ASCC3
Function
ATPase involved both in DNA repair and rescue of stalled ribosomes (PubMed:22055184, PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). 3'-5' DNA helicase involved in repair of alkylated DNA: promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184). Also involved in activation of the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). Drives the splitting of stalled ribosomes that are ubiquitinated in a ZNF598-dependent manner, as part of the ribosome quality control trigger (RQT) complex (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347).
Involvement in disease
Intellectual developmental disorder, autosomal recessive 81
MRT81
An autosomal recessive disorder characterized by variable features including mild to severe developmental delay, hypotonia, feeding difficulties, extreme fatigue, and neurobehavioral abnormalities.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the helicase family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Nucleus speckle
- Cytoplasm
- Cytosol
- Colocalizes with ALKBH3 and ASCC2 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage.
Alternative names
HELIC1, RQT2, ASCC3, Activating signal cointegrator 1 complex subunit 3, ASC-1 complex subunit p200, Trip4 complex subunit p200, ASC1p200