Domain

Neuroblastoma breakpoint family (NBPF) domain (IPR010630)

Short name: NBPF_dom

Domain relationships

None.

Description

This entry represents a highly conserved domain of unknown function which is around 65 residues long. It is primarily found in primate neuroblastoma breakpoint family proteins (NBPF) where it occurs as a repeat. Humans display elevated copy numbers of sequences encoding this domain when compared to other primates, and dramatically elevated copy numbers when compared to mouse/rat lineages. Increased copy number variations at human chromosome location 1q21.1, where most DUF1220-encoding sequences map, have been associated with several cognitive function disorders such as autistic spectrum disorder and schizophrenia [PMID: 19850849]. This domain also occurs in myomegalin and Pde4dip proteins, as well as in other uncharacterised proteins.

Contributing signatures

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