NP_056199.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
122,367 Da
NCBI Official Full Name
nipped-B-like protein isoform B
NCBI Official Synonym Full Names
NIPBL, cohesin loading factor
NCBI Official Synonym Symbols
CDLS; IDN3; Scc2; CDLS1; IDN3-B [Similar Products]
NCBI Protein Information
nipped-B-like protein
UniProt Protein Name
Nipped-B-like protein
UniProt Synonym Protein Names
Delangin; SCC2 homolog
UniProt Synonym Gene Names
NCBI Summary for NIPBL
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 mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for NIPBL
NIPBL: a chromatin protein involved in sister chromatid cohesion. Interacts directly with CBX5 via the PxVxL motif, which is required for interaction with chromoshadow domains. Defects in NIPBL are the cause of Cornelia de Lange syndrome (CDL). CDL is a dominantly inherited multisystem developmental disorder. Three alternatively spliced isoforms have been reported.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 5p13.2
Cellular Component: nucleoplasm; nucleus
Molecular Function: histone deacetylase binding; protein binding; protein C-terminus binding; protein N-terminus binding
Biological Process: brain development; cognition; developmental growth; ear morphogenesis; embryonic digestive tract morphogenesis; embryonic forelimb morphogenesis; external genitalia morphogenesis; eye morphogenesis; forelimb morphogenesis; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; mitotic sister chromatid cohesion; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of histone deacetylation; regulation of developmental growth; regulation of embryonic development; regulation of hair cycle; response to DNA damage stimulus; sensory perception of sound
Disease: Cornelia De Lange Syndrome 1
Research Articles on NIPBL
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with NIPBL elisa kit
Pathways associated with NIPBL elisa kit
Diseases associated with NIPBL elisa kit
Organs/Tissues associated with NIPBL elisa kit
|