HECW2
Function
E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487). Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370).
Involvement in disease
Neurodevelopmental disorder with hypotonia, seizures, and absent language
NDHSAL
A neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.
Tissue Specificity
Predominantly expressed in adult brain, lung and heart.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Spindle
Alternative names
KIAA1301, NEDL2, HECW2, E3 ubiquitin-protein ligase HECW2, HECT-type E3 ubiquitin transferase HECW2, NEDD4-like E3 ubiquitin-protein ligase 2