NIPBL Cohesin Loading Factor Peptide 1

CPTC-NIPBL-1

NIPBL Cohesin Loading Factor Peptide 1

IgG

Rabbit Monoclonal Antibody

07/03/2024

Peptide

00422

NIPBL Cohesin Loading Factor Peptide 1

CPTC-NIPBL Peptide 1

NIPBL Cohesin Loading Factor; IDN3; Nipped-B-Like Protein; SCC2 Homolog; Delangin; Scc2; Sister Chromatid Cohesion 2 Homolog (Yeast); Sister Chromatid Cohesion 2 Homolog; Nipped-B Homolog (Drosophila); NIPBL, Cohesin Loading Factor; Nipped-B Homolog; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; IDN3-B; CDLS1; NIPBL; CDLS; SCC2

This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene.NIPBL (NIPBL Cohesin Loading Factor) is a Protein Coding gene. Diseases associated with NIPBL include Cornelia De Lange Syndrome 1 and Cornelia De Lange Syndrome. Among its related pathways are Mitotic Telophase/Cytokinesis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding and protein C-terminus binding.Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).

5p13.2

NP_597677.2

Q6KC79

N/A

Synthetic Peptide

N/A

1100

09/20/2020