STIL

Chr 1p33

STIL centriolar assembly protein

Aliases:: MCPH7
MANE:: ENST00000371877.8

OMIM: 181590 ↗NCBI: 6491 ↗Ensembl ↗

Annotations refreshed 11 hours ago.

Predicted protein structure

AlphaFold predicted structure

STIL · Q15468

v62025-08-01

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

Mean pLDDT

53.8/ 100

Low

1,287 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)13%
Low(50–70)8%
Very low(< 50)60%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive primary microcephaly
0.77
Primary microcephaly
0.46
T-cell acute lymphoblastic leukemia
0.37
lobar holoprosencephaly
0.37
T-lymphoblastic lymphoma
0.37
primary cutaneous T-cell non-Hodgkin lymphoma
0.37
alobar holoprosencephaly
0.37
midline interhemispheric variant of holoprosencephaly
0.37
semilobar holoprosencephaly
0.37
peripheral T-cell lymphoma, not otherwise specified
0.37

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

Protein function (UniProt)

SCL-interrupting locus protein

Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CPAP to the base of the procentriole to initiate procentriole assembly (PubMed:22020124). In complex with STIL acts as a modulator of PLK4-driven cytoskeletal rearrangements and directional cell motility (PubMed:29712910, PubMed:32107292)