NIPBL iso2 Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage. Its recruitement to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitement to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner. Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others. Belongs to the SCC2/Nipped-B family. 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. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 5p13.2
Cellular Component:  integrator complex; nucleoplasm; nucleus; Scc2-Scc4 cohesin loading complex; SMC loading complex
Molecular Function:  chromo shadow domain binding; histone deacetylase binding; mediator complex binding; protein binding; protein C-terminus binding; protein N-terminus binding
Biological Process:  brain development; cellular protein localization; cellular response to DNA damage stimulus; cellular response to X-ray; cognition; cohesin loading; developmental growth; ear morphogenesis; embryonic digestive tract morphogenesis; embryonic forelimb morphogenesis; external genitalia morphogenesis; eye morphogenesis; face morphogenesis; fat cell differentiation; forelimb morphogenesis; gall bladder development; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; metanephros development; mitotic sister chromatid cohesion; negative regulation of transcription by RNA polymerase II; negative regulation of transcription, DNA-templated; outflow tract morphogenesis; positive regulation of histone deacetylation; positive regulation of multicellular organism growth; positive regulation of neuron migration; positive regulation of ossification; regulation of developmental growth; regulation of embryonic development; regulation of hair cycle; sensory perception of sound; stem cell population maintenance; uterus morphogenesis
Disease: Cornelia De Lange Syndrome 1
Reference #:  Q6KC79-2 (UniProtKB)
Alt. Names/Synonyms: CDLS; CDLS1; Delangin; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; FLJ44854; IDN3; IDN3-B; NIPBL; NIPBL cohesin loading factor; NIPBL iso2; Nipped-B homolog; Nipped-B homolog (Drosophila); Nipped-B-like protein; Scc2; SCC2 homolog; sister chromatid cohesion 2 homolog
Gene Symbols: NIPBL
Molecular weight: 304,344 Da
Basal Isoelectric point: 7.91  Predict pI for various phosphorylation states
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NIPBL iso2

Protein Structure Not Found.

Cross-references to other databases:  cBioPortal  |  Wikipedia  |  Pfam  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein