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MGP004768

UniProt Annotations

Entry Information
Gene NameNipped-B homolog (Drosophila)
Protein EntryNIPBL_HUMAN
UniProt IDQ6KC79
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A, IDN3-A; IsoId=Q6KC79-1; Sequence=Displayed; Name=2; Synonyms=B, IDN3-B; IsoId=Q6KC79-2; Sequence=VSP_011092, VSP_011093; Note=Contains a phosphothreonine at position 2667. Contains a phosphoserine at position 2672.; Name=3; IsoId=Q6KC79-3; Sequence=VSP_011091; Note=No experimental confirmation available.;
Developmental StageIn 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. {ECO:0000269|PubMed:15146185}.
DiseaseCornelia 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. {ECO:0000269|PubMed:15146185, ECO:0000269|PubMed:15146186, ECO:0000269|PubMed:15318302, ECO:0000269|PubMed:20358602}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainContains 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.
FunctionProbably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex (By similarity). {ECO:0000250}.
Sequence CautionSequence=AAH33847.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA77335.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAA77349.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAC86701.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAE45790.1; Type=Frameshift; Positions=278; Evidence={ECO:0000305};
SimilarityBelongs to the SCC2/Nipped-B family. {ECO:0000305}.
SimilarityContains 5 HEAT repeats. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000250}.
SubunitInteracts directly with CBX5 via the PxVxL motif. {ECO:0000269|PubMed:15882967, ECO:0000269|PubMed:20562864}.
Tissue SpecificityWidely 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. {ECO:0000269|PubMed:15146185, ECO:0000269|PubMed:15146186}.
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