GLI1

GLI family zinc finger 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000111087
UniProt:
P08151
OMIM:
165220
Synonyms:
GLI

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.07) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.98) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=11, lfc=-1.94) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
polydactyly, postaxial, type A8; polydactyly of a biphalangeal thumb

Ciliopathy associations

  • Ellis-van Creveld Syndrome
  • Polycystic Kidney Disease
  • Postaxial Polydactyly

References: PMID:33012205, PMID:35927022, PMID:28973407

Subcellular localization

basal body, cilia, cytosol, nucleus, ciliary tip

References: PMID:41005307, PMID:21209912

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development

Function

Hedgehog signaling pathway effector. GLI1 activation depends on cilia.