Recombinant Human NIPBL Protein, GST-tagged

• Cat.No.: NIPBL-5872H
• Product Overview: Human NIPBL full-length ORF ( AAH33847.1, 1 a.a. - 175 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: 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
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 45.9 kDa
• AA Sequence: MKCLPENSAPLIEFANVSQGILLLL MLKQHLKNLCGFSDSKIQKYSPSES AKVYDKAINRKTGVHFHPKQTLDFL RSDMANSKITEEVKRSIVKQYLDFK LLMEHLDPDEEEEEGEVSASTNARN KAITSLLGGGSPKNNTAAETEDDES DGEDRGGGTSGVRRRRSQRISQRIT
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: NIPBL Nipped-B homolog (Drosophila) [ Homo sapiens ]
• Official Symbol: NIPBL
• Synonyms: NIPBL; Nipped-B homolog (Drosophila); nipped-B-like protein; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; IDN3; Scc2; sister chromatid cohesion 2 homolog (yeast); delangin; SCC2 homolog; sister chromatid cohesion 2 homolog; CDLS; CDLS1; IDN3-B; FLJ44854
• Gene ID: 25836
• mRNA Refseq: NM_015384
• Protein Refseq: NP_056199
• MIM: 608667
• UniProt ID: Q6KC79

Reviews

10/20/2022

Short half-life and high clearance of NIPBL allow them to penetrate the tissue and reach the lesion site, improving the therapeutic effect.

10/26/2019

Due to purity and bioactivity of the NIPBL's production process make it a valuable research tool.

06/18/2019

The biological activity is high and the experimental effect is very good.

Q&As

How do NIPBL protein mutations affect gene expression regulation?

NIPBL mutations may cause chromosomal structural abnormalities and gene expression regulation defects, thereby affecting the expression patterns of multiple genes, resulting in the onset of CdLS patients.

How do mutations in NIPBL affect cell function?

Mutations in the NIPBL protein may lead to abnormalities in gene expression regulation and chromosomal structure, which in turn affect embryonic development and cell function, resulting in the occurrence of CdLS.

Is NIPBL protein involved in other diseases or pathological processes?

Current studies have found limited associations between NIPBL protein and other diseases or pathological processes, mainly related to CdLS.

Does NIPBL have an effect on the development of specific organs or systems?

Abnormalities in the NIPBL protein may affect the development of multiple systems, including facial features, intellectual development, cardiovascular system, etc.

What function does NIPBL protein play in the human body?

NIPBL protein plays an important role in the regulation of chromosome topology and gene expression. It is involved in the formation of DNA ligation and mimicry structures, as well as the regulation of chromosome accessibility and gene transcription.

What is the relationship between NIPBL protein mutations and the clinical phenotype of CdLS?

Different types of NIPBL protein mutations may result in different clinical phenotypes of CdLS and are correlated with the severity of the patient's clinical presentation.