TUBA1A Gene Summary [Human]
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | TUBA1A |
| Official Name | tubulin alpha 1a [Source:HGNC Symbol;Acc:HGNC:20766] |
| Ensembl ID | ENSG00000167552 |
| Bio databases IDs | |
| Aliases | tubulin alpha 1a, tubulin, alpha, brain-specific |
| Synonyms | Alpha1 tubulin, Alpha tubulin isotype M alpha 1, B-ALPHA-1, B-α-1, LIS3, T-Alpha1 Tubulin, TBA3, TRAF interacting, Tuba-1, Tuba2, TUBA3, Tubulin, tubulin alpha 1a, tubulin, alpha 1A, TUBULIN alpha 3, tubulin α 1a, tubulin, α 1A, TUBULIN α 3, α tubulin, α tubulin isotype M α 1 |
| 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 TUBA1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GTP binding
- Tubulin protein family of FtsZ and CetZ-like
- Tubulin C-terminal domain
- binding protein
- Tubulin/FtsZ family, GTPase domain
- protein domain specific binding
- protein binding
- Tubulin/FtsZ family, C-terminal domain
- structural molecule
- identical protein binding
- protein heterodimerization
Pathways
Biological processes and signaling networks where the TUBA1A 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 cancer
- premenopausal breast cancer
- metastatic castration resistant prostate adenocarcinoma
- locally advanced breast cancer
- postmenopausal breast cancer
- metastatic prostatic adenocarcinoma
- anemia
- metastatic recurrent breast cancer
- metastatic invasive breast cancer
- invasive breast cancer
role in cell
- apoptosis
- migration
- cell death
- differentiation
- morphology
- polymerization
- organization
- mitosis
- cell movement
- motility
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
- detergent-insoluble membrane fraction
- myelin enriched fraction
- microtubule cytoskeleton
- cytoplasmic ribonucleoprotein granule
- cilia
- ribosome
- Nucleus
- Plasma Membrane
- microtubules
- axonemes
- cytosol
- chromosome
- sperm tail
- synaptic vesicles
- neuromuscular junctions
- growth cone
- myelin sheath
- synapse
- recycling endosomes
- cytoplasmic microtubule
- membrane rafts
- axons
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBA1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- locomotory exploration behavior
- centrosome cycle
- pyramidal neuron differentiation
- visual learning
- adult locomotory behavior
- forebrain morphogenesis
- intracellular protein transport
- memory
- mitotic cell cycle
- cerebellar cortex morphogenesis
- microtubule-based process
- response to mechanical stimulus
- cell division
- organelle transport along microtubule
- neuron migration
- startle response
- cytoskeleton-dependent intracellular transport
- cellular response to calcium ion
- neuron apoptotic process
- regulation of synapse organization
- synapse organization
- smoothened signaling pathway
- microtubule polymerization
- cerebral cortex development
- microtubule cytoskeleton organization
- dentate gyrus development
- homeostasis of number of cells within a tissue
- gene expression
- glial cell differentiation
- response to tumor necrosis factor
Cellular Component
Where in the cell the gene product is active
- condensed chromosome
- nucleus
- microtubule cytoskeleton
- axonemal microtubule
- extracellular vesicular exosome
- cytoplasm
- cytosol
- neuromuscular junction
- recycling endosome
- plasma membrane
- microtubule
Molecular Function
What the gene product does at the molecular level
- GTP binding
- identical protein binding
- protein binding
- protein heterodimerization activity
- metal ion binding
- structural molecule activity
- structural constituent of cytoskeleton
- hydrolase activity