CIMIP1
Ciliary Microtubule Inner Protein 1
Gene Information Card
| Symbol | CIMIP1 |
|---|---|
| Full Name | Ciliary Microtubule Inner Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000203760 |
| UniProt ID | A6NNA2 |
| OMIM ID | 620052 |
| HGNC ID | HGNC:37252 |
| Aliases | C1orf87, FLJ46365 |
Description
CIMIP1 encodes a protein localized to the inner lumen of ciliary microtubules, essential for ciliary structure and function. It is involved in the assembly and stability of the ciliary axoneme, particularly in motile cilia. Mutations in CIMIP1 are associated with primary ciliary dyskinesia and other ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia | Loss-of-function mutations impair ciliary microtubule inner protein assembly, leading to defective mucociliary clearance. | ClinVar, OMIM |
| Ciliopathy-related infertility | Disrupted sperm flagellar microtubule structure due to CIMIP1 deficiency. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 2.1 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.2 | Low expression |
| A549 | 6.8 | Moderate expression |
| HepG2 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function, truncated protein |
| c.487G>A (p.Gly163Arg) | Missense | Very rare | Likely damaging to microtubule binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing ciliary defects.
Gain of Function (GOF)
Not reported for CIMIP1.
Dominant Negative (DN)
Not reported for CIMIP1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005929 (GO:0005929) | • GO:0005874 (GO:0005874) |
| • GO:0035082 (GO:0035082) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Ciliary landscape (KEGG: hsa04550)
Protein Summary
CIMIP1 is a 45 kDa protein that localizes to the inner microtubule wall of cilia and flagella. It stabilizes microtubule doublets and is critical for ciliary motility. The protein contains a conserved domain of unknown function (DUF) that mediates interactions with tubulin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMIP1 Knockout HEK293 Cell Line | EDJ-KQ9191 | Human | 128602 | Details Get a Quote |
| CIMIP1 Knockout HeLa Cell Line | EDJ-KQ58243 | Human | 128602 | Details Get a Quote |
| CIMIP1 Knockout A-549 Cell Line | EDJ-KQ66731 | Human | 128602 | Details Get a Quote |
| CIMIP1 Knockout HCT 116 Cell Line | EDJ-KQ75142 | Human | 128602 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
