ID:NIPBL_HUMAN DESCRIPTION: RecName: Full=Nipped-B-like protein; AltName: Full=Delangin; AltName: Full=SCC2 homolog; FUNCTION: Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex (By similarity). SUBUNIT: Interacts directly with CBX5 via the PxVxL motif. SUBCELLULAR LOCATION: Nucleus (By similarity). 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. 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. 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. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in NIPBL are the cause of Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]. CDLS is a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. CDLS is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation and various other malformations including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. SIMILARITY: Belongs to the SCC2/Nipped-B family. SIMILARITY: Contains 5 HEAT repeats. SEQUENCE CAUTION: Sequence=AAH33847.1; Type=Erroneous initiation; Sequence=BAA77335.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=BAA77349.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=BAC86701.1; Type=Erroneous initiation; Sequence=CAE45790.1; Type=Frameshift; Positions=278; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NIPBL";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6KC79
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
