TBP Gene - TATA-Box Binding Protein
Core component of the transcription initiation complex
Gene Information Card
| Symbol | TBP |
|---|---|
| Full Name | TATA-box binding protein |
| Gene Type | Protein coding |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 6908 ncbi.nlm.nih.gov/gene/6908 |
| Ensembl ID | ENSG00000112592 |
| UniProt ID | P20226 |
| OMIM ID | 600075 |
| HGNC ID | 11587 |
| Aliases | GTF2D1, TFIID, SCA17, TATA-binding protein |
Description
The TBP gene encodes the TATA-box binding protein, a general transcription factor that binds specifically to the TATA box promoter element. TBP is a core component of the TFIID complex and is essential for initiating transcription by RNA polymerase II. It also participates in transcription by RNA polymerases I and III. Mutations in TBP cause spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder characterized by polyglutamine expansion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia type 17 (SCA17) | Expansion of a CAG/CAA repeat in the coding region leads to an extended polyglutamine tract, causing protein aggregation and neuronal dysfunction. | OMIM #607136; ClinVar |
| Huntington disease-like phenotype | Expanded TBP repeats can mimic Huntington disease, with chorea and cognitive decline. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Heart | 8.5 | Low |
| Liver | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.3 | High expression |
| HeLa | 14.7 | Medium expression |
| K562 | 11.2 | Medium expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CAG/CAA repeat expansion (≥41 repeats) | Repeat expansion | Rare | Polyglutamine tract elongation; protein aggregation and neurotoxicity |
| c.98C>T (p.Pro33Leu) | Missense | Unknown | Potential loss of DNA binding affinity |
Mutation functional classification
Loss of Function (LOF)
Rare missense mutations may impair TBP-DNA binding or TFIID complex assembly.
Gain of Function (GOF)
Polyglutamine expansions confer toxic gain-of-function via aggregation and sequestration of other proteins.
Dominant Negative (DN)
Expanded TBP can interfere with wild-type TBP function in transcription initiation.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • RNA polymerase II transcription factor activity (GO:0003702) |
| • TFIID complex (GO:0005669) | • DNA-templated transcription initiation (GO:0006352) |
| • regulation of transcription (GO:0006355) |
Pathways
• Transcription initiation by RNA polymerase II (Reactome R-HSA-75955)
• TFIID assembly (Reactome R-HSA-109581)
Protein Summary
The TATA-box binding protein (TBP) is a 339-amino acid protein with a conserved C-terminal core domain that binds the TATA box. It adopts a saddle-shaped structure that wraps around DNA. TBP is essential for the assembly of the pre-initiation complex and is a target for regulation by various transcription factors. Polyglutamine expansions in the N-terminal domain cause SCA17.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTBP2 Knockout HEK293 Cell Line | EDJ-KQ289 | Human | 1488 | Details Get a Quote |
| LTBP1 Knockout HEK293 Cell Line | EDJ-KQ389 | Human | 4052 | Details Get a Quote |
| PTBP1 Knockout HEK293 Cell Line | EDJ-KQ2050 | Human | 5725 | Details Get a Quote |
| LTBP3 Knockout HEK293 Cell Line | EDJ-KQ2270 | Human | 4054 | Details Get a Quote |
| CTBP1 Knockout HEK293 Cell Line | EDJ-KQ4381 | Human | 1487 | Details Get a Quote |
| LTBP2 Knockout HEK293 Cell Line | EDJ-KQ5149 | Human | 4053 | Details Get a Quote |
| LTBP4 Knockout HEK293 Cell Line | EDJ-KQ6235 | Human | 8425 | Details Get a Quote |
| PTBP3 Knockout HEK293 Cell Line | EDJ-KQ6854 | Human | 9991 | Details Get a Quote |
| SETBP1 Knockout HEK293 Cell Line | EDJ-KQ8369 | Human | 26040 | Details Get a Quote |
| PTBP2 Knockout HEK293 Cell Line | EDJ-KQ12194 | Human | 58155 | Details Get a Quote |
| TBPL2 Knockout HEK293 Cell Line | EDJ-KQ15654 | Human | 387332 | Details Get a Quote |
| LTBP1 Knockout HCT 116 Cell Line | EDJ-KQ17982 | Human | 4052 | Details Get a Quote |
| PTBP1 Knockout HCT 116 Cell Line | EDJ-KQ22106 | Human | 5725 | Details Get a Quote |
| PTBP1 Knockout HeLa Cell Line | EDJ-KQ22107 | Human | 5725 | Details Get a Quote |
| LTBP2 Knockout A-549 Cell Line | EDJ-KQ28120 | Human | 4053 | Details Get a Quote |
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