CIMIP5 (Ciliary Microtubule Interacting Protein 5)
A ciliary protein with potential roles in cell signaling and cancer
Gene Information Card
| Symbol | CIMIP5 |
|---|---|
| Full Name | ciliary microtubule interacting protein 5 |
| Gene Type | protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 100132891 ncbi.nlm.nih.gov/gene/100132891 |
| Ensembl ID | ENSG00000214548 |
| UniProt ID | A6NMY6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33733 |
| Aliases | C1orf194, FLJ45850 |
Description
CIMIP5 (ciliary microtubule interacting protein 5) is a protein-coding gene located on chromosome 1q41. It is predicted to be involved in ciliary function, potentially playing a role in microtubule dynamics within cilia. The gene is expressed in various tissues, with notable expression in the brain and testis. While its exact function is not fully characterized, studies suggest it may be implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential role in tumorigenesis | COSMIC lists somatic mutations in cancer samples |
| Ciliopathies (potential) | Predicted ciliary function; mutations may disrupt cilia | Inferred from gene ontology and localization |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 5.1 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.7 | Cervical cancer cell line |
| A549 | 6.2 | Lung cancer cell line |
| MCF7 | 5.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456C>T (p.R153*) | Nonsense | Rare | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons likely result in loss of function, potentially affecting ciliary integrity.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly | • microtubule binding |
| • cytoplasm | • ciliary basal body |
Pathways
• Cilium assembly
• Microtubule cytoskeleton organization
Protein Summary
The CIMIP5 protein is predicted to contain domains involved in microtubule interaction. It is localized to ciliary structures, suggesting a role in cilia formation or function. The protein is expressed in multiple tissues, with higher levels in brain and testis, indicating potential tissue-specific functions. Further studies are needed to fully elucidate its molecular mechanisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMIP5 Knockout HEK293 Cell Line | EDJ-KQ9252 | Human | 130813 | Details Get a Quote |
| CIMIP5 Knockout HeLa Cell Line | EDJ-KQ58283 | Human | 130813 | Details Get a Quote |
| CIMIP5 Knockout A-549 Cell Line | EDJ-KQ66773 | Human | 130813 | Details Get a Quote |
| CIMIP5 Knockout HCT 116 Cell Line | EDJ-KQ75176 | Human | 130813 | Details Get a Quote |
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