CIMAP1B (Cilia and Microtubule Associated Protein 1B)
A microtubule-associated protein implicated in ciliary function and potential cancer relevance
Gene Information Card
| Symbol | CIMAP1B |
|---|---|
| Full Name | Cilia and Microtubule Associated Protein 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 (GRCh38) |
| NCBI Gene ID | 152789 ncbi.nlm.nih.gov/gene/152789 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8N7P3 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33755 |
| Aliases | C15orf15, FLJ32658, MGC138220 |
Description
CIMAP1B encodes a protein that associates with microtubules and is involved in ciliary assembly and function. It is part of the CIMAP family, which includes CIMAP1A and CIMAP1C, and is characterized by a microtubule-binding domain. The protein is localized to cilia and centrosomes, playing a role in ciliogenesis and intracellular transport. CIMAP1B is expressed in various tissues, with notable levels in the brain and testis. Mutations or dysregulation may contribute to ciliopathies and cancer, though functional studies are ongoing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ciliopathies (e.g., primary ciliary dyskinesia) | Disruption of ciliary function due to altered CIMAP1B expression or mutations | Inferred from functional studies; limited direct clinical evidence |
| Cancer (potential) | Dysregulation of microtubule dynamics and ciliary signaling may promote tumorigenesis | Expression changes observed in some cancer types; not yet validated |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 5.1 | Low |
| Kidney | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical carcinoma; moderate expression |
| A549 | 7.8 | Lung carcinoma; low expression |
| HepG2 | 3.2 | Liver carcinoma; low expression |
| K562 | 1.5 | Leukemia; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567delC (p.Leu190fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein are expected to impair microtubule binding and ciliary function.
Gain of Function (GOF)
No evidence for gain-of-function mutations; overexpression may disrupt microtubule dynamics.
Dominant Negative (DN)
Potential if mutant protein interferes with normal CIMAP1B or other CIMAP family members.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • cilium assembly (GO:0060271) |
| • centrosome (GO:0005813) | • cytoplasm (GO:0005737) |
Pathways
• Cilium assembly and function
• Microtubule cytoskeleton organization
Protein Summary
CIMAP1B is a 110 kDa protein with a coiled-coil domain and a microtubule-binding region. It localizes to the ciliary axoneme and basal body, where it stabilizes microtubules and facilitates intraflagellar transport. The protein interacts with other ciliary proteins, such as IFT88, and is essential for primary cilia formation. Post-translational modifications, including phosphorylation, may regulate its function. Structural studies suggest a role in linking microtubules to the ciliary membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMAP1B Knockout HEK293 Cell Line | EDJ-KQ14551 | Human | 440836 | Details Get a Quote |
| CIMAP1B Knockout A-549 Cell Line | EDJ-KQ44840 | Human | 440836 | Details Get a Quote |
| CIMAP1B Knockout HCT 116 Cell Line | EDJ-KQ44841 | Human | 440836 | Details Get a Quote |
| CIMAP1B Knockout HeLa Cell Line | EDJ-KQ44842 | Human | 440836 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
