of PAX7

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.14) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.35, ciliated=55.7%) PMID:26595381

Phenotypes

Mouse phenotype:
decreased circulating triglyceride level, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

Myf5-Arl3-/- mice develop grossly the same as WT mice. Intriguingly, mechanical stimulation-induced muscle hypertrophy or myoblast differentiation is abrogated in Myf5-Arl3-/- and Pax7-Arl3-/- mice or primary isolated Myf5-Arl3-/- and Pax7-Ift88-/- myoblasts, likely due to defective cilia-mediated Hedgehog (Hh) sig ling ( 35671424).

Model organism evidence

Mus musculus (1 reference)

To determine mechanical sensors for exercise-induced muscle hypertrophy, we established three SC-specific cilium dysfunctional mouse models-Myogenic factor 5 (Myf5)-Arf-like Protein 3 (Arl3)-/-, Paired box protein Pax-7 (Pax7)-Intraflagellar transport protein 88 homolog (Ift88)-/-, and Pax7-Arl3

PMIDs: 35671424