Domain

Neuroblastoma breakpoint family (NBPF) domain (IPR010630)

Short name: NBPF_dom

Domain relationships

None.

Description

Proteins of the neuroblastoma breakpoint family (NBPF) contain a highly conserved domain of unknown function, which is known as NBPF [PMID: 16079250] or DUF1220 [PMID: 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 [PMID: 16079250, PMID: 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 [PMID: 26112965]. An association has been established between DUF1220 subtype CON1 copy number and autism severity [PMID: 25758905], and between subtype CON2 copy number and cognitive function [PMID: 25287832].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
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