CIMIP6 (ciliary microtubule inner protein 6)
A ciliary protein implicated in primary ciliary dyskinesia and cancer
Gene Information Card
| Symbol | CIMIP6 |
|---|---|
| Full Name | ciliary microtubule inner protein 6 |
| Gene Type | protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 387914 ncbi.nlm.nih.gov/gene/387914 |
| Ensembl ID | ENSG00000162572 |
| UniProt ID | Q5T0F9 |
| OMIM ID | 618473 |
| HGNC ID | 25139 |
| Aliases | C1orf114, FLJ32658 |
Description
CIMIP6 (ciliary microtubule inner protein 6) is a protein-coding gene located on chromosome 1q32.1. It encodes a component of the ciliary microtubule inner protein complex, which is essential for the structural integrity and function of cilia. CIMIP6 is expressed in various tissues, with notable expression in the respiratory tract and testis. Mutations in CIMIP6 have been associated with primary ciliary dyskinesia (PCD), a disorder characterized by impaired mucociliary clearance. Additionally, altered expression of CIMIP6 has been observed in certain cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations in CIMIP6 disrupt ciliary microtubule structure, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Cancer (various types) | Differential expression of CIMIP6 in tumor tissues may contribute to cancer progression, though the exact mechanism is under investigation. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Brain | 5.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung carcinoma) | 15.0 | High expression |
| HeLa (Cervical carcinoma) | 8.5 | Moderate expression |
| MCF7 (Breast carcinoma) | 3.2 | 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 | Premature stop codon leading to loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Frameshift causing truncated protein |
| c.890A>G (p.Gln297Arg) | Missense | Low frequency | Potential impact on protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that result in premature termination codons or truncated proteins are classified as loss-of-function, leading to ciliary dysfunction.
Gain of Function (GOF)
No evidence of gain-of-function mutations for CIMIP6 has been reported.
Dominant Negative (DN)
No evidence of dominant-negative mutations for CIMIP6 has been reported.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • microtubule cytoskeleton organization |
| • ciliary basal body | • axoneme |
Pathways
• Cilium assembly
• Microtubule-based movement
Protein Summary
CIMIP6 is a protein of approximately 60 kDa that localizes to the inner microtubules of ciliary axonemes. It is involved in the stabilization and organization of microtubule doublets, contributing to ciliary motility and sensory functions. The protein contains coiled-coil domains that mediate protein-protein interactions within the ciliary complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMIP6 Knockout HEK293 Cell Line | EDJ-KQ8451 | Human | 129852 | Details Get a Quote |
| CIMIP6 Knockout HeLa Cell Line | EDJ-KQ58268 | Human | 129852 | Details Get a Quote |
| CIMIP6 Knockout A-549 Cell Line | EDJ-KQ66756 | Human | 129852 | Details Get a Quote |
| CIMIP6 Knockout HCT 116 Cell Line | EDJ-KQ75163 | Human | 129852 | Details Get a Quote |
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