Tbce Gene Summary [Mouse]
This gene encodes a tubulin binding cofactor that participates in microtubule dynamics. A mouse model of progressive motor neuropathy (pmn) was discovered to harbor a single amino acid deletion in this gene. Mice that are homozygous for pmn allele exhibit progressive atrophy and premature death due to respiratory failure. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Tbce |
| Official Name | tubulin-specific chaperone E [Source:MGI Symbol;Acc:MGI:1917680] |
| Ensembl ID | ENSMUSG00000039233 |
| Bio databases IDs | |
| Aliases | tubulin-specific chaperone E |
| Synonyms | 2610206D02Rik, C530005D02Rik, HRD, KCS, KCS1, pac2, PEAMO, pmn, tubulin folding cofactor E, tubulin-specific chaperone E |
| Species | Mouse, Mus musculus |
| 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 mouse Tbce often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucine-rich repeat
- protein phosphatase 1 regulatory subunit 42
- Ubl1_cv_Nsp3_N-like
- Leucine rich repeat
- Ubiquitin homologues
- CAP-Gly domain
- protein binding
- chaperone binding
- Leucine Rich repeats (2 copies)
- CAP_GLY
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- invasive ductal breast cancer
- non-insulin-dependent diabetes mellitus
- progressive encephalopathy with amyotrophy and optic atrophy
- papillary thyroid carcinoma
- papillary thyroid cancer
- epithelial cancer
- breast cancer
- chronic obstructive pulmonary disease
- Hypoparathyroidism-retardation-dysmorphism syndrome
regulates
- tubulin
role in cell
- assembly
- loss
- organization
- quantity
- degeneration
- development
- disruption
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
- microtubules
- perikaryon
- cis Golgi cisternae
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbce gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tubulin complex assembly
- mitotic spindle organization
- post-embryonic development
- adult locomotory behavior
- post-chaperonin tubulin folding pathway
- developmental growth
- microtubule cytoskeleton organization
- muscle atrophy
- protein folding
- peripheral nervous system neuron axonogenesis
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- microtubule
Molecular Function
What the gene product does at the molecular level
- protein binding
- chaperone binding
- alpha-tubulin binding