NIPBL

NIPBL
Identifiers
Aliases	NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2, cohesin loading factor
External IDs	OMIM: 608667 MGI: 1913976 HomoloGene: 15850 GeneCards: NIPBL
Genetically Related Diseases
obesity[1]
Gene ontology Molecular function • mediator complex binding • chromo shadow domain binding • protein N-terminus binding • histone deacetylase binding • chromatin binding • protein C-terminus binding • protein binding Cellular component • SMC loading complex • nucleoplasm • chromatin • extracellular exosome • nucleus Biological process • positive regulation of histone deacetylation • forelimb morphogenesis • eye morphogenesis • regulation of embryonic development • cognition • uterus morphogenesis • cellular response to X-ray • regulation of developmental growth • heart morphogenesis • outflow tract morphogenesis • positive regulation of ossification • negative regulation of transcription from RNA polymerase II promoter • sensory perception of sound • cellular response to DNA damage stimulus • stem cell population maintenance • ear morphogenesis • cellular protein localization • heart development • brain development • developmental growth • mitotic sister chromatid cohesion • external genitalia morphogenesis • regulation of hair cycle • positive regulation of multicellular organism growth • embryonic digestive tract morphogenesis • gall bladder development • regulation of gene expression • embryonic cranial skeleton morphogenesis • embryonic viscerocranium morphogenesis • cell cycle • metanephros development • negative regulation of transcription, DNA-templated • fat cell differentiation • maintenance of mitotic sister chromatid cohesion • embryonic forelimb morphogenesis • face morphogenesis • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	25836	71175
Ensembl	ENSG00000164190	ENSMUSG00000022141
UniProt	Q6KC79	Q6KCD5
RefSeq (mRNA)	NM_015384 NM_133433	NM_027707 NM_201232
RefSeq (protein)	NP_056199.2 NP_597677.2	NP_081983.2 NP_957684.1
Location (UCSC)	Chr 5: 36.88 – 37.07 Mb	Chr 15: 8.29 – 8.44 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Nipped-B-like protein (NIPBL), also known as delangin or SCC2 homolog is a protein that in humans is encoded by the NIPBL gene.^[4]

Function

This gene 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 domain. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats.^[4]

Clinical significance

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.^[4]

References

1. "Diseases that are genetically associated with NIPBL view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. "Entrez Gene: Nipped-B homolog (Drosophila)".

Further reading

• Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, et al. (2007). "Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.". Hum. Mol. Genet. 16 (12): 1478–87. doi:10.1093/hmg/ddm098. PMID 17468178.
• Schoumans J, Wincent J, Barbaro M, et al. (2007). "Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.". Eur. J. Hum. Genet. 15 (2): 143–9. doi:10.1038/sj.ejhg.5201737. PMID 17106445.
• Bhuiyan ZA, Stewart H, Redeker EJ, et al. (2007). "Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.". Eur. J. Hum. Genet. 15 (4): 505–8. doi:10.1038/sj.ejhg.5201776. PMID 17264868.
• Jugessur A, Shi M, Gjessing HK, et al. (2010). "Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.". PLoS ONE. 5 (7): e11493. doi:10.1371/journal.pone.0011493. PMC 2901336. PMID 20634891.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243.
• Park G, Gong Z, Chen J, Kim JE (2010). "Characterization of the DOT1L network: implications of diverse roles for DOT1L.". Protein J. 29 (3): 213–23. doi:10.1007/s10930-010-9242-8. PMID 20431927.
• Yan J, Zhang F, Brundage E, et al. (2009). "Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.". J. Med. Genet. 46 (9): 626–34. doi:10.1136/jmg.2008.062471. PMID 19052029.
• Selicorni A, Russo S, Gervasini C, et al. (2007). "Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.". Clin. Genet. 72 (2): 98–108. doi:10.1111/j.1399-0004.2007.00832.x. PMID 17661813.
• Barber TD, McManus K, Yuen KW, et al. (2008). "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.". Proc. Natl. Acad. Sci. U.S.A. 105 (9): 3443–8. doi:10.1073/pnas.0712384105. PMC 2265152. PMID 18299561.
• Ratajska M, Wierzba J, Pehlivan D, et al. (2010). "Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.". Eur J Med Genet. 53 (6): 378–82. doi:10.1016/j.ejmg.2010.08.002. PMID 20727427.
• Chong K, Keating S, Hurst S, et al. (2009). "Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.". Prenat. Diagn. 29 (5): 489–94. doi:10.1002/pd.2228. PMID 19242925.
• Liu J, Zhang Z, Bando M, et al. (2009). "Transcriptional dysregulation in NIPBL and cohesin mutant human cells.". PLoS Biol. 7 (5): e1000119. doi:10.1371/journal.pbio.1000119. PMC 2680332. PMID 19468298.
• Miele A, Medina R, van Wijnen AJ, et al. (2007). "The interactome of the histone gene regulatory factor HiNF-P suggests novel cell cycle related roles in transcriptional control and RNA processing.". J. Cell. Biochem. 102 (1): 136–48. doi:10.1002/jcb.21284. PMID 17577209.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
• Seitan VC, Banks P, Laval S, et al. (2006). "Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance.". PLoS Biol. 4 (8): e242. doi:10.1371/journal.pbio.0040242. PMC 1484498. PMID 16802858.
• Oliveira J, Dias C, Redeker E, et al. (2010). "Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.". Hum. Mutat. 31 (11): 1216–22. doi:10.1002/humu.21352. PMID 20824775.
• Park HD, Ki CS, Kim JW, et al. (2010). "Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.". Ann. Clin. Lab. Sci. 40 (1): 20–5. PMID 20124326.
• Jahnke P, Xu W, Wülling M, et al. (2008). "The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications.". Nucleic Acids Res. 36 (20): 6450–8. doi:10.1093/nar/gkn688. PMC 2582609. PMID 18854353.
• Pié J, Gil-Rodríguez MC, Ciero M, et al. (2010). "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. 152A (4): 924–9. doi:10.1002/ajmg.a.33348. PMC 2923429. PMID 20358602.

External links

• GeneReviews/NCBI/UW/NIH entry on Cornelia de Lange Syndrome
• NIPBL protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.