DUF1220

Repeat of unknown function (DUF1220)
DUF1220
SMART accession number:SM01148
Description: -
Interpro abstract (IPR010630):

Proteins of the neuroblastoma breakpoint family (NBPF) contain a highly conserved domain of unknown function, which is known as NBPF [(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)].

Family alignment:
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There are 2459 DUF1220 domains in 1036 proteins in SMART's nrdb database.

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