CEP170: Centrosomal Protein 170
A centrosome-associated protein involved in microtubule organization and cell cycle regulation.
Gene Information Card
| Symbol | CEP170 |
|---|---|
| Full Name | Centrosomal Protein 170 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 9859 ncbi.nlm.nih.gov/gene/9859 |
| Ensembl ID | ENSG00000143702 |
| UniProt ID | Q5SW79 |
| OMIM ID | 617642 |
| HGNC ID | 28920 |
| Aliases | CEP170L, FAM68A, KAB1 |
Description
CEP170 encodes a centrosomal protein of 170 kDa that localizes to the centrosome and is involved in microtubule organization, cell cycle progression, and ciliary function. It interacts with microtubule-associated proteins and is required for proper mitotic spindle orientation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | CEP170 mutations may disrupt centrosome integrity and spindle orientation, contributing to genomic instability and tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Primary microcephaly | Loss-of-function variants in CEP170 are associated with reduced brain size and impaired neurogenesis. | ClinVar and OMIM entries list pathogenic variants linked to microcephaly. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.3 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HEK 293 | 10.1 | Embryonic kidney cells |
| A549 | 8.9 | Lung carcinoma cell line |
| MCF7 | 7.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% (gnomAD) | Loss of function; predicted to cause nonsense-mediated decay. |
| c.2567A>G (p.Asn856Ser) | Missense | 0.01% (COSMIC) | Unknown; reported in colorectal cancer. |
| c.3456_3457del (p.Glu1152fs) | Frameshift | 0.005% (ClinVar) | Loss of function; associated with microcephaly. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants in CEP170 lead to truncated or absent protein, impairing centrosome function and microtubule organization.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CEP170.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • microtubule organizing center (GO:0005815) |
| • microtubule binding (GO:0008017) | • cell division (GO:0051301) |
| • microtubule cytoskeleton organization (GO:0000226) |
Pathways
• Centrosome maturation and duplication
• Microtubule cytoskeleton regulation
• Cell cycle
• mitotic
Protein Summary
CEP170 is a 170 kDa centrosomal protein that localizes to the centrosome throughout the cell cycle. It binds microtubules and is essential for spindle pole integrity, mitotic progression, and primary cilium assembly. The protein contains a conserved CEP170 domain and interacts with other centrosomal components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP170 Knockout HEK293 Cell Line | EDJ-KQ6787 | Human | 9859 | Details Get a Quote |
| CEP170B Knockout HEK293 Cell Line | EDJ-KQ12872 | Human | 283638 | Details Get a Quote |
| CEP170B Knockout A-549 Cell Line | EDJ-KQ42048 | Human | 283638 | Details Get a Quote |
| CEP170B Knockout HCT 116 Cell Line | EDJ-KQ42049 | Human | 283638 | Details Get a Quote |
| CEP170 Knockout A-549 Cell Line | EDJ-KQ31258 | Human | 9859 | Details Get a Quote |
| CEP170 Knockout HCT 116 Cell Line | EDJ-KQ31259 | Human | 9859 | Details Get a Quote |
| CEP170 Knockout HeLa Cell Line | EDJ-KQ31260 | Human | 9859 | Details Get a Quote |
| CEP170B Knockout HeLa Cell Line | EDJ-KQ40800 | Human | 283638 | Details Get a Quote |
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