UBAP2L
Function
Recruits the ubiquitination machinery to RNA polymerase II for polyubiquitination, removal and degradation, when the transcription-coupled nucleotide excision repair (TC-NER) machinery fails to resolve DNA damage (PubMed:35633597). Plays an important role in the activity of long-term repopulating hematopoietic stem cells (LT-HSCs) (By similarity). Is a regulator of stress granule assembly, required for their efficient formation (PubMed:29395067, PubMed:35977029). Required for proper brain development and neocortex lamination (By similarity).
Involvement in disease
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
NEDLBF
A disorder characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures, and distal skeletal defects of the hands and feet.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Acetylated.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Chromosome
- Cytoplasm
- Cytoplasm
- Stress granule
- Associates with nuclear chromatin.
Alternative names
KIAA0144, NICE4, UBAP2L, Ubiquitin-associated protein 2-like, Protein NICE-4, RNA polymerase II degradation factor UBAP2L