DISEASES

Disease-gene associations mined from literature

Literature associating NIPBL and DOID:0050536

NIPBL [ENSP00000282516]

Nipped-B-like protein; Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin . Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double- strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168- dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner . Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). ; Belongs to the SCC2/Nipped-B family.

Synonyms:  NIPBL,  H0Y8M3,  Q6KC79,  H0Y8M3p,  hH0Y8M3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM