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nipped-B-like protein (delangin, SCC2 homolog, NIPBL, IDN3)
Function:
1) structural role in chromatin
2) role in sister chromatid cohesion via cohesin complex (putative)
3) 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:
1) widely expressed, including heart, skeletal muscle, fetal & adult liver, fetal & adult kidney > thymus, placenta, peripheral leukocytes, small intestine > brain, colon, spleen, lung
2) 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
General
nuclear protein
phosphoprotein
Properties
SIZE: MW = 316 kD
entity length = 2804 aa
COMPARTMENT: cell nucleus
MOTIF: glutamine-rich region {418-462}
MOTIF: glutamine residue (SEVERAL)
PxVxL {996-1009}
HEAT repeat {1767-1805}
HEAT repeat {1843-1881}
HEAT repeat {1945-1984}
HEAT repeat {2227-2267}
HEAT repeat {2313-2351}
Ser phosphorylation site {S2658}
Ser phosphorylation site {S2672}
Database Correlations
OMIM correlations
MORBIDMAP 608667
UniProt Q6KC79
References
- UniProt :accession Q6KC79
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NIPBL