NIPBL (aa889-902), Blocking Peptide

Goat Anti-NIPBL (aa922-935) Antibody; CDLS antibody; CDLS1 antibody; DKFZp434L1319 antibody; FLJ11203 antibody; FLJ12597 antibody; FLJ13354 antibody; FLJ13648 antibody; FLJ44854 antibody; IDN3 antibody; IDN3-B antibody; Nipped-B homolog (Drosophila) antibody; nipped-B-like antibody; Scc2 antibody; SCC2 homolog antibody; sister chromatid cohesion 2 homolog antibody; NIPBL antibody

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 5; NC_000005.9 (36876861..37065921). Location: 5p13.2

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C.

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of NIPBL blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

316,051 Da

Nipped-B homolog (Drosophila)

nipped-B-like protein; delangin; SCC2 homolog; sister chromatid cohesion 2 homolog

Nipped-B-like protein

IDN3  [Similar Products]

NIPBL_HUMAN

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]

Function: Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex

By similarity.

Subunit structure: Interacts directly with CBX5 via the PxVxL motif. Ref.7 Ref.16

Subcellular location: Nucleus

By similarity.

Tissue specificity: Widely expressed. Highly expressed in heart, skeletal muscle, fetal and ***** liver, fetal and ***** kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung. Ref.1 Ref.6

Developmental stage: In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros. Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus, heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain. Ref.1

Domain: 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.

Involvement in disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6 Ref.20 Ref.22

Sequence similarities: Belongs to the SCC2/Nipped-B family.Contains 5 HEAT repeats.

Sequence caution: The sequence AAH33847.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA77335.1 differs from that shown. Reason: Chimeric cDNA.The sequence BAA77349.1 differs from that shown. Reason: Chimeric cDNA.The sequence BAC86701.1 differs from that shown. Reason: Erroneous initiation. The sequence CAE45790.1 differs from that shown. Reason: Frameshift at position 278.

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