TBPL1 Gene Summary [Human]
This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | TBPL1 |
| Official Name | TATA-box binding protein like 1 [Source:HGNC Symbol;Acc:HGNC:11589] |
| Ensembl ID | ENSG00000028839 |
| Bio databases IDs | |
| Aliases | TATA-box binding protein like 1, TBP-like factor |
| Synonyms | 4732475G08, MGC:8389, MGC:9620, STD, STUD, TATA box binding protein-like 1, TLF, TLP, TRF2, TRP |
| 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 TBPL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- double-stranded DNA binding
- nucleic acid binding
- protein binding
- general RNA polymerase II transcription factor
- sequence-specific DNA binding
- tandem repeat
- TBP_TLF
- TRAF-C subdomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- prostate cancer
- oligozoospermia
- azoospermia
- prostatic carcinoma
role in cell
- expression in
- apoptosis
- activation in
- proliferation
- number
- fragmentation
- transcription in
- differentiation
- recruitment in
- senescence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleolar fraction
- Cytoplasm
- perinuclear region
- nucleoplasm
- nucleoli
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TBPL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acrosome assembly
- spermatid nucleus differentiation
- transcription from RNA polymerase II promoter
- transcription initiation, DNA-dependent
- dTTP biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- transcription factor TFIIA complex
- male germ cell nucleus
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter sequence-specific DNA binding
- general RNA polymerase II transcription factor activity