|PROSITE documentation PDOC51316 [for PROSITE entry PS51316]|
Proteins of the neuroblastoma breakpoint family (NBPF) contain a highly conserved domain of approximately 65 amino acids, which has been named the Olduvai (ODV) domain. The Olduvai domain is present in multiple copies in NBPF proteins and once, with lower homology, in mammalian myomegalin (PDE4DIP), a protein localized in the Golgi/centrosomal area which functions as an anchor to localize components of the cyclic adenosine monophosphate-dependent pathway to this region. 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 increase in humans (at least 165 additional human copies) represents the largest lineage-specific copy number increase of any coding region in the genome. The Olduvai copy number has been implicated in human brain evolution, brain size-related phenotypes, brain disorders (autism/ schizophrenia/micro- and macrocephaly), and measures of cognitive function. The Olduvai domain that is found as a singly copy in nonprimate mammals is the likely ancestral domain. The implications of the resemblance of NBPF proteins to myomegalin remain obscure as no functional properties have been ascribed to the Olduvai domains. Olduvai domains are typically built of two exons [1,2,3].
The profile we developed covers the entire Olduvai domain.Last update:
January 2020 / Text revised.
PROSITE method (with tools and information) covered by this documentation:
|1||Authors||Vandepoele K. Van Roy N. Staes K. Speleman F. van Roy F.|
|Title||A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution.|
|Source||Mol. Biol. Evol. 22:2265-2274(2005).|
|2||Authors||Popesco M.C. MacLaren E.J. Hopkins J. Dumas L. Cox M. Meltesen L. McGavran L. Wyckoff G.J. Sikela J.M.|
|Title||Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains.|
|3||Authors||Sikela J.M. van Roy F.|
|Title||Changing the name of the NBPF/DUF1220 domain to the Olduvai domain.|