GLI1

Chr 12q13.3

GLI family zinc finger 1

MANE:: ENST00000228682.7

OMIM: 165220 ↗NCBI: 2735 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GLI1 · P08151

v62025-08-01

Predicted Aligned Error matrix for GLI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

45.5/ 100

Very low

1,106 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)80%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

polydactyly, postaxial, type A8
0.69
polydactyly of a biphalangeal thumb
0.59
Ellis-van Creveld syndrome
0.37
Ellis Van Creveld syndrome
0.37
postaxial polydactyly type A
0.37
postaxial polydactyly type B
0.37
preaxial polydactyly of fingers
0.37
injury
0.26
leiomyosarcoma
0.23
breast carcinoma
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transcription activator GLI1

Transcription activator that acts as a key effector of the smoothened signaling pathway, and which plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract (PubMed:10806483, PubMed:11238441, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597, PubMed:28973407). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:2832761, PubMed:8378770). Activated in response to smoothened signaling: in presence of hedgehog (DHH, IHH or SHH) and subsequent activation of smoothened, GLI1 translocates to the nucleus and promotes expression of target genes (PubMed:2105456). In contrast to GLI2 and GLI3, does not contain a repressor domain and only acts as a transcription activator (PubMed:10075717)