TBCE Gene Summary [Human]
Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TBCE |
| Official Name | tubulin folding cofactor E [Source:HGNC Symbol;Acc:HGNC:11582] |
| Ensembl ID | ENSG00000282984 |
| Bio databases IDs | |
| Aliases | tubulin folding cofactor E |
| Synonyms | 2610206D02Rik, C530005D02Rik, HRD, KCS, KCS1, pac2, PEAMO, pmn, tubulin folding cofactor E, tubulin-specific chaperone E |
| 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 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 human 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