TBCCD1
TBCC Domain Containing 1
Gene Information Card
| Symbol | TBCCD1 |
|---|---|
| Full Name | TBCC Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 55121 ncbi.nlm.nih.gov/gene/55121 |
| Ensembl ID | ENSG00000113810 |
| UniProt ID | Q9NVR7 |
| OMIM ID | 617865 |
| HGNC ID | 24261 |
| Aliases | FLJ10842, MGC131738 |
Description
TBCCD1 (TBCC Domain Containing 1) is a protein-coding gene located on chromosome 3q27.1. The encoded protein contains a TBCC (tubulin-binding cofactor C) domain and is involved in centrosome and cilia function. It plays a role in cell cycle progression and ciliary assembly. Mutations in TBCCD1 have been 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 motility | ClinVar |
| Ciliopathy-related disorders | Disruption of centrosome and cilia function | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| A549 | 7.5 | Low expression |
| K562 | 4.1 | 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 |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of ciliary function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • cilium assembly |
| • microtubule binding | • protein binding |
| • cytoplasm |
Pathways
• Cilium assembly
• Centrosome cycle
Protein Summary
The TBCCD1 protein is a 441-amino acid protein containing a TBCC domain. It localizes to the centrosome and is essential for ciliary assembly and function. It interacts with tubulin and other centrosomal proteins to regulate microtubule dynamics and cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBCCD1 Knockout HEK293 Cell Line | EDJ-KQ15653 | Human | 55171 | Details Get a Quote |
| TBCCD1 Knockout A-549 Cell Line | EDJ-KQ46555 | Human | 55171 | Details Get a Quote |
| TBCCD1 Knockout HCT 116 Cell Line | EDJ-KQ46556 | Human | 55171 | Details Get a Quote |
| TBCCD1 Knockout HeLa Cell Line | EDJ-KQ46557 | Human | 55171 | Details Get a Quote |
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