TUBB4A Gene Summary [Human]
This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
Details
| Type | Protein Coding |
| Official Symbol | TUBB4A |
| Official Name | tubulin beta 4A class IVa [Source:HGNC Symbol;Acc:HGNC:20774] |
| Ensembl ID | ENSG00000104833 |
| Bio databases IDs | |
| Aliases | tubulin beta 4A class IVa, class IVa beta-tubulin |
| Synonyms | beta-5, beta TUBULIN 4 alpha, Beta tubulin class iv, Beta-tubulin class IVa, Class IVa Beta-Tubulin, Class IVa β-Tubulin, DYT4, M(beta)4, M(β)4, Tubb, TUBB4, Tubulin beta 4, tubulin beta 4A class IVa, tubulin, beta 4A class IVA, TUBULIN beta5, TUBULIN beta (5-beta), Tubulin β 4, tubulin β 4A class IVa, tubulin, β 4A class IVA, TUBULIN β (5-β), β-5, β tubulin, β TUBULIN 4 α, β tubulin class IV, β-tubulin class IVa |
| 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 TUBB4A 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
- Tubulin/FtsZ family, GTPase domain
- calcium ion binding
- protein binding
- Tubulin/FtsZ family, C-terminal domain
Pathways
Biological processes and signaling networks where the TUBB4A 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
- infection
- hormone dependent prostate cancer
- metastatic prostate cancer
- neoplasia
- HIV infection
- inflammatory disorder
- chronic kidney disease
- disorder of coronary artery
- ischemic stroke
- acute coronary syndrome
role in cell
- expression in
- formation
- phosphorylation in
- proliferation
- formation in
- migration
- growth
- survival
- degradation in
- ubiquitination in
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
- interchromatin granule cluster fractions
- myelin enriched fraction
- microtubule cytoskeleton
- axon component
- cilia
- cellular membrane
- cell cortex
- Nucleus
- microtubules
- axonemes
- cytoplasmic bridges
- cytosol
- apical cell surfaces
- myelin sheath
- cellular protrusions
- pseudopodia
- mitotic spindle
- perikaryon
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUBB4A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- microtubule cytoskeleton organization
- mitotic cell cycle
- negative regulation of microtubule polymerization
Cellular Component
Where in the cell the gene product is active
- microtubule cytoskeleton
- myelin sheath
- neuronal cell body
- axoneme
- microtubule
- nucleus
- intercellular bridge
- extracellular vesicular exosome
- mitotic spindle
- cytoplasm
- internode region of axon
- cytosol
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- GTPase activity
- calcium ion binding
- structural constituent of cytoskeleton