TBL1

Full Name

TBL1

Function

F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219).
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 (PubMed:21240272).

Biological Process

Biological Process histone deacetylationIBA:GO_Central1 Publication
Biological Process negative regulation of transcription by RNA polymerase IIIDA:UniProtKB1 Publication
Biological Process positive regulation of canonical Wnt signaling pathwayIMP:UniProtKB1 Publication
Biological Process positive regulation of DNA-templated transcriptionIDA:UniProtKB1 Publication
Biological Process positive regulation of transcription by RNA polymerase IIIDA:UniProtKB1 Publication
Biological Process proteasome-mediated ubiquitin-dependent protein catabolic processISS:UniProtKB
Biological Process protein stabilizationISS:UniProtKB
Biological Process proteolysisIMP:UniProtKB1 Publication
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process sensory perception of soundIMP:UniProtKB1 Publication

Cellular Location

Nucleus
Colocalized with MECP2 to the heterochromatin foci.

Involvement in disease

Hypothyroidism, congenital, non-goitrous, 8 (CHNG8):
A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients.