TBCEL (Tubulin Folding Cofactor E Like)
Gene encoding a protein involved in tubulin folding and microtubule dynamics
Gene Information Card
| Symbol | TBCEL |
|---|---|
| Full Name | Tubulin Folding Cofactor E Like |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 219899 ncbi.nlm.nih.gov/gene/219899 |
| Ensembl ID | ENSG00000165949 |
| UniProt ID | Q8N5B7 |
| OMIM ID | 617073 |
| HGNC ID | 28367 |
| Aliases | TBCE-like, TBCEL, TBCE2, TBCEL1 |
Description
TBCEL (Tubulin Folding Cofactor E Like) is a protein-coding gene located on chromosome 11q23.3. The encoded protein is a member of the tubulin-specific chaperone family and is involved in the folding and assembly of alpha- and beta-tubulin heterodimers, which are essential for microtubule formation and function. TBCEL shares sequence similarity with TBCE (tubulin folding cofactor E) and may play a role in microtubule dynamics, cell cycle progression, and intracellular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive encephalopathy with or without leukodystrophy | Biallelic loss-of-function mutations in TBCEL disrupt tubulin folding, leading to impaired microtubule function and neurodegeneration | ClinVar, OMIM |
| Microcephaly | TBCEL mutations associated with reduced brain size due to defective neurogenesis and microtubule-dependent processes | ClinVar, OMIM |
| Intellectual disability | TBCEL variants linked to cognitive impairment via altered neuronal microtubule dynamics | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HeLa (cervical carcinoma) | 8.5 | Epithelial |
| HEK293 (embryonic kidney) | 6.2 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.1000_1001del (p.Leu334Glufs*12) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in TBCEL cause progressive encephalopathy with leukodystrophy (OMIM #617073).
Gain of Function (GOF)
No evidence of gain-of-function mutations in TBCEL.
Dominant Negative (DN)
No evidence of dominant-negative effects in TBCEL.
View complete mutation data：
Gene Ontology (GO)
| • tubulin folding (GO:0007021) | • microtubule (GO:0005874) |
| • protein polymerization (GO:0051258) | • cytoplasm (GO:0005737) |
Pathways
• Tubulin folding pathway (Reactome: R-HSA-389977)
• Microtubule dynamics (Reactome: R-HSA-190840)
Protein Summary
The TBCEL protein (UniProt Q8N5B7) is a 527-amino acid tubulin folding cofactor E-like protein. It localizes to the cytoplasm and interacts with tubulin monomers to facilitate their proper folding and incorporation into microtubules. TBCEL contains a CAP-Gly domain and a conserved TBCE-like region. Loss of TBCEL function leads to microtubule instability and is associated with neurodegenerative disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBCEL Knockout HEK293 Cell Line | EDJ-KQ8424 | Human | 219899 | Details Get a Quote |
| TBCEL Knockout A-549 Cell Line | EDJ-KQ34520 | Human | 219899 | Details Get a Quote |
| TBCEL Knockout HCT 116 Cell Line | EDJ-KQ34521 | Human | 219899 | Details Get a Quote |
| TBCEL Knockout HeLa Cell Line | EDJ-KQ34522 | Human | 219899 | Details Get a Quote |
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