NBEAL1
Description
The NBEAL1 (neurobeachin like 1) is a protein-coding gene located on chromosome 2.
NBEAL1 is a protein encoded by the NBEAL1 gene in humans, located on chromosome 2q33.2. Its diverse domains suggest involvement in various cellular processes, including vesicle trafficking, membrane dynamics, receptor signaling, pre-mRNA processing, signal transduction, and cytoskeleton assembly. The NBEAL1 mRNA spans 9058 base pairs, with a coding sequence from base pair 334 to 8418. It comprises 56 exons, resulting in a protein of 2694 amino acids. Nine isoforms are currently known in humans. NBEAL1 contains five domains: DUF4704, DUF4800, PH_BEACH, Beach, and WD40 repeats. The function of DUF4704, a domain of unknown function, is conserved within neurobeachin proteins in eukaryotes.
NBEAL1 is also known as A530083I02Rik, ALS2CR16, ALS2CR17.
