NBPF3
Description
The NBPF3 (NBPF member 3) is a protein-coding gene located on chromosome 1.
NBPF3 is a human gene belonging to the neuroblastoma breakpoint family, located on chromosome 1 at 1p36.12. It's positioned near the ALPL and RAP1GAP genes. NBPF3 encodes a protein 633 amino acids long, characterized by five DUF1220 domains, common to all neuroblastoma breakpoint family members. This protein exhibits a highly repetitive structure, likely stemming from segmental duplications on chromosome 1. The DUF1220 domains span residues 236–298, 322–385, 394–460, 469–535, and 544–610. The protein sequence is enriched in glutamic acid, aspartic acid, and glutamine, resulting in a highly acidic isoelectric point of 4.21. NBPF3 exhibits four known isoforms, with isoform 1 being the predominant form. The other isoforms have unique protein sequence variations, potentially impacting the structure, expression, or function of the gene product. These isoforms, along with Poly-Glu compositional biases and a potential coiled coil, are depicted in a schematic representation. The function of NBPF3 and other neuroblastoma breakpoint family proteins remains unclear.
NBPF3 is also known as AE2.
