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Neuroblastoma breakpoint family member 3 (NBPF3)

Target
NBPF3
Molecular classification
Protein-coding gene, member of the neuroblastoma breakpoint family, contains DUF1220 domain repeats
01

Overview

Neuroblastoma breakpoint family member 3 (NBPF3) is a human protein-coding gene located at chromosome 1p36.12. It encodes a 633-amino acid protein containing five DUF1220 domains—a hallmark of this family and one of the most rapidly evolving protein domain families in the human lineage. NBPF3's protein sequence is highly repetitive and enriched in acidic residues, resulting in a low isoelectric point. Multiple isoforms exist, with isoform 1 the most common[1][3][4]. The specific function of NBPF3 is still unknown, but the broader NBPF family is hypothesized to be involved in primate brain development, cognitive evolution, and possibly in oncogenic and tumor-suppressor pathways. Variations in NBPF gene dosage and expression have been linked to numerous developmental, neurogenetic, and oncological conditions[4][5]. There are no known drug interactions, known clinical mechanisms of action, or use as approved biomarkers. NBPF3 is not recognized as a classical therapeutic target, as its precise biological activity remains largely speculative based on current evidence[1][3][4][5][6][7][8].

Other names
AE2L7Protein AE2Protein SHIIIa4NBPF family member NBPF3neuroblastoma breakpoint family member 3
02

Biological functions

Function poorly understoodmay contribute to primate brain evolutionpossibly oncogenesis
03

Disease associations

Cancer (expression altered in some cancers, proposed link to oncogenesis and tumor suppression)Neurodevelopmental diseases (copy number variations in NBPF gene regions associated with microcephaly, macrocephaly, autism, schizophrenia, and cognitive disabilities)Congenital anomalies (congenital heart disease, congenital kidney and urinary tract anomalies)Diamond-Blackfan Anemia 11

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