CIMAP3 (Cilia and Microtubule Associated Protein 3)
A microtubule-associated protein involved in ciliary function and intracellular transport, with emerging links to ciliopathies and cancer.
Gene Information Card
| Symbol | CIMAP3 |
|---|---|
| Full Name | Cilia and Microtubule Associated Protein 3 |
| Gene Type | protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 79790 ncbi.nlm.nih.gov/gene/79790 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q5T1J5 |
| OMIM ID | 616642 |
| HGNC ID | 26133 |
| Aliases | C7orf42, bA285M17.1 |
Description
CIMAP3 (Cilia and Microtubule Associated Protein 3), formerly known as C7orf42, is a protein-coding gene located on chromosome 7q22.1. The encoded protein is associated with microtubules and is implicated in ciliary function and intracellular transport. It is part of the CIMAP family, which is characterized by the presence of a microtubule-binding domain. CIMAP3 is expressed in various tissues, with notable levels in the brain, testis, and kidney. Mutations in this gene have been linked to ciliopathies, and altered expression has been observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert Syndrome | Loss-of-function mutations in CIMAP3 disrupt primary cilia formation and function, leading to the neurodevelopmental defects characteristic of Joubert syndrome. | Mutations identified in patients; functional studies in cell models show ciliary defects. (Source: OMIM, PubMed) |
| Nephronophthisis | CIMAP3 dysfunction contributes to renal cystic disease, likely due to its role in ciliary transport and signaling in kidney epithelial cells. | Genetic association and functional studies in animal models. (Source: OMIM, PubMed) |
| Cancer | Altered CIMAP3 expression may affect cell proliferation and migration through its role in microtubule dynamics and ciliary signaling, potentially influencing tumor progression. | Expression analysis in tumor samples and cell lines. (Source: COSMIC, PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 12.8 | High |
| Kidney | 8.5 | Medium |
| Lung | 5.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line; moderate expression |
| HEK293 | 12.1 | Embryonic kidney cells; high expression |
| A549 | 6.8 | Lung carcinoma; low expression |
| MCF7 | 4.2 | Breast cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare (<0.1%) | Premature stop codon, likely loss-of-function, associated with Joubert syndrome. |
| c.567_568del (p.Glu190fs) | Frameshift | Rare (<0.1%) | Frameshift leading to truncated protein, loss-of-function, associated with nephronophthisis. |
| c.890A>G (p.Gln297Arg) | Missense | 0.5% | Amino acid substitution, potential impact on protein stability or function, uncertain clinical significance. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that lead to premature termination codons or truncated proteins are classified as loss-of-function. These mutations are strongly associated with ciliopathies like Joubert syndrome and nephronophthisis.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for CIMAP3. The current evidence points primarily to loss-of-function mechanisms in disease.
Dominant Negative (DN)
No evidence for dominant-negative effects has been documented for CIMAP3 mutations. The disease inheritance patterns are typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • protein binding |
| • cytoplasm | • cytoskeleton |
| • microtubule | • cilium |
| • axoneme | • cell projection |
Pathways
• Cilium Assembly
• Microtubule Cytoskeleton Organization
• Intraflagellar Transport
Protein Summary
The CIMAP3 protein is a 729-amino acid polypeptide that localizes to the cytoplasm and is associated with microtubules. It contains a microtubule-binding domain and is involved in the regulation of microtubule dynamics and ciliary assembly. The protein is a component of the CIMAP family and plays a role in intracellular transport, particularly within cilia. Its function is critical for the proper development and signaling of ciliated cells, which explains its association with ciliopathies when mutated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMAP3 Knockout HEK293 Cell Line | EDJ-KQ9161 | Human | 128344 | Details Get a Quote |
| CIMAP3 Knockout HCT 116 Cell Line | EDJ-KQ35709 | Human | 128344 | Details Get a Quote |
| CIMAP3 Knockout HeLa Cell Line | EDJ-KQ58230 | Human | 128344 | Details Get a Quote |
| CIMAP3 Knockout A-549 Cell Line | EDJ-KQ66718 | Human | 128344 | Details Get a Quote |
