CIMAP1A Gene - Structure, Function, and Clinical Significance
Comprehensive biomedical overview of CIMAP1A (ciliary microtubule associated protein 1A), including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | CIMAP1A |
|---|---|
| Full Name | ciliary microtubule associated protein 1A |
| Gene Type | protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 285600 ncbi.nlm.nih.gov/gene/285600 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 618070 |
| HGNC ID | 26760 |
| Aliases | FLJ46365, MGC138499 |
Description
CIMAP1A encodes a protein that associates with microtubules, particularly in cilia. It is involved in ciliary assembly and function, playing a role in cellular signaling and motility. The gene is located on chromosome 11q13.4 and is expressed in various tissues, with highest levels in the testis and respiratory epithelia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defects in ciliary function due to CIMAP1A mutations may impair mucociliary clearance. | Limited evidence; case reports in ClinVar. |
| Spermatogenic failure | CIMAP1A is highly expressed in testis; mutations may affect sperm flagella function. | Inferred from expression data; not yet confirmed in OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Lung | 12.1 | Medium |
| Brain | 8.5 | Low |
| Kidney | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Moderate expression |
| A549 | 10.2 | Low expression |
| HepG2 | 5.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | 0.001% | Predicted loss of function; may cause truncated protein. |
| c.567A>G (p.Ile189Val) | Missense | 0.005% | Unknown effect; possibly benign. |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons likely result in loss of function, impairing ciliary assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • cilium assembly |
| • axoneme |
Pathways
• Cilium assembly
• Microtubule cytoskeleton organization
Protein Summary
The CIMAP1A protein is a microtubule-associated protein localized to cilia. It contains a calmodulin-binding domain and is involved in the regulation of ciliary microtubule stability. It is essential for normal ciliary function, and its disruption may lead to ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIMAP1A Knockout HEK293 Cell Line | EDJ-KQ7431 | Human | 113746 | Details Get a Quote |
| CIMAP1A Knockout HeLa Cell Line | EDJ-KQ57910 | Human | 113746 | Details Get a Quote |
| CIMAP1A Knockout A-549 Cell Line | EDJ-KQ66401 | Human | 113746 | Details Get a Quote |
| CIMAP1A Knockout HCT 116 Cell Line | EDJ-KQ74827 | Human | 113746 | Details Get a Quote |
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