Family

SCC2/Nipped-B family (IPR033031)

Short name: SCC2/Nipped-B

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

This entry represents the Nipped-B protein and its homologues, including Mis4 from fission yeast, Scc2 from budding yeast and Nipbl from zebrafish and Nipped-B from Drosophila.

Budding yeast Scc2 is known to be part of the loader for the cohesion to be loaded onto the chromosome [PMID: 19797771]. It has also been shown to regulate gene expression independent of cohesin [PMID: 25715109].

Drosophila melanogaster Nipped-B protein is a chromatin binding protein that is involved in sister chromatid cohesion. Nipped-B and its Mau-2 partner are required for cohesin to associate with chromosomes [PMID: 19308700]. The Drosophila Nipped-B has also been shown to regulate gene expression [PMID: 17965872].

The zebrafish Nipbl has also been shown to regulate transcription. Nipbl has the ability to interact with other molecules such as histone deacetylases, HP-1gamma, and chromatin remodelling factors. It has been suggested that Nipbl is a cohesin-asociated scaffold protein that have functions other than loading cohesin [PMID: 22039349].

Mutations in the human NIPBL (Nipped-B-like) gene cause Cornelia de Lange syndrome 1 (CDLS1), a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems [PMID: 15146185].

GO terms

Biological Process

GO:0010468 regulation of gene expression

Molecular Function

GO:0003682 chromatin binding

Cellular Component

No terms assigned in this category.

Contributing signatures

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