TUBB Gene Summary [Human]
This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | TUBB |
| Official Name | tubulin beta class I [Source:HGNC Symbol;Acc:HGNC:20778] |
| Ensembl ID | ENSG00000183311 |
| Bio databases IDs | |
| Aliases | tubulin beta class I |
| Synonyms | B130022C14RIK, Beta tubulin, Beta tubulin 1, CDCBM6, CSCSC1, M40, M(beta)5, M(β)5, OK/SW-cl.56, TBB5, TUBB1, TUBB5, TUBULIN beta 5, tubulin, beta 5 class I, tubulin beta class I, tubulin, beta class I, TUBULIN β 5, tubulin, β 5 class I, tubulin β class I, tubulin, β class I, β tubulin, β tubulin 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 TUBB 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
- ubiquitin protein ligase binding
- Tubulin C-terminal domain
- MHC class I protein binding
- binding protein
- structural constituent of cytoskeleton
- Tubulin/FtsZ family, GTPase domain
- protein domain specific binding
- protein binding
- Tubulin/FtsZ family, C-terminal domain
- structural molecule
Pathways
Biological processes and signaling networks where the TUBB 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
- invasive breast cancer
- metastatic invasive breast cancer
- Alzheimer disease
- infection
- schizophrenia
- asthma
- coronary disease
- cardiovascular disorder
- heart failure
- disorder of coronary artery
role in cell
- differentiation
- cell death
- growth
- survival
- assembly
- replication in
- fragmentation
- organization
- polymerization
- cell division
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
- membrane vesicles
- microtubule cytoskeleton
- cytoplasmic ribonucleoprotein granule
- azurophil granule lumen
- cytoskeleton
- Extracellular Space
- cellular membrane
- Nucleus
- centrosome
- microtubules
- midbody
- cytoplasmic bridges
- cytosol
- primary cilia
- inner nuclear membrane
- perinuclear space
- synaptosomes
- membrane rafts
- cleavage furrow
- mitotic spindle
- perikaryon
- phagosomes
- cytoskeletal fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell division
- spindle assembly
- cytoskeleton-dependent intracellular transport
- regulation of synapse organization
- odontoblast differentiation
- microtubule cytoskeleton organization
- natural killer cell mediated cytotoxicity
- mitotic cell cycle
- microtubule-based process
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- extracellular region
- nuclear envelope lumen
- microtubule
- nucleus
- intercellular bridge
- extracellular vesicular exosome
- cytoskeleton
- mitotic spindle
- cytoplasm
- membrane raft
- cell body
- cytosol
- macromolecular complex
- azurophil granule lumen
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein domain specific binding
- protein binding
- ubiquitin protein ligase binding
- metal ion binding
- GTPase activity
- structural molecule activity
- MHC class I protein binding
- structural constituent of cytoskeleton
- GTPase activating protein binding