ODAD1: Outer Dynein Arm Docking Complex Subunit 1
A key gene in ciliary structure and function, associated with primary ciliary dyskinesia
Gene Information Card
| Symbol | ODAD1 |
|---|---|
| Full Name | Outer Dynein Arm Docking Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q96M63 |
| OMIM ID | 615956 |
| HGNC ID | 25988 |
| Aliases | CCDC114, CILD20, FLJ10305 |
Description
ODAD1 (Outer Dynein Arm Docking Complex Subunit 1) is a protein-coding gene located on chromosome 19q13.33. It encodes a component of the outer dynein arm docking complex, which is essential for the proper attachment of outer dynein arms to ciliary microtubules. This process is critical for ciliary motility. Mutations in ODAD1 are associated with primary ciliary dyskinesia type 20 (CILD20), a disorder characterized by chronic respiratory tract infections, infertility, and situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 20 (CILD20) | Loss-of-function mutations in ODAD1 disrupt the docking of outer dynein arms to ciliary microtubules, impairing ciliary motility. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 7.1 | Low |
| Fallopian Tube | 6.9 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 6.2 | Low expression |
| HEK 293 (Embryonic kidney) | 2.1 | Very low expression |
| HepG2 (Liver) | 0.8 | 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; premature stop codon |
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1195C>T (p.Arg399*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; impaired outer dynein arm docking and ciliary motility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility
• Outer dynein arm assembly
Protein Summary
The ODAD1 protein (UniProt Q96M63) is a 597-amino acid component of the outer dynein arm docking complex. It localizes to the ciliary axoneme and facilitates the attachment of outer dynein arms to microtubules, which is essential for generating ciliary beat frequency and waveform. Defects in this protein lead to impaired mucociliary clearance and primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ODAD1 Knockout HEK293 Cell Line | EDJ-KQ14545 | Human | 93233 | Details Get a Quote |
| ODAD1 Knockout HeLa Cell Line | EDJ-KQ57859 | Human | 93233 | Details Get a Quote |
| ODAD1 Knockout A-549 Cell Line | EDJ-KQ66355 | Human | 93233 | Details Get a Quote |
| ODAD1 Knockout HCT 116 Cell Line | EDJ-KQ74778 | Human | 93233 | Details Get a Quote |
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