GLI3

GLI family zinc finger 3

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000106571
UniProt:
P10071
OMIM:
165240
Synonyms:
ACLS, GCPS, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV

Cilia effects upon perturbation of GLI3

Cilia number / % ciliated:
No effect
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (5 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=2.36) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.38) PMID:41160700

Phenotypes

Human ciliopathy phenotype:
polydactyly, postaxial, type A1; preaxial polydactyly of fingers

Ciliopathy associations

  • Ellis-van Creveld Syndrome
  • Greig Cephalopolysyndactyly Syndrome
  • Pallister-Hall Syndrome
  • Postaxial Polydactyly

References: PMID:9054938, PMID:9302279, PMID:18435847, PMID:31399769, PMID:30445565, PMID:14608643, PMID:23633388, PMID:38531627, PMID:20301619, PMID:34828280, PMID:31573334, PMID:32495660, PMID:33339065, PMID:32566533, PMID:31325247, PMID:31010437, PMID:18241058, PMID:33058447, PMID:29368652, PMID:12794692, PMID:12575660, PMID:22043488, PMID:21296629, PMID:25714367, PMID:23776344, PMID:25606469, PMID:8387379, PMID:10441342, PMID:21326280, PMID:9520255, PMID:18154020, PMID:1322743, PMID:8001967, PMID:36411030, PMID:10770668, PMID:34424959

Subcellular localization

cilia, cytosol, nucleus

References: PMID:35803939

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Neurogenesis & migration
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Axon guidance & growth
  • ECM & connective tissue
  • Transcription regulation
  • Cilia length regulation

Function

Hedgehog signaling pathway effector. Loss of Polaris results in inefficient Gli3 processing. Inhibit Gli1- mediated transcription. The primary cilia length of Gli3∆/∆ satellite cells is shortened. Post-isolation, a comparable proportion of ciliated cells were found on freshly isolated myofibers from Gli3+/+ and Gli3∆/∆ mice. (35803939)