TUBA8 Gene Summary [Human]
This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | TUBA8 |
| Official Name | tubulin alpha 8 [Source:HGNC Symbol;Acc:HGNC:12410] |
| Ensembl ID | ENSG00000183785 |
| Bio databases IDs | |
| Aliases | tubulin alpha 8 |
| Synonyms | CDCBM8, LOC682022, MACTHC2, TUBAL2, tubulin alpha 8, tubulin, alpha 8, Tubulin α-8, tubulin, α 8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TUBA8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tubulin protein family of FtsZ and CetZ-like
- Tubulin C-terminal domain
- structural constituent of cytoskeleton
- Tubulin/FtsZ family, GTPase domain
- protein binding
- Tubulin/FtsZ family, C-terminal domain
Pathways
Biological processes and signaling networks where the TUBA8 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastatic breast adenocarcinoma
- premenopausal breast cancer
- cancer
- metastatic breast cancer
- postmenopausal primary breast cancer
- advanced breast cancer
- breast adenocarcinoma
- metastatic premenopausal breast adenocarcinoma
- postmenopausal breast cancer
- invasive ductal breast cancer
role in cell
- development
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microtubule cytoskeleton
- Nucleus
- microtubules
- acrosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBA8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermatid development
- microtubule cytoskeleton organization
- mitotic cell cycle
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- cytoplasm
- acrosomal vesicle
- microtubule
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- structural constituent of cytoskeleton
- hydrolase activity