TUBAL3: Tubulin Alpha Like 3
A testis-specific tubulin gene with potential roles in spermatogenesis and ciliary function
Gene Information Card
| Symbol | TUBAL3 |
|---|---|
| Full Name | Tubulin Alpha Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 79861 ncbi.nlm.nih.gov/gene/79861 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | A6NHL2 |
| OMIM ID | 612258 |
| HGNC ID | 25219 |
| Aliases | MGC26594, TUBAL3, tubulin, alpha-like 3 |
Description
TUBAL3 (Tubulin Alpha Like 3) is a protein-coding gene located on chromosome 10p15.1. It encodes a member of the alpha-tubulin family, which is a major component of microtubules. TUBAL3 is predominantly expressed in the testis, suggesting a specialized role in spermatogenesis and possibly in ciliary or flagellar structures. The protein is involved in microtubule cytoskeleton organization and cell division. Mutations or altered expression may contribute to male infertility or ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Disruption of microtubule dynamics in sperm flagella; reduced TUBAL3 expression may impair spermatogenesis | Limited; inferred from expression pattern and functional studies |
| Ciliopathies | Defective ciliary microtubule assembly due to TUBAL3 dysfunction | Hypothetical; based on tubulin family homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 1.2 | Low |
| Brain | 0.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SHSY5Y (neuroblastoma) | 0.6 | Low expression |
| HeLa (cervical carcinoma) | 0.4 | Not detected |
| K562 (leukemia) | 0.2 | Not detected |
| Testis-derived cell lines | 15.0 | Moderate to high |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Unknown; predicted to affect microtubule stability |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • microtubule cytoskeleton organization | • microtubule-based process |
| • GTP binding | • structural constituent of cytoskeleton |
| • cell division |
Pathways
• Microtubule cytoskeleton
• Cell cycle
• mitotic
Protein Summary
TUBAL3 encodes a 451-amino acid alpha-tubulin-like protein (UniProt A6NHL2) that is highly similar to conventional alpha-tubulins. It contains a GTP-binding domain and is predicted to form heterodimers with beta-tubulin to assemble microtubules. The protein is testis-enriched and likely contributes to the formation of sperm flagella and other microtubule structures. Its precise cellular functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBAL3 Knockout HEK293 Cell Line | EDJ-KQ15984 | Human | 79861 | Details Get a Quote |
| TUBAL3 Knockout A-549 Cell Line | EDJ-KQ47031 | Human | 79861 | Details Get a Quote |
| TUBAL3 Knockout HeLa Cell Line | EDJ-KQ57246 | Human | 79861 | Details Get a Quote |
| TUBAL3 Knockout HCT 116 Cell Line | EDJ-KQ74177 | Human | 79861 | Details Get a Quote |
