PTTG1

PTTG1 regulator of sister chromatid separation, securin

Ensembl:
ENSG00000164611
UniProt:
O95997
OMIM:
604147
Synonyms:
EAP1, ECRAR, HPTTG, PTTG, SECURIN

Cilia effects upon perturbation of PTTG1

Ciliogenesis screen results (4 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
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.36) PMID:41160700

Phenotypes

Mouse phenotype:
hypoplasia, preweaning lethality, incomplete penetrance, osteopenia, increased circulating triglyceride level, increased grip strength, abnormal semil vesicle morphology, small spleen
Mouse ciliopathy phenotype:
increased circulating creatinine level, small testis, small kidney

Subcellular localization

cilia, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

PTTG1 is a microtubule-associated protein that is a positive regulator of SHH sig ling, rendering the pathway more resilient to disturbances, and PTTG1 is a component of primary cilia in the neuroepithelium(34463328).

Model organism evidence

Mus musculus (1 reference)

Pathogenic gene variants in humans that affect the sonic hedgehog (SHH) pathway lead to severe brain malformations with variable penetrance due to unknown modifier genes.

PMIDs: 34463328