TBPL1: TATA-Box Binding Protein Like 1
A key transcription factor involved in RNA polymerase II and III initiation, with implications in developmental disorders and cancer.
Gene Information Card
| Symbol | TBPL1 |
|---|---|
| Full Name | TATA-Box Binding Protein Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 9519 ncbi.nlm.nih.gov/gene/9519 |
| Ensembl ID | ENSG00000112237 |
| UniProt ID | P62380 |
| OMIM ID | 605521 |
| HGNC ID | 11594 |
| Aliases | TLP, TRF2, TBP-related factor 2 |
Description
TBPL1 (TATA-Box Binding Protein Like 1) encodes a transcription factor that is a member of the TBP (TATA-box binding protein) family. It is involved in the initiation of transcription by both RNA polymerase II and RNA polymerase III. TBPL1 can substitute for TBP in certain promoter contexts and is essential for normal development, particularly in the nervous system. Mutations and altered expression of TBPL1 have been linked to neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in TBPL1 impair transcription initiation, leading to developmental defects. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of TBPL1 may promote cell proliferation by altering transcription of growth-related genes. | COSMIC, PubMed |
| Breast cancer | TBPL1 upregulation associated with poor prognosis; potential role in transcriptional reprogramming. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; moderate expression |
| HEK293 | 10.8 | Embryonic kidney; moderate expression |
| K562 | 7.5 | Leukemia cell line; low expression |
| MCF7 | 18.1 | Breast cancer cell line; high expression |
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.Arg109Trp) | Missense | <0.01% | Alters DNA-binding domain; reduced transcriptional activity |
| c.487_489del (p.Lys163del) | Deletion | <0.01% | In-frame deletion; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations in the TBP-like domain reduce or abolish DNA binding and transcription initiation, leading to developmental disorders.
Gain of Function (GOF)
Overexpression in certain cancers suggests a potential gain-of-function role, but specific activating mutations are not well characterized.
Dominant Negative (DN)
Some missense variants may interfere with wild-type TBPL1 or TBP function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription initiation
• RNA polymerase III transcription initiation
• TFIID-dependent transcription
Protein Summary
TBPL1 is a 206-amino acid protein that contains a conserved TBP-like core domain responsible for binding to TATA-box DNA sequences. Unlike TBP, TBPL1 is not part of the canonical TFIID complex but can interact with other transcription factors to regulate specific subsets of genes. It is particularly important for neuronal development and has been implicated in cell cycle control. The protein is localized to the nucleus and is expressed in a tissue-specific manner, with highest levels in the brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBPL1 Knockout HEK293 Cell Line | EDJ-KQ50875 | Human | 9519 | Details Get a Quote |
| TBPL1 Knockout HeLa Cell Line | EDJ-KQ55186 | Human | 9519 | Details Get a Quote |
| TBPL1 Knockout A-549 Cell Line | EDJ-KQ63667 | Human | 9519 | Details Get a Quote |
| TBPL1 Knockout HCT 116 Cell Line | EDJ-KQ72130 | Human | 9519 | Details Get a Quote |
