CTBP1
Function
Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation.
Involvement in disease
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
HADDTS
An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The level of phosphorylation appears to be regulated during the cell cycle. Phosphorylation by HIPK2 on Ser-422 induces proteasomal degradation.
ADP-ribosylated; when cells are exposed to brefeldin A.
Sumoylation on Lys-428 is promoted by the E3 SUMO-protein ligase CBX4.
Sequence Similarities
Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Tissue Specificity
Expressed in germinal center B-cells.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
CTBP, CTBP1, C-terminal-binding protein 1, CtBP1