NIPBL Proteine (NIPBL)

Bezeichnung:
Nipped-B Homolog (Drosophila) Proteine (NIPBL)
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Synonyme:
4921518A06Rik, 4933421G18Rik, C79399, CDLS, CDLS1, Idn3, IDN3-B, NIPBL, nipbla, Scc2, scc2-2, SCC2W, wu:fi33d08
alle Proteine anzeigen Gen GeneID UniProt
NIPBL 25836 Q6KC79
Maus NIPBL NIPBL 71175 Q6KCD5
Ratte NIPBL NIPBL 294787  

Weitere Synonyme anzeigen

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Weitere Proteine zu NIPBL Interaktionspartnern

Zebrafish Nipped-B Homolog (Drosophila) (NIPBL) Interaktionspartner

  1. Nipbl and mediator cooperatively regulate gene expression to control limb development.

  2. The present s (zeige WNT2 Proteine)tudy focuses on th (zeige CCND1 Proteine)e role of the zebrafish nipblb paralog during neural development.

  3. Nipbl-deficient embryos showed changes in the expression of genes involved in the specification of endoderm, which gives rise to gut (zeige GUSB Proteine) and provides a substrate for cardiac precursor migration, as well as genes that regulate left-right asymmetry

Human Nipped-B Homolog (Drosophila) (NIPBL) Interaktionspartner

  1. NIPBL has evolved a sophisticated response to damaged DNA that is influenced by the form of damage, suggesting a highly dynamic role for NIPBL in maintaining genomic stability.

  2. Study identifies four likely Tourette disorder risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1 (zeige WWC1 Proteine)), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3 (zeige CELSR3 Proteine)), NIPBL (Nipped (zeige RPL38 Proteine)-B-like), and FN1 (fibronectin 1 (zeige FN1 Proteine)).

  3. 37 novel nipped-B-like protein (NIPBL) mutations were identified in Cornelia de Lange syndrome patients, including 34 in leukocytes and 3 in buccal cells only.

  4. Pathological variant specific of the isoform A of NIPBL was identified in two patients with Cornelia de Lange Syndrome.

  5. Subsequent quantitative PCR analysis demonstrated a 30% decrease of the total NIPBL mRNA levels associated with the frameshift transcript

  6. NIPBL gene mutation is associated with Thrombocytopenia in Cornelia de Lange syndrome.

  7. This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 (zeige HDAC8 Proteine) mutations and PKR (zeige PKLR Proteine) activation.

  8. NIPBL expression conferred poor prognosis and resistance to chemotherapy in non-small cell lung cancer

  9. Scc2 normally promotes a gene expression program that supports translational fidelity. . translational dysfunction may contribute to the human disorder Cornelia de Lange syndrome, which is caused by mutations in NIPBL, the human ortholog of SCC2.

  10. There was an increased frequncy of NIPBL mutations in a cohort of prenatal ultrasound detected phenotypes of Cornelia de Lange syndrome.

Mouse (Murine) Nipped-B Homolog (Drosophila) (NIPBL) Interaktionspartner

  1. Depletion of Zfp609 or Nipbl from cortical neural progenitors in vivo is detrimental to neuronal migration. Zfp609 and Nipbl overlap at genomic binding sites independently of cohesin and regulate genes that control cortical neuron migration.

  2. Nipbl transgenic mice display large atrial septal defects.

  3. This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 (zeige HDAC8 Proteine) mutations and PKR (zeige EIF2AK2 Proteine) activation.

  4. expression analysis of Smc1a (zeige SMC1A Proteine) and Nipbl in developing mouse embryos reveals a specific pattern in the hindbrain

  5. Nipbl and mediator cooperatively regulate gene expression to control limb development.

  6. Nipbl+/- mutants are growth-retarded and exhibit various skeletal and craniofacial malformations.

  7. In spermatocytes, Nipbl/Mau2 (zeige KIAA0892 Proteine) then relocalises to chromocenters, whereas in oocytes it remains bound to chromosomal axes throughout prophase to dictyate arrest.

  8. Reduction of Nipbl is associated with Cornelia de Lange Syndrome.

  9. Mice heterozygous for a gene-trap mutation in Nipbl were produced and exhibited defects characteristic of Cornelia de Lange Syndrome.

NIPBL Protein Überblick

Protein Überblick

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. 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. Two transcript variants encoding different isoforms have been found for this gene.

Alternative names and synonyms associated with NIPBL

  • Nipped-B homolog (NIPBL)
  • Nipped-B homolog (nipbl-b)
  • nipped-B homolog (NIPBL)
  • Nipped-B homolog (Drosophila) (NIPBL)
  • nipped-b homolog b (Drosophila) (nipblb)
  • Nipped-B homolog (Drosophila) (nipbl)
  • Nipped-B homolog (Drosophila) (Nipbl)
  • 4921518A06Rik Protein
  • 4933421G18Rik Protein
  • C79399 Protein
  • CDLS Protein
  • CDLS1 Protein
  • Idn3 Protein
  • IDN3-B Protein
  • NIPBL Protein
  • nipbla Protein
  • Scc2 Protein
  • scc2-2 Protein
  • SCC2W Protein
  • wu:fi33d08 Protein

Bezeichner auf Proteinebene für NIPBL

Nipped-B homolog , Scc2-2A , Scc2-2B , delangin , sister chromatid cohesion establishment factor 2 , nipped-B homolog , Nipped-B homolog (Drosophila) , nipped-B like a , nipped-B-like protein B , nipped-B-like protein-like , SCC2 homolog , nipped-B-like protein , sister chromatid cohesion 2 homolog , delangin homolog

GENE ID SPEZIES
427025 Gallus gallus
450215 Xenopus laevis
771363 Gallus gallus
427439 Gallus gallus
461917 Pan troglodytes
701209 Macaca mulatta
794108 Danio rerio
100014459 Monodelphis domestica
100053547 Equus caballus
100077677 Ornithorhynchus anatinus
100164947 Acyrthosiphon pisum
100403994 Callithrix jacchus
100479499 Ailuropoda melanoleuca
100561843 Anolis carolinensis
100603589 Nomascus leucogenys
100624231 Sus scrofa
25836 Homo sapiens
100172233 Pongo abelii
489226 Canis lupus familiaris
539566 Bos taurus
71175 Mus musculus
294787 Rattus norvegicus
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