INSC (INSC Spindle Orientation Adaptor Protein)
Gene encoding a protein involved in asymmetric cell division and spindle orientation
Gene Information Card
| Symbol | INSC |
|---|---|
| Full Name | INSC spindle orientation adaptor protein |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 387755 ncbi.nlm.nih.gov/gene/387755 |
| Ensembl ID | ENSG00000188580 |
| UniProt ID | Q8N5M9 |
| OMIM ID | 615969 |
| HGNC ID | 28889 |
| Aliases | FLJ32709, INSCL, MGC16384 |
Description
The INSC gene encodes the INSC spindle orientation adaptor protein, a key regulator of asymmetric cell division. It functions as a scaffold linking the Par3 complex to the NuMA-dynein complex at the cell cortex, thereby controlling mitotic spindle orientation. INSC is essential for proper neurogenesis, epithelial morphogenesis, and stem cell maintenance. Dysregulation of INSC expression or function has been implicated in developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, primary, autosomal recessive | Loss-of-function mutations impair spindle orientation in neural progenitors, reducing cortical neuron production | PMID: 27866746 |
| Cancer (breast, lung, colorectal) | Overexpression or mislocalization disrupts asymmetric division, promoting tumorigenesis and metastasis | PMID: 25961457, PMID: 28431213 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.7 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 8.9 | Moderate expression |
| MCF7 | 6.4 | Low expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.742C>T (p.Arg248*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg248*) lead to truncated protein, impairing spindle orientation.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cell cortex (GO:0005938) |
| • cell differentiation (GO:0030154) | • regulation of cytokinesis (GO:0032465) |
| • cell division (GO:0051301) | • metaphase plate congression (GO:0051310) |
| • regulation of spindle orientation (GO:0090224) |
Pathways
• Asymmetric cell division (REACT: R-HSA-1500931)
• Spindle orientation (REACT: R-HSA-8854518)
Protein Summary
The INSC protein (UniProt Q8N5M9) is a 668-amino acid adaptor that localizes to the cell cortex during mitosis. It contains an N-terminal region that binds Par3 and a C-terminal region that interacts with NuMA and dynein. This complex ensures proper alignment of the mitotic spindle with the polarity axis, critical for asymmetric cell division. INSC is highly expressed in neural progenitors and is downregulated upon differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSC Knockout HEK293 Cell Line | EDJ-KQ13844 | Human | 387755 | Details Get a Quote |
| INSC Knockout HeLa Cell Line | EDJ-KQ59989 | Human | 387755 | Details Get a Quote |
| INSC Knockout A-549 Cell Line | EDJ-KQ68451 | Human | 387755 | Details Get a Quote |
| INSC Knockout HCT 116 Cell Line | EDJ-KQ76828 | Human | 387755 | Details Get a Quote |
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