RUSC1
Description
The RUSC1 (RUN and SH3 domain containing 1) is a protein-coding gene located on chromosome 1.
RUSC1 associates with the adapter-like complex 4 (AP-4) and may play a role in vesicular trafficking of proteins at the trans-Golgi network (PubMed:30262884). It functions as a signaling adapter involved in neuronal differentiation (PubMed:15024033), regulating NGF-dependent neurite outgrowth (PubMed:15024033). Additionally, RUSC1 may participate in neuronal vesicular trafficking, particularly involving pre-synaptic membrane proteins (By similarity). It appears to be involved in signaling pathways regulated by prolonged MAPK activation (PubMed:15024033). RUSC1 can regulate the polyubiquitination of IKBKG, suggesting involvement in the regulation of the NF-kappa-B pathway (PubMed:19365808).
RUSC1 is also known as NESCA.
Associated Diseases
- breast cancer
- hemoglobin D disease
- dominant beta-thalassemia
- hemoglobin E disease
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- delta-beta-thalassemia
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin H disease
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- dehydrated hereditary stomatocytosis
- beta-thalassemia-X-linked thrombocytopenia syndrome
