TBL1Y gene

transducin beta like 1 Y-linked

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (By similarity).

From NCBI Gene:

  • Deafness, Y-linked 2

From UniProt:

Deafness, Y-linked 2 (DFNY2): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNY2 patients show bilateral symmetric hearing loss ranging from mild to severe, with onset in the third to fifth decades of life. [MIM:400047]

Cytogenetic Location: Yp11.2, which is the short (p) arm of the Y chromosome at position 11.2

Molecular Location: base pairs 6,908,594 to 7,107,154 on the Y chromosome (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: Yp11.2, which is the short (p) arm of the Y chromosome at position 11.2
  • DFNY2
  • TBL1