TBL1Y - transducin beta like 1 Y-linked Gene
Also Known as TBL1; DFNY2
Species: Homo sapiens
About TBL1Y
This gene has 4 transcripts (splice variants), 123 orthologues, 2 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.
Summary
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
TBL1Y Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_033284.2 | NP_150600.1 | F-box-like/WD repeat-containing protein TBL1Y |
| NM_134258.2 | NP_599020.1 | F-box-like/WD repeat-containing protein TBL1Y |
| NM_134259.2 | NP_599021.1 | F-box-like/WD repeat-containing protein TBL1Y |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
30341416 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
30341416 | GOA |
TBL1Y Protein Structure
LisH: LisH (6 - 32)
WD40: WD domain, G-beta repeat (173 - 207)
WD40: WD domain, G-beta repeat (236 - 262)
WD40: WD domain, G-beta repeat (269 - 304)
WD40: WD domain, G-beta repeat (351 - 387)
WD40: WD domain, G-beta repeat (393 - 438)
WD40: WD domain, G-beta repeat (442 - 480)
- 0
- 100
- 200
- 300
- 400
- 522 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
F-box-like/WD repeat-containing protein TBL1Y |
|
TBL1Y Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P85473 | TBL1Y Antibody (YA5165) | WB | Human, Mouse, Rat, Dog, Pig |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Y-Linked 2 |
|
|
| Sensorineural Hearing Loss |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | TBL1Y | VGNC | VGNC:101432 |
| Mus musculus | TBL1Y | MGD | MGI:1336172 |
| Others | TBL1Y | NCBI |