nipped-B-like protein (delangin, SCC2 homolog, NIPBL, IDN3)

Function

• structural role in chromatin
• role in sister chromatid cohesion via cohesin complex (putative)
• interacts with CBX5 via PxVxL motif

Structure

• contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif with role in interaction with chromoshadow domains
• contains 5 HEAT repeats

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

• widely expressed, including heart, skeletal muscle, fetal & adult liver, fetal & adult kidney > thymus, placenta, peripheral leukocytes, small intestine > brain, colon, spleen, lung
• in embryos, expressed in developing limbs & later in cartilage primordia of the ulna & of various hand bones, craniofacial bones, spinal column
  • expressed in the developing heart in atrial & ventricular myocardium
  • expressed in the developing esophagus, trachea and midgut loops, bronchi of the lung, tubules of metanephros

Pathology

• defects in NIPBL are the cause of Cornelia de Lange syndrome

More general terms

• nuclear protein
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/122470
• OMIM: https://mirror.omim.org/entry/608667
• UniProt: http://www.uniprot.org/uniprot/Q6KC79.html