Nuclear pore-associated protein 1 (NPAP1)

Nuclear pore-associated protein 1 (NPAP1) is a primate-specific, imprinted gene located in the Prader–Willi syndrome region (15q11-q13) on chromosome 15[1][2]. It is a protein-coding intronless retrogene derived from the nucleoporin POM121 but lacks a transmembrane domain[1]. NPAP1 is associated with the nuclear pore complex and is subject to tissue-specific imprinting: its expression is biallelic in adult testis and brain, but typically paternally expressed in fetal brain[2]. The precise molecular function is not well established, but it may play a brain-specific role in the nuclear pore complex and might also be involved in spermatogenesis. Disruption of NPAP1 has been associated with neurodevelopmental disorders including Prader–Willi syndrome, Angelman syndrome, and potentially autism spectrum disorder, mainly due to its location among imprinted genes critical for normal neurological development[1][2]. There are no known drugs or established mechanisms of action or biomarkers linked directly to NPAP1 as a therapeutic target, and it is not currently considered a druggable target or classic therapeutic receptor, enzyme, transporter, or channel.

Other names

C15orf2Protein C15orf2NPAP1Nuclear pore associated protein 1Nuclear pore-associated protein 1Chromosome 15 open reading frame 2