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.
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Protein type: DNA-binding |
Chromosomal Location of human Ortholog: 5p13.2 |
Cellular Component:
chromatin; cytosol; integrator complex; intracellular membrane-bounded organelle; nucleoplasm; nucleus; Scc2-Scc4 cohesin loading complex; SMC loading complex
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Molecular Function:
chromatin binding; chromo shadow domain binding; cohesin loader activity; histone deacetylase binding; mediator complex binding; promoter-specific chromatin binding; protein binding
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Biological Process:
brain development; cellular response to X-ray; cognition; developmental growth; digestive tract development; DNA damage response; ear morphogenesis; embryonic digestive tract morphogenesis; embryonic forelimb morphogenesis; embryonic viscerocranium morphogenesis; establishment of mitotic sister chromatid cohesion; establishment of protein localization to chromatin; external genitalia morphogenesis; eye morphogenesis; face morphogenesis; fat cell differentiation; forelimb morphogenesis; gallbladder development; heart morphogenesis; maintenance of mitotic sister chromatid cohesion; metanephros development; mitotic cohesin loading; mitotic sister chromatid cohesion; mitotic sister chromatid segregation; negative regulation of DNA-templated transcription; negative regulation of transcription by RNA polymerase II; outflow tract morphogenesis; positive regulation of histone deacetylation; positive regulation of multicellular organism growth; positive regulation of neuron migration; positive regulation of ossification; positive regulation of transcription by RNA polymerase II; protein localization; regulation of developmental growth; regulation of embryonic development; regulation of hair cycle; replication-born double-strand break repair via sister chromatid exchange; sensory perception of sound; somatic stem cell population maintenance; uterus morphogenesis
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Disease: Cornelia De Lange Syndrome 1
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Reference #:
Q6KC79-2
(UniProtKB)
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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
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Gene Symbols: NIPBL
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Molecular weight:
304,344 Da
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Basal Isoelectric point:
7.91
Predict pI for various phosphorylation states
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