Proteins of the neuroblastoma breakpoint family (NBPF) contain a highly conserved domain of unknown function, which is known as NBPF, also known as Olduvai [ PUBMED:16079250 ] or DUF1220 [ PUBMED:19850849 ]. The NBPF/DUF1220 domain is present … expand

Proteins of the neuroblastoma breakpoint family (NBPF) contain a highly conserved domain of unknown function, which is known as NBPF, also known as Olduvai [ PUBMED:16079250 ] or DUF1220 [ PUBMED:19850849 ]. The NBPF/DUF1220 domain is present in multiple copies in NBPF proteins and once, with lower homology, in mammalian myomegalin, a protein localised in the Golgi/centrosomal area which functions as an anchor to localise components of the cyclic adenosine monophosphate-dependent pathway to this region. The implications of the resemblance of NBPF proteins to myomegalin remain obscure.

NBPF domains are typically built of two exons [ PUBMED:16079250 PUBMED:16946073 ]. The number of NBPF repeat copies is highly expanded in humans, reduced in African great apes, further reduced in orangutan and Old World monkeys, single-copy in nonprimate mammals, and absent in nonmammalian species. The NBPF domain that is found as a singly copy in nonprimate mammals is the likely ancestral domain. Studies suggest an association between NBPF/DUF1220 copy number and brain size, and more specifically neocortex volume [ PUBMED:26112965 ]. An association has been established between DUF1220 subtype CON1 copy number and autism severity [ PUBMED:25758905 ], and between subtype CON2 copy number and cognitive function [ PUBMED:25287832 ].