{PDOC51316}
{PS51316; ODV}
{BEGIN}
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* Olduvai (ODV) domain profile *
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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.

-Sequences known to belong to this class detected by the profile: ALL.
-Other sequence(s) detected in Swiss-Prot: NONE.
-Last update: January 2020 / Text revised.

[ 1] Vandepoele K., Van Roy N., Staes K., Speleman F., van Roy F.
     "A novel gene family NBPF: intricate structure generated by gene
     duplications during primate evolution."
     Mol. Biol. Evol. 22:2265-2274(2005).
     PubMed=16079250; DOI=10.1093/molbev/msi222
[ 2] Popesco M.C., MacLaren E.J., Hopkins J., Dumas L., Cox M.,
     Meltesen L., McGavran L., Wyckoff G.J., Sikela J.M.
     "Human lineage-specific amplification, selection, and neuronal
     expression of DUF1220 domains."
     Science 313:1304-1307(2006).
     PubMed=16946073; DOI=10.1126/science.1127980
[ 3] Sikela J.M., van Roy F.
     "Changing the name of the NBPF/DUF1220 domain to the Olduvai domain."
     F1000Res 6:2185-2185(2017).
     PubMed=29399325; DOI=10.12688/f1000research.13586.2

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