Recombinant Human CEP104 Protein: Function & Research Use
Recombinant Human CEP104 Protein: Function & Research Use
Recombinant Human CEP104 Protein is a key research reagent enabling scientists to investigate the molecular mechanisms of ciliogenesis, centrosome function, and ciliopathy-related pathways in human cells.
- Protein Name
- Recombinant Human CEP104 Protein
- Also Known As
- Centrosomal Protein 104 kDa; CEP104; KIAA0622
- Biological Function
- Involved in ciliogenesis and cilia tip regulation; interacts with tubulin and cilia-associated proteins to regulate axonemal assembly
- Species Origin
- Human (Homo sapiens)
- Product SKU
- rp373694
- Research Area
- Cell biology, ciliopathies, centrosome biology, microtubule dynamics
What Is CEP104? Biological Background
CEP104, also known as Centrosomal Protein 104 kDa (gene name CEP104, formerly KIAA0622), is a highly conserved centrosomal and ciliary protein expressed in human tissues. It localizes to the distal end of centrioles and to the tips of primary cilia, where it plays a critical role in regulating cilia assembly and length control.
Structurally, CEP104 contains a coiled-coil domain that mediates protein–protein interactions and a TOG (Tumor Overexpressed Gene)-like domain associated with microtubule binding. Through these domains, CEP104 interacts with key ciliogenesis regulators including FOXJ1, TTBK2, and components of the intraflagellar transport (IFT) machinery, coordinating the sequential steps of axonemal assembly.
Loss-of-function mutations in CEP104 have been linked to Joubert syndrome, a recessive ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy, underscoring the protein's clinical importance. CEP104 is therefore a critical node connecting centrosome biology, cilia biogenesis, and human developmental disease.
Recombinant Human CEP104 Protein: Product Description & Properties
Aladdin Scientific's Recombinant Human CEP104 Protein (SKU: rp373694) is produced using a recombinant expression system to yield a highly pure preparation of the human CEP104 protein suitable for in vitro biochemical and cell biology research applications.
Researchers should consult the product datasheet for confirmed specifications including host expression system, tag information, molecular weight, purity grade (typically ≥85% or ≥90% by SDS-PAGE for research-grade recombinant proteins), formulation buffer, and recommended storage conditions. These parameters are critical for experimental planning and should be verified against the current certificate of analysis (CoA) supplied with each lot.
The protein is intended for research use only and is not approved for diagnostic or therapeutic applications. Proper handling, including avoidance of repeated freeze–thaw cycles and storage at the temperature specified in the datasheet, is essential to maintain activity and integrity.
Research Applications of CEP104 Recombinant Protein
Recombinant Human CEP104 Protein supports a broad range of research applications across cilia biology and related fields:
- Protein–Protein Interaction Studies: CEP104 can be used in pull-down assays, co-immunoprecipitation validation experiments, and surface plasmon resonance (SPR) studies to map its interactome with ciliogenesis regulators such as TTBK2, IFT-B complex components, and tubulin isoforms.
- Antibody Validation: Recombinant CEP104 serves as a positive control antigen for validating anti-CEP104 antibodies in Western blot, ELISA, and dot-blot formats, ensuring specificity before use in complex biological samples.
- Biochemical Characterization: In vitro microtubule cosedimentation assays and binding experiments can be performed to elucidate the microtubule-binding properties of CEP104's TOG-like domain.
- Ciliopathy Disease Modeling: As a tool to study Joubert syndrome and related ciliopathies, recombinant CEP104 enables investigation of pathogenic variants' effects on protein folding, stability, and interaction networks.
- Drug Discovery Screening: CEP104 may serve as a target or binding partner in screens aimed at modulating ciliary signaling pathways implicated in cancer, obesity, and developmental disorders.
Handling, Storage, and Experimental Considerations
To maintain the integrity and activity of Recombinant Human CEP104 Protein, researchers should observe the following best-practice guidelines:
- Storage: Store according to the conditions specified on the product datasheet and CoA, typically at −80 °C for long-term storage. Aliquot upon receipt to minimize freeze–thaw cycles.
- Reconstitution: If supplied lyophilized, reconstitute with the recommended diluent (commonly sterile water or PBS with a carrier protein such as BSA) as directed in the datasheet. Allow the vial to equilibrate to room temperature before opening.
- Freeze–Thaw Cycles: Limit freeze–thaw cycles to a maximum of 2–3 to prevent protein aggregation and loss of activity. Single-use aliquots are strongly recommended.
- Carrier Protein: For dilute working concentrations, inclusion of 0.1% BSA in the diluent helps prevent adsorption to tube surfaces and maintains protein stability.
- Experimental Controls: Always include appropriate positive and negative controls in assays. Verify protein integrity by SDS-PAGE or Western blot before critical experiments.
All handling should comply with your institution's biosafety guidelines. This product is for research use only.
Frequently asked questions
What is the biological function of CEP104?
CEP104 (Centrosomal Protein 104 kDa) localizes to the distal centriole and cilia tips, where it regulates ciliogenesis and axonemal assembly. It interacts with tubulin and ciliogenesis regulators such as TTBK2 and IFT complex components to control cilia length and assembly dynamics. Mutations in CEP104 are associated with Joubert syndrome, a recessive ciliopathy.
What applications is Recombinant Human CEP104 Protein suitable for?
Recombinant Human CEP104 Protein is suitable for protein–protein interaction studies (e.g., pull-down, co-IP, SPR), antibody validation (Western blot, ELISA), in vitro microtubule binding assays, ciliopathy disease modeling, and drug discovery screening targeting ciliary pathways. Please refer to the product datasheet for validated application details.
How should Recombinant Human CEP104 Protein be stored to maintain activity?
For optimal stability, store Recombinant Human CEP104 Protein at −80 °C for long-term storage and avoid repeated freeze–thaw cycles by preparing single-use aliquots upon receipt. Always follow the specific storage and reconstitution instructions provided on the product datasheet and certificate of analysis supplied with each lot.
Is CEP104 associated with any human disease?
Yes. Loss-of-function mutations in the CEP104 gene are associated with Joubert syndrome (JBTS), a rare autosomal recessive ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy. This disease association makes CEP104 a relevant target for ciliopathy research and for understanding the genotype–phenotype relationships in primary cilia disorders.
Can Recombinant Human CEP104 Protein be used for antibody validation?
Yes, recombinant CEP104 protein is well-suited for use as a positive control antigen when validating anti-CEP104 antibodies by Western blot, ELISA, or dot-blot assays. Using the recombinant protein ensures a defined, consistent antigen source that confirms antibody specificity prior to use in complex biological samples such as cell lysates or tissue sections.
References
- Mukhopadhyay S, Bhattacharyya T. CEP104 and ciliogenesis: structural and functional insights. (Placeholder — specific primary literature citation needed; flag for editorial review.)
- Roosing S, et al. Mutations in CEP104 cause Joubert syndrome. (Placeholder — specific journal, volume, pages, and year require verification against primary literature.)
- Loukil A, Barrington C, Jackson PK. Molecular and cellular functions of CEP104 at the primary cilium. (Placeholder — citation details require verification.)
Products are supplied for research and development use only. Not for use in humans, animals, diagnosis, or therapy.
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