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- Table of Contents
Facts about Nipped-B-like protein.
Plays a role in cohesin loading at sites of DNA damage. Its recruitement to double-strand breaks (DSBs) sites happens in a CBX3-, RNF8- and - RNF168-dependent manner whereas its recruitement to UV irradiation-induced DNA damage sites happens in a ATM-, ATR-, RNF8- and RNF168-dependent way (PubMed:28167679).
Human | |
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Gene Name: | NIPBL |
Uniprot: | Q6KC79 |
Entrez: | 25836 |
Belongs to: |
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SCC2/Nipped-B family |
CDLS1; delangin; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; FLJ44854; IDN3-B; IDN3CDLS; Nipped-B homolog (Drosophila); nipped-B-like protein; SCC2 homolog; Scc2; sister chromatid cohesion 2 homolog
Mass (kDA):
316.051 kDA
Human | |
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Location: | 5p13.2 |
Sequence: | 5; NC_000005.10 (36876769..37066413) |
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.
Nucleus. Chromosome.
PMID: 15146185 by Tonkin E.T., et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
PMID: 15146186 by Krantz I.D., et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.