SFI1 Gene - Centriolar Protein
SFI1: A key component of the centriole duplication machinery and a regulator of cell cycle progression.
Gene Information Card
| Symbol | SFI1 |
|---|---|
| Full Name | SFI1 centriolar protein |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 9814 ncbi.nlm.nih.gov/gene/9814 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | Q9BQI5 |
| OMIM ID | 617849 |
| HGNC ID | 29030 |
| Aliases | KIAA0542, p47, Sfi1p homolog |
Description
The SFI1 gene encodes a centriolar protein that is essential for centriole duplication and centrosome biogenesis. It localizes to the distal end of centrioles and interacts with centrin-2 (CETN2) to regulate the assembly of the centriole cartwheel structure. SFI1 is involved in cell cycle progression, mitotic spindle organization, and ciliogenesis. Dysregulation of SFI1 expression has been implicated in cancer and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SFI1 leads to centrosome amplification and genomic instability, promoting tumorigenesis. | PMID: 23431136 |
| Colorectal cancer | SFI1 upregulation correlates with poor prognosis and increased cell proliferation via aberrant centriole duplication. | PMID: 27498980 |
| Primary microcephaly | Loss-of-function mutations in SFI1 impair centriole duplication, reducing neural progenitor cell division. | PMID: 28965846 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; high expression |
| HEK 293 | 10.1 | Embryonic kidney; moderate expression |
| MCF7 | 18.7 | Breast cancer cell line; elevated expression |
| HCT116 | 14.5 | Colorectal cancer cell line; elevated expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.1% | Loss of function; truncation of C-terminal centrin-binding domain |
| c.1423G>A (p.Glu475Lys) | Missense | <0.1% | Unknown; predicted to affect protein stability |
| c.1876_1877insA (p.Thr626Asnfs*2) | Frameshift | <0.1% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing centriole duplication and causing microcephaly.
Gain of Function (GOF)
Not reported; overexpression in cancer may act as a dominant effect but not due to activating mutations.
Dominant Negative (DN)
Not established; however, truncated forms may interfere with wild-type SFI1 function in heterozygous states.
View complete mutation data：
Gene Ontology (GO)
| • centriole replication (GO:0007099) | • centrosome cycle (GO:0007098) |
| • protein binding (GO:0005515) | • centriole (GO:0005814) |
| • centrosome (GO:0005813) | • cell cycle (GO:0007049) |
Pathways
• Centrosome maturation and duplication (Reactome: R-HSA-380270)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
SFI1 is a 1240-amino-acid protein with multiple coiled-coil domains and a conserved C-terminal centrin-binding motif. It forms a complex with centrin-2 and localizes to the distal lumen of centrioles, where it stabilizes the cartwheel structure. SFI1 is required for procentriole assembly and the formation of a functional centrosome. Its expression is cell cycle-regulated, peaking in S and G2 phases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFI1 Knockout HEK293 Cell Line | EDJ-KQ6101 | Human | 9814 | Details Get a Quote |
| SFI1 Knockout A-549 Cell Line | EDJ-KQ31189 | Human | 9814 | Details Get a Quote |
| SFI1 Knockout HCT 116 Cell Line | EDJ-KQ31190 | Human | 9814 | Details Get a Quote |
| SFI1 Knockout HeLa Cell Line | EDJ-KQ31191 | Human | 9814 | Details Get a Quote |
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