TUBA3C: Tubulin Alpha 3c
A member of the alpha-tubulin family, essential for microtubule cytoskeleton formation and function.
Gene Information Card
| Symbol | TUBA3C |
|---|---|
| Full Name | tubulin alpha 3c |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.11 |
| NCBI Gene ID | 7278 ncbi.nlm.nih.gov/gene/7278 |
| Ensembl ID | ENSG00000102316 |
| UniProt ID | Q13748 |
| OMIM ID | 602528 |
| HGNC ID | 12408 |
| Aliases | TUBA3, TUBA3D, bA408O5.1 |
Description
TUBA3C encodes a member of the alpha-tubulin family. Alpha-tubulins are one of the two core protein components (alpha and beta tubulin) that heterodimerize to form microtubules. Microtubules are key structural elements of the cytoskeleton, involved in cell shape, division, intracellular transport, and ciliary/flagellar motility. TUBA3C is specifically expressed in testis and brain, and its expression is altered in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TUBA3C expression may affect microtubule dynamics, influencing cell proliferation and migration. | COSMIC; literature |
| Male infertility | Defects in alpha-tubulin isoforms can impair sperm motility and flagellar structure. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain | 12.8 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| A549 | 6.2 | Lung cancer cell line |
| MCF7 | 4.8 | Breast cancer cell line |
| K562 | 3.0 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.01% | Unknown; likely benign |
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TUBA3C.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TUBA3C.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in TUBA3C.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • structural constituent of cytoskeleton |
| • microtubule-based process | • protein heterodimerization activity |
Pathways
• Microtubule cytoskeleton organization
• Cell cycle (mitotic spindle formation)
Protein Summary
TUBA3C encodes a 451-amino acid alpha-tubulin protein (UniProt Q13748) that forms heterodimers with beta-tubulin. It contains a GTP-binding domain essential for microtubule polymerization. The protein is highly expressed in testis and brain, suggesting specialized roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUBA3C Knockout HEK293 Cell Line | EDJ-KQ5980 | Human | 7278 | Details Get a Quote |
| TUBA3C Knockout HeLa Cell Line | EDJ-KQ54706 | Human | 7278 | Details Get a Quote |
| TUBA3C Knockout A-549 Cell Line | EDJ-KQ63194 | Human | 7278 | Details Get a Quote |
| TUBA3C Knockout HCT 116 Cell Line | EDJ-KQ71665 | Human | 7278 | Details Get a Quote |
