STIL Gene (SCL/TAL1 Interrupting Locus)
Centrosomal protein involved in cell division and associated with microcephaly and cancer
Gene Information Card
| Symbol | STIL |
|---|---|
| Full Name | SCL/TAL1 interrupting locus |
| Gene Type | Protein coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 6491 ncbi.nlm.nih.gov/gene/6491 |
| Ensembl ID | ENSG00000123473 |
| UniProt ID | Q15468 |
| OMIM ID | 181590 |
| HGNC ID | 10879 |
| Aliases | MCPH7, SIL, TAL1 interrupting locus |
Description
STIL (SCL/TAL1 interrupting locus) encodes a centrosomal protein essential for centrosome duplication and cell cycle progression. It is required for procentriole formation and interacts with PLK4 and CEP152. Mutations in STIL cause autosomal recessive primary microcephaly type 7 (MCPH7). Overexpression and rearrangements of STIL are associated with various cancers, including T-cell acute lymphoblastic leukemia (T-ALL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 7 (MCPH7) | Loss-of-function mutations impair centrosome duplication, leading to reduced neuronal progenitor cell proliferation | OMIM #612703; PMID: 19592204 |
| T-cell acute lymphoblastic leukemia (T-ALL) | Rearrangement with TAL1 (SIL-TAL1 fusion) leads to aberrant TAL1 expression and leukemogenesis | COSMIC; PMID: 1282669 |
| Breast cancer | STIL overexpression correlates with centrosome amplification and aneuploidy | PMID: 21220411 |
| Hepatocellular carcinoma | Upregulation of STIL promotes cell proliferation and tumor growth | PMID: 28925395 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 10.8 | Medium |
| Lymph node | 9.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 12.5 | High expression |
| HeLa (cervical) | 9.8 | Medium expression |
| HepG2 (liver) | 7.2 | Medium expression |
| A549 (lung) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365A>T (p.Asp122Val) | Missense | Rare | Loss of function; associated with MCPH7 |
| c.1192delC (p.Arg398Alafs*5) | Frameshift | Rare | Loss of function; associated with MCPH7 |
| SIL-TAL1 fusion | Rearrangement | Recurrent in T-ALL | Gain of function; drives TAL1 expression |
| c.208C>T (p.Arg70Trp) | Missense | Unknown | Likely loss of function; reported in microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations in the N-terminal region impair centrosome duplication, leading to microcephaly.
Gain of Function (GOF)
SIL-TAL1 fusion results in ectopic TAL1 expression, promoting leukemogenesis.
Dominant Negative (DN)
Not well documented; most pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome duplication (GO:0051298) | • Centriole replication (GO:0007099) |
| • Protein binding (GO:0005515) | • Cell cycle (GO:0007049) |
| • Cytoplasm (GO:0005737) | • Centrosome (GO:0005813) |
Pathways
• Centrosome duplication pathway
• Cell cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115) - indirect
Protein Summary
STIL is a 1287-amino-acid protein (UniProt Q15468) localized to the centrosome. It contains a conserved N-terminal domain required for interaction with PLK4 and CEP152, and a C-terminal STAN motif essential for centriole duplication. STIL is phosphorylated during the cell cycle and is degraded after mitosis. Its expression is tightly regulated; overexpression leads to centrosome amplification and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STIL Knockout HEK293 Cell Line | EDJ-KQ50631 | Human | 6491 | Details Get a Quote |
| STIL Knockout HeLa Cell Line | EDJ-KQ54470 | Human | 6491 | Details Get a Quote |
| STIL Knockout A-549 Cell Line | EDJ-KQ62956 | Human | 6491 | Details Get a Quote |
| STIL Knockout HCT 116 Cell Line | EDJ-KQ71429 | Human | 6491 | Details Get a Quote |
