NIPBL

NIPBL cohesin loading factor

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000164190
UniProt:
Q6KC79
OMIM:
608667
Synonyms:
DKFZP434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, IDN3, SCC2

Ciliogenesis screen results (6 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.61) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.08) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=402, lfc=0.04) PMID:30270045
  • Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-3.34) PMID:20393562

Ciliopathy associations

  • Cornelia de Lange Syndrome

References: PMID:15146185, PMID:15146186, PMID:15146185, PMID:15318302, PMID:16799922

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Transcription regulation

Function

Mutations in the NIPBL gene cause Cornelia de Lange Syndrome (PMID: 15146185, PMID:15146186).