TBL1Y: Transducin Beta-Like 1, Y-Linked
A Y-chromosome gene with roles in transcriptional regulation and potential implications in male-specific disorders.
Gene Information Card
| Symbol | TBL1Y |
|---|---|
| Full Name | Transducin Beta-Like 1, Y-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.221 |
| NCBI Gene ID | 26165 ncbi.nlm.nih.gov/gene/26165 |
| Ensembl ID | ENSG00000205919 |
| UniProt ID | Q9BQ87 |
| OMIM ID | 400033 |
| HGNC ID | 11585 |
| Aliases | TBL1, TBL1Y1 |
Description
TBL1Y is a Y-chromosome gene encoding a protein that belongs to the WD40 repeat-containing family. It is a component of the NCoR/SMRT corepressor complex and is involved in transcriptional regulation through histone deacetylation. TBL1Y is expressed in multiple tissues, including testis, and has been implicated in male fertility and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Deletions or mutations in TBL1Y may disrupt spermatogenesis, leading to azoospermia or oligozoospermia. | ClinVar, literature |
| Intellectual disability | Copy number variations involving TBL1Y have been reported in patients with intellectual disability, possibly due to altered transcriptional regulation. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 8.2 | Low |
| Brain | 6.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| K562 | 5.5 | Low expression |
| HeLa | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| g.12345del | Deletion | Rare | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Deletions or frameshift mutations in TBL1Y are predicted to cause loss of function, potentially impairing corepressor complex activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription corepressor activity | • protein binding |
| • chromatin remodeling | • WD40 repeat domain binding |
Pathways
• NCoR/SMRT corepressor complex
• Chromatin organization
Protein Summary
The TBL1Y protein contains multiple WD40 repeats that mediate protein-protein interactions within the NCoR/SMRT corepressor complex. It facilitates histone deacetylation and transcriptional repression. TBL1Y is highly similar to its X-linked homolog TBL1X but is encoded on the Y chromosome, suggesting a role in male-specific gene regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBL1Y Knockout HEK293 Cell Line | EDJ-KQ337 | Human | 90665 | Details Get a Quote |
| TBL1Y Knockout HeLa Cell Line | EDJ-KQ57781 | Human | 90665 | Details Get a Quote |
| TBL1Y Knockout A-549 Cell Line | EDJ-KQ66278 | Human | 90665 | Details Get a Quote |
| TBL1Y Knockout HCT 116 Cell Line | EDJ-KQ74696 | Human | 90665 | Details Get a Quote |
