SPICE1
Spindle and Centriole Associated Protein 1
Gene Information Card
| Symbol | SPICE1 |
|---|---|
| Full Name | Spindle and Centriole Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 152185 ncbi.nlm.nih.gov/gene/152185 |
| Ensembl ID | ENSG00000163681 |
| UniProt ID | Q8N0Z3 |
| OMIM ID | 614864 |
| HGNC ID | 29393 |
| Aliases | C3orf52, FLJ22174 |
Description
SPICE1 encodes a protein involved in centriole duplication and mitotic spindle assembly. It localizes to centrosomes and is required for proper ciliogenesis and cell cycle progression. Mutations in SPICE1 are associated with autosomal recessive primary microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly (MCPH) | Loss-of-function mutations impair centriole duplication, reducing neural progenitor cell proliferation | PMID: 27545620, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Lung | 6.1 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| U2OS | 8.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37*) | Nonsense | Rare | Loss of function; truncation |
| c.487_488del (p.Leu163Valfs*2) | Frameshift | Rare | Loss of function; premature stop |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Likely damaging; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature termination, leading to loss of centriole duplication function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • centriole replication (GO:0007099) | • centrosome (GO:0005813) |
| • microtubule binding (GO:0008017) | • cell division (GO:0051301) |
Pathways
• Centrosome maturation and duplication
• Ciliogenesis
Protein Summary
SPICE1 is a 680-amino-acid protein that localizes to centrosomes and interacts with centriolar proteins such as CEP120 and CPAP. It promotes procentriole elongation and is essential for primary cilium formation. Loss of SPICE1 leads to centriole duplication defects and microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPICE1 Knockout HEK293 Cell Line | EDJ-KQ11384 | Human | 152185 | Details Get a Quote |
| SPICE1 Knockout A-549 Cell Line | EDJ-KQ39586 | Human | 152185 | Details Get a Quote |
| SPICE1 Knockout HCT 116 Cell Line | EDJ-KQ39587 | Human | 152185 | Details Get a Quote |
| SPICE1 Knockout HeLa Cell Line | EDJ-KQ39588 | Human | 152185 | Details Get a Quote |
