Rabbit anti-Human, Mouse NIPBL Polyclonal Antibody | anti-NIPBL antibody

NIPBL Antibody

Cat. Num. AAA9630772

• Gene Names: NIPBL; CDLS; IDN3; Scc2; CDLS1; IDN3-B
• Reactivity: Human, Mouse
• Applications: ELISA
• Purity: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Synonyms: NIPBL; Polyclonal Antibody; NIPBL Antibody; CDLS; Colon tumor susceptibility 2; Delangin; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; FLJ44854; IDN 3; IDN 3 protein; IDN 3 protein isoform A; IDN 3 protein isoform B; IDN 3B; IDN3 B; IDN3 protein; IDN3 protein isoform A; IDN3 protein isoform B; IDN3B; Mis 4; Mis4; Nipbl; NIPBL_HUMAN; Nipped B homolog (Drosophila); Nipped B homolog; Nipped B like; Nipped B like protein; Nipped-B-like protein; Scc 2; SCC 2 homolog; Scc2; SCC2 homolog; Sister chromatid cohesion protein Mis4; anti-NIPBL antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: NIPBL Antibody detects endogenous levels of NIPBL.
• Purity/Purification: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Form/Format: Liquid. Rabbit IgG in phosphate buffered saline, pH7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
• Concentration: 1mg/ml (varies by lot)

• Applicable Applications for anti-NIPBL antibody: ELISA (EIA)(peptide)
• Application Notes: ELISA(peptide): 1:20000-1:40000
• Immunogen: A synthesized peptide derived from human NIPBL.
• Conjugation: Unconjugated
• Similarity: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain. The C-terminal region containing HEAT repeats and Pro-Xaa-Val-Xaa-Leu (PxVxL) motif are involved in the recruitment of NIPBL to sites of DNA damage. Belongs to the SCC2/Nipped-B family.
• Subunit Structure: Heterodimerizes with MAU2/SCC4 to form the cohesin loading complex. The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3 heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21 and STAG1. Interacts directly (via PxVxL motif) with CBX5. Interacts with ZNF609 (via N-terminus) (By similarity). Interacts with the multiprotein complex Integrator (By similarity). Interacts (via PxVxL motif) with CBX3.
• Tissue Specificity: Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung.
• Function: 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. 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. 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).
• Preparation and Storage: Store at -20 degree C. Stable for 12 months from date of receipt.

Product Categories/Family for anti-NIPBL antibody

Nucleus; Chromosome; Primary

NCBI and Uniprot Product Information

• NCBI GI #: 47578107
• NCBI GeneID: 25836
• NCBI Accession #: NP_056199.2
• NCBI GenBank Nucleotide #: NM_015384.4
• UniProt Accession #: Q6KC79; Q6KCD6; Q6N080; Q6ZT92; Q7Z2E6; Q8N4M5; Q9Y6Y3; Q9Y6Y4
• Molecular Weight: 122,367 Da
• NCBI Official Full Name: nipped-B-like protein isoform B
• NCBI Official Synonym Full Names: Nipped-B homolog (Drosophila)
• NCBI Official Symbol: NIPBL
• NCBI Official Synonym Symbols: CDLS; IDN3; Scc2; CDLS1; IDN3-B
• NCBI Protein Information: nipped-B-like protein
• UniProt Protein Name: Nipped-B-like protein
• Protein Family: Nipped-B-like protein
• UniProt Gene Name: NIPBL
• UniProt Synonym Gene Names: IDN3
• UniProt Entry Name: NIPBL_HUMAN

NCBI 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, Jul 2008]

Uniprot Description

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: chromatin; nucleoplasm; nucleus

Molecular Function: chromatin binding; 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; embryonic viscerocranium morphogenesis; external genitalia morphogenesis; eye morphogenesis; fat cell differentiation; forelimb morphogenesis; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; metanephros development; mitotic cell cycle; mitotic sister chromatid cohesion; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of histone deacetylation; positive regulation of multicellular organism growth; positive regulation of ossification; positive regulation of transcription from RNA polymerase II promoter; regulation of developmental growth; regulation of embryonic development; regulation of hair cycle; response to DNA damage stimulus; sensory perception of sound; stem cell maintenance

Disease: Cornelia De Lange Syndrome 1