CEP131: Centrosomal Protein 131 in Ciliogenesis and Disease
A comprehensive biomedical overview of CEP131, its role in centrosome function, cilia assembly, and associated disorders.
Gene Information Card
| Symbol | CEP131 |
|---|---|
| Full Name | centrosomal protein 131 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.1 |
| NCBI Gene ID | 22994 ncbi.nlm.nih.gov/gene/22994 |
| Ensembl ID | ENSG00000141577 |
| UniProt ID | Q9UPN4 |
| OMIM ID | 614523 |
| HGNC ID | 29590 |
| Aliases | KIAA1118, ZAKI-4, CEP131 |
Description
CEP131 encodes a centrosomal protein that localizes to the centrosome and is essential for primary cilium assembly. It interacts with other centrosomal and ciliary proteins to regulate ciliogenesis, cell cycle progression, and cellular signaling. Mutations in CEP131 are associated with ciliopathies including Joubert syndrome and retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss of CEP131 function disrupts ciliary signaling and cerebellar development | OMIM #614523; PMID: 25558065 |
| Retinal degeneration | CEP131 deficiency impairs photoreceptor cilia maintenance | PMID: 25558065 |
| Ciliopathy-related disorders | Defective ciliogenesis due to CEP131 mutations leads to multi-organ phenotypes | OMIM #614523 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Brain | 8.7 | Medium |
| Retina | 12.1 | High |
| Kidney | 6.4 | Medium |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression in embryonic kidney cells |
| HeLa | 12.3 | Moderate expression in cervical cancer cells |
| ARPE-19 | 14.7 | High expression in retinal pigment epithelium |
| SH-SY5Y | 9.8 | Moderate expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | Rare | Loss of function; truncation of CEP131 protein |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Likely damaging; disrupts centrosomal localization |
| c.1789_1790del (p.Leu597fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent CEP131 protein, impairing ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported for CEP131.
Dominant Negative (DN)
No dominant-negative mutations described; disease inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cilium assembly (GO:0060271) | • chordate embryonic development (GO:0043009) |
| • protein binding (GO:0005515) |
Pathways
• Ciliogenesis pathway (Reactome: R-HSA-5617833)
• Centrosome maturation and duplication (Reactome: R-HSA-380259)
Protein Summary
CEP131 is a 131 kDa centrosomal protein that localizes to the centrosome and basal body. It contains coiled-coil domains and interacts with other centrosomal components such as CEP290 and CEP162. CEP131 is required for the initiation of ciliogenesis and for the maintenance of ciliary structure. Its loss leads to defective cilia formation and is linked to ciliopathies including Joubert syndrome and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP131 Knockout HEK293 Cell Line | EDJ-KQ51074 | Human | 22994 | Details Get a Quote |
| CEP131 Knockout HeLa Cell Line | EDJ-KQ55669 | Human | 22994 | Details Get a Quote |
| CEP131 Knockout A-549 Cell Line | EDJ-KQ64168 | Human | 22994 | Details Get a Quote |
| CEP131 Knockout HCT 116 Cell Line | EDJ-KQ72612 | Human | 22994 | Details Get a Quote |
