RUSC1

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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