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Nipped B Like Protein (NIPBL)

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Scc2; IDN3; Sister Chromatid Cohesion 2 Homolog; Delangin

Nipped B Like Protein (NIPBL)
CCC L123
HGNC 28862
MGI 1918425
PubMed 15146186
UniProt Q6KC79
Wiki NIPBL
NIPBL encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nipped B Like Protein (NIPBL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nipped B Like Protein (NIPBL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nipped B Like Protein (NIPBL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nipped B Like Protein (NIPBL) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nipped B Like Protein (NIPBL) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nipped B Like Protein (NIPBL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nipped B Like Protein (NIPBL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nipped B Like Protein (NIPBL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nipped B Like Protein (NIPBL) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nipped B Like Protein (NIPBL) ELISA Kit Customized Service Offer
  1. "NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome."Nat. Genet. 36:636-641(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B." Nat. Genet. 36:631-635(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain."Biochem. Biophys. Res. Commun. 331:929-937(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression."Curr. Biol. 16:863-874(2006) [PubMed] [Europe PMC] [Abstract]
  9. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance."PLoS Biol. 4:E242-E242(2006) [PubMed] [Europe PMC] [Abstract]
  11. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  12. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  13. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  16. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  18. "Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation."Nat. Cell Biol. 12:719-727(2010) [PubMed] [Europe PMC] [Abstract]
  19. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  20. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  21. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  22. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  23. "NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations."Am. J. Hum. Genet. 75:610-623(2004) [PubMed] [Europe PMC] [Abstract]
  24. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  25. "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract]
  26. "Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations."Ann. Clin. Lab. Sci. 40:20-25(2010) [PubMed] [Europe PMC] [Abstract]
  27. "Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction." Eur. J. Hum. Genet. 20:271-276(2012) [PubMed] [Europe PMC] [Abstract]
  28. "Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome."J. Appl. Genet. 54:27-33(2013) [PubMed] [Europe PMC] [Abstract]
  29. "Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome."Gene 555:476-480(2015) [PubMed] [Europe PMC] [Abstract]